I got my genome sequenced
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Introduction
I got my whole genome sequenced. This is something I've wanted to do for quite a while. In this post I'll discuss the online services I used to help me understand my genome, as well as what I learned.
This post makes references to both biology and statistics. I'm an expert in neither subject, so I will undoubtedly make mistakes. If you spot a mistake, please send me an email.
I have two target audiences in mind for this post:
- People who are themselves interested in getting their genome sequenced.
- People interested in my medical future, including my friends, family, myself,
and of course health insurance companies !
The services I used
The service I used was Nebula Genomics' "30x clinical grade" whole genome sequencing. The first genome cost 500 million dollars to sequence, but Nebula offer their service for $199, plus a three month subscription of $75 total.
I chose them because they allow you to download the raw files which contain your genome. Your data is yours, and you are free to export it to third parties for further analysis. This is something I made use of; in addition to reading the report Nebula gave me, I ordered third party reports from Promethease and YFull. Nebula, Promethease, and YFull each have orthogonal strengths, and thus complement each other.
Promethease
Promethease sources its information from SNPedia, which is like Wikipedia for single-nucleotide polymorphisms (SNPs). A SNP is a mutation which changes one character in your genome from one base () to another.
The volunteers who contribute to SNPedia assign each SNP a magnitude, and a repute. The magnitude is a number from to indicating how subjectively "interesting" the contributors collectively find the SNP. Likewise, the repute is either "good", "neutral", or "bad" and tells you if it is good or bad to have the variant in question in your genome. For example, rs6025(A;A) gives you times higher risk of a disease called thrombosis. It thus has a bad repute and a high magnitude of . Likewise, rs12913832(G;G) is correlated with blue eye colour in of cases. Since this SNP has entirely cosmetic effects, it has a neutral repute.
Promethease makes its reports by finding the SNPs which are contained in your genome, and displaying the information about them contained in SNPedia. SNPs are coloured red, green, or gray depending on the repute. Furthermore, SNPs are sorted in descending order based on magnitude, such that more interesting SNPs are at the top.
You can browse my Promethease report online.
Nebula Genomics
Nebula's report consists of a list of scientific papers. They describe the paper, and tell you which genetic variants that are discussed in the paper are contained in your genome. Each paper usually finds multiple variants which correlate with the measure of interest (e.g. height, eye color, etc). Each variant has an effect size and statistical significance associated with it. Nebula adds up the effect sizes of all the variants that are contained in your genome and compares said sum to that of other Nebula users. Nebula tells you which percentile (from to ) your effect size sum falls into compared to other users.
I have recreated my Nebula Report in the div (you can scroll up and down).
STUDY SUMMARY
Identification of 255 genetic variants associated with the apolipoprotein B level in the blood and analysis of its contribution to the risk of coronary heart disease.
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STUDY DESCRIPTION
Coronary heart disease (CHD) is a condition that develops when the heart's arteries cannot supply enough oxygen to the heart muscle. Coronary heart disease is the leading cause of death in the United States. It occurs when plaque builds up in the heart's arteries and blocks the blood flow to the heart. Arterial plaque consists of multiple substances that circulate in the blood, in particular fats and cholesterol. Fats and cholesterol cannot travel around the bloodstream on their own and instead must be transported by proteins called “apolipoproteins”. In particular, LDL cholesterol, the “bad” cholesterol, relies on transport by apolipoprotein B (apoB).
STUDY SUMMARY
Identification of over 200 genetic variants associated with testosterone level.
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STUDY DESCRIPTION
Testosterone is the main male sex hormone. However, it regulates bodily functions, like muscle development and fertility, in both sexes. This study examined over 425,000 individuals of European ancestry from the UK Biobank database to identify genetic factors associated with testosterone level.
STUDY SUMMARY
Identification of 69 genetic regions associated with vitamin D level.
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STUDY DESCRIPTION
Vitamin D is known as the “sunshine vitamin” because it's produced by the skin when it’s exposed to sunlight. Vitamin D helps ensure that the body absorbs and retains the minerals calcium and phosphorus, which are important for building strong bones. In this study, researchers aimed to understand the genetic determinants of vitamin D level by conducting a genome-wide association study of ~400,000 individuals of European ancestry.
STUDY SUMMARY
Identification of genetic variants associated with anorexia nervosa are also linked to a low body-mass index.
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STUDY DESCRIPTION
Anorexia nervosa is a common eating disorder characterized by weight loss or the inability to maintain a healthy body weight. Many individuals with this condition have a distorted body image of themselves. Few genetic variants correlated with a predisposition to anorexia nervosa have been identified.
STUDY SUMMARY
This study identified several genetic variants that were associated with insomnia, including 2 that were gender-specific.
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STUDY DESCRIPTION
Insomnia is a sleep disorder that makes it difficult to fall or stay asleep. This study examined genetic variants associated with chronic sleep disturbances, which affect 25-30% of adults worldwide.
STUDY SUMMARY
The timing of menopause may be influenced by genetic variants linked to DNA repair, immune function, and mitochondrial dysfunction.
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STUDY DESCRIPTION
Menopause is the end of the reproductive function of the ovaries in women. Menopause is defined to begin 1 year after a woman’s periods have stopped. To find genetic variants that correlate with the age at which women’s menstrual cycles stop, this study examined 38,968 women of European descent.
STUDY SUMMARY
Discovery of 156 genetic variants associated with a mosaic loss of chromosome Y.
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STUDY DESCRIPTION
Our DNA is packed into 23 pairs of chromosomes including two ‘sex chromosomes’. Females have two X chromosomes, while males have one Y and one X chromosome. In males, loss of the Y chromosome in some cells of the body, particularly white blood cells, has been previously associated with multiple medical conditions including various cancers, autoimmune disease, diabetes, and cardiovascular disease.
STUDY SUMMARY
Pancreatic cancer may be influenced by variants in the LINC00673, SUGCT, and TP63 genes.
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The pancreas is an organ behind the stomach that helps with digestion and control of blood-sugar levels. To better understand the genetics that help determine pancreatic cancer risk, this study examined 21,494 individuals of European and Asian descent.
STUDY SUMMARY
Genetic variants linked to pathways that promote inflammation may play a role in the development of primary biliary cirrhosis.
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STUDY DESCRIPTION
Primary biliary cirrhosis is a chronic, autoimmune liver disease. Autoimmune diseases are characterized by the immune system mistakenly attacking the body’s own cells. For primary biliary cirrhosis, this eventually results in the destruction of your bile ducts, where bile is produced. Bile helps in processes like digestion and the elimination of toxins from the body.
STUDY SUMMARY
A study of over 1 million participants identified 82 novel genetic variants associated with chronic kidney disease.
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STUDY DESCRIPTION
Kidneys have the crucial roles of filtering blood to remove waste and maintaining electrolyte levels in the body. Damage to the kidneys can cause waste to accumulate in the body, leading to higher risks of kidney failure which contributes to heart disease and other conditions. Much of the genetic contribution to kidney diseases is not well understood.
STUDY SUMMARY
Discovery of a novel genomic region associated with autism spectrum disorder (ASD).
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STUDY DESCRIPTION
Autism spectrum disorder (ASD) is a condition that affects the brain’s development. It impacts social skills, speech, and learning. ASD is a highly heritable condition, yet previous studies have identified only a small number of genetic factors. This study found 5 regions in the genome associated with ASD by examining the genetic data of over 6,000 individuals of European, African, and East Asian ancestries.
STUDY SUMMARY
Discovery of 21 genomic regions associated with gallstone formation.
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STUDY DESCRIPTION
The gallbladder stores a fluid called bile. It releases bile into the intestines where it helps with digestion. Bile contains bile acids which are produced in the body from cholesterol. Gallstones are stones that can form in the gallbladder when there is too much cholesterol and not enough bile acids. Gallstones can cause pain in the upper right abdomen and may require surgery.
STUDY SUMMARY
Identification of novel genetic variants associated with venous thromboembolism.
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Venous thromboembolism describes a condition where blood clots form in veins and block the flow of blood. Blood clots that break off and travel to organs can result in life-threatening conditions. Though venous thromboembolism is common, the contributing genetic risk factors are poorly understood.
STUDY SUMMARY
Identification of 60 novel genetic variants associated with birth weight and correlated with later-life disease susceptibility.
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Birth weight is influenced by the genetics of the mother and fetus, as well as environmental factors during pregnancy. To better understand the role of the foetal genome, this study analyzed the genomes of almost 154,000 individuals of European, African American, Chinese, Filipino, Surinamese, Turkish, and Moroccan ancestry.
STUDY SUMMARY
Discovery of 9 genetic variants associated with Addison’s disease, a condition where the adrenal glands don’t produce enough hormones.
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STUDY DESCRIPTION
The adrenal glands are acorn-sized glands located on the top of the kidneys. They produce multiple hormones including cortisol, which helps regulate the body’s metabolism and also plays a role in the response to stress. If the adrenal glands become damaged, they may not be able to produce sufficient amounts of hormones. This can cause Addison’s disease, which has symptoms including fatigue, weakness, and low blood sugar. If left untreated, it can become life-threatening.
STUDY SUMMARY
This report is based on a study that discovered 64 genetic variants associated with bipolar disorder.
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Bipolar disorder is a mental health condition that causes sharp shifts in an individual’s mood, energy, and activity. The condition is characterized by periods of manic episodes, where the patient may feel energetic and irritable, and periods of depressive episodes, where the same person may feel down and hopeless. Like many mental health conditions, genetic factors are known to contribute to an individual’s risk of developing bipolar disorder.
STUDY SUMMARY
Discovery of a genetic variant in the OAS-1 gene associated with increased risk of severe acute respiratory syndrome (SARS) coronavirus infection.
STUDY DESCRIPTION
In 2003, severe acute respiratory syndrome (SARS) coronavirus emerged in China and spread to countries in Asia, Europe, and North America, leading to a total of ~ 8,000 cases. SARS is an infectious disease that can cause flu-like symptoms, including fever, coughing, and shortness of breath. While multiple clinical risk factors for developing SARS, such as being over the age of 60 or having diabetes, have been identified, little is known about how genetics affects the susceptibility to SARS coronavirus infection.
STUDY SUMMARY
Identification of 2 genetic variants associated with brain aging.
STUDY DESCRIPTION
Aging is associated with structural changes in the brain. This study developed an algorithm to predict age from brain images. Predicted age difference (PAD), a measure for accelerated aging, was calculated by subtracting the chronological age from the predicted age.
STUDY SUMMARY
Identification of multiple novel genetic variants that are associated with an increased risk of experiencing insomnia.
STUDY DESCRIPTION
Sleep plays a critical role in maintaining physical and mental health. Insomnia, characterized by difficulty falling asleep or staying asleep, is one of the most common sleeping disorders. Insomnia is also one of the most common mental disorders and a major risk factor for depression.
STUDY SUMMARY
This report is based on a study that discovered 9 genetic variants associated with squamous cell carcinomas in the aerodigestive tract.
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STUDY DESCRIPTION
Squamous cells can be found throughout the body where they form outer layers of the skin, the digestive system and the respiratory tract. Squamous cell carcinomas (SCCs) are a form of cancer that can occur when squamous cells begin to multiply uncontrollably. Often, SCCs form when squamous cells are damaged by exposure to UV light, smoke, or other environmental hazards. This study aimed to identify genetic variants associated with SCC of the aerodigestive tract, which includes the lungs, mouth, throat, and the food pipe.
STUDY SUMMARY
Identification of 22 new genetic variants associated with venous thromboembolism.
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STUDY DESCRIPTION
Venous thromboembolism is characterized by the formation of blood clots, typically in veins of the legs. Such blood clots can block the blood flow, resulting in painful swelling of the limbs. The blood clots can also travel to the lungs, resulting in pulmonary embolism, a dangerous condition associated with high mortality.
STUDY SUMMARY
Discovery of 3 genetic regions associated with keratoconus, an eye condition characterized by thinning of the cornea.
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The cornea is a thin, clear layer of tissue that covers the front of the eye. Like a car’s windshield, the cornea enables you to see clearly while protecting the inner parts of the eye. Keratoconus is a disease characterized by thinning and deformation of the cornea which can lead to blurry vision and nearsightedness.
STUDY SUMMARY
Identification of six new genetic variants associated with LDL and HDL cholesterol as well as triglyceride levels in the blood.
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Lipoproteins help transport cholesterol, an essential building block of cells, in the blood. Low-density lipoprotein, LDL, is associated with accumulation of cholesterol in the blood and an increased risk of heart diseases and stroke. However, high-density lipoprotein, HDL, is linked to lower cholesterol levels as it helps remove cholesterol from your bloodstream.
STUDY SUMMARY
This report is based on a study that discovered 57 genetic variants associated with insomnia.
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STUDY DESCRIPTION
Insomnia is a sleep problem where you have trouble falling asleep, staying asleep, or getting good quality sleep. It can last for a short or long time and may be caused by a number of factors including stress, anxiety, and medications. It can make you feel tired and reduce focus. Over time, insomnia can increase an individual’s risk of developing anxiety disorders, alcohol abuse, depression, and heart disease. This study aimed to discover genetic variants associated with insomnia by examining over 500,000 individuals of European ancestry.
STUDY SUMMARY
Discovery of novel genetic variants associated with an increased risk of chronic lymphocytic leukemia.
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Chronic lymphocytic leukemia (CLL) is a form of cancer that is characterized by an overproduction of lymphocytes (a type of white blood cells) that makes it difficult for the other blood cells to function properly.
STUDY SUMMARY
The risk of strokes is associated with genetic variants that are also linked to various cardiovascular traits.
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Strokes are the second leading cause of death worldwide. They are the sudden deprivation of oxygen and blood flow to the brain, resulting in the death of brain cells. A large part of a person's risk of experiencing strokes can be traced to genetics.
STUDY SUMMARY
Discovery of 4 genomic regions associated with the sporadic Creutzfeldt-Jakob disease, a form of neurodegenerative prion disease.
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Prion diseases occur in the brain when certain proteins fold into the wrong configuration, causing them to aggregate together. Neurodegeneration begins to occur as a result of this clumping leading to a progressive and fatal form of dementia. Prion diseases can be inherited (familial) or can occur through the consumption of infected meat (variant), but the vast majority of cases are known to occur spontaneously (sporadic). Little is known about what may make an individual more susceptible to acquiring a form of prion disease known as sporadic Creutzfeldt-Jakob disease (sCJD).
STUDY SUMMARY
Identification of 697 genetic variants associated with height in a study of over 250,000 individuals.
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STUDY DESCRIPTION
In the past 150 years, the average human’s height has increased by around 4 inches. While environmental factors like nutrition have a strong influence on the growth of a human body, it is clear that height is a highly heritable trait. In fact, up to 80% of a person’s height is thought to be genetically determined! However, height is a very complex trait that is influenced by many variants across the genome.
STUDY SUMMARY
Identification of 8 novel genomic variants associated with cutaneous squamous cell carcinoma (SCC).
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Cutaneous squamous cell carcinoma (SCC) is the second most common form of skin cancer. Most SCCs can be easily removed, but if left untreated, they can grow deeper into the skin and the cancer cells can spread to other parts of the body.
STUDY SUMMARY
Detection of 19 genetic variants associated with feelings of loneliness.
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STUDY DESCRIPTION
Humans are social creatures and feelings of loneliness arise when we don’t feel as socially connected as we want. Chronic loneliness has been correlated with elevated risks of various mental and physical diseases, and even premature death. While loneliness can be a result of social and environmental circumstances, some genetic factors may lead to a predisposition to loneliness.
STUDY SUMMARY
Identification of 29 novel genomic regions associated with male puberty timing.
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STUDY DESCRIPTION
The timing of puberty, which is the period of sexual maturation for teenage boys and girls, varies widely across individuals. It is a trait that is determined by a combination of environmental and genetic factors. This study aimed to understand the genetic basis of male puberty timing specifically, using voice breaking as a proxy for puberty. To this end, the researchers examined the genomes of over 200,000 males of European descent.
STUDY SUMMARY
Identification of genetic variants near the PDE4B gene that are associated with anxiety and stress disorders.
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Anxiety disorders, where a person experiences excessive and inappropriate fear and anxiety, affect more than 20% of people at some point in their lives. Although stress-related disorders are a separate diagnosis, people often have both stress and anxiety disorders and the symptoms overlap. This study examined genetic data of over 12,000 Danish individuals diagnosed with various anxiety or stress-related disorders and over 19,000 controls.
STUDY SUMMARY
Discovery of 10 genetic variants associated with age at first birth.
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Human reproductive behavior has been associated with infertility and neuropsychiatric disorders. While environmental factors (e.g. cultural and economics) are strongly linked to reproductive behavior, genetics is thought to explain up to 50%.
STUDY SUMMARY
Discovery of 17 genetic variants associated with brain aneurysms.
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Brain aneurysms occur when blood vessels in the brain balloon outward and fill with blood. Roughly 1 in 50 people live with an aneurysm, and an estimated 50-80% of aneurysms do not lead to medical issues. However, occasionally brain aneurysms rupture, causing blood to flow out into the surrounding brain tissue. Ruptured brain aneurysms are a medical emergency and have a fatality rate of about 50%.
STUDY SUMMARY
Discovery of 27 genomic regions associated with cerebral small vessel disease.
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Like all other organs and tissues across the body, the brain needs a constant supply of blood to receive oxygen and nutrients. Cerebral small vessel disease is a condition that results from damage to the small blood vessels in the brain. The disease can affect the brain function, eventually leading to cognitive decline and problems with muscle coordination.
STUDY SUMMARY
Identification of 48 genetic loci, including 40 novel loci, associated with the brain’s subcortical volume.
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STUDY DESCRIPTION
The brain is a complex organ made up of many regions that have different functions allowing us to talk, walk, think, breathe, and do nearly everything else required to live. One set of brain regions residing deep within the brain are called ‘subcortical structures’. These structures, which include the amygdala, pituitary gland, brainstem, and others, play critical roles in learning, memory, and emotion. However, changes of subcortical structures are also linked with various cognitive and psychological disorders.
STUDY SUMMARY
Identification of 8 genetic variants associated with pelvic organ prolapse.
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The muscles that support a woman’s pelvic organs can weaken, causing organs like the bladder and uterus to drop lower in the pelvis. This condition is called pelvic organ prolapse, which results in symptoms like pressure in the pelvic area, bowel problems, and sexual dysfunction. Pelvic organ prolapse is very common, affecting nearly 1 in 3 women at some point during their lifetime.
STUDY SUMMARY
Discovery of 2 genetic regions associated with susceptibility to stomach infection with Helicobacter pylori bacteria.
STUDY DESCRIPTION
Helicobacter pylori is a bacterium that lives in the stomach of many people. Usually, it does not cause disease, but in some people, it can cause stomach sores and inflammation, which if left untreated can develop into stomach cancer.
STUDY SUMMARY
This study discovered 41 new genetic variants that are associated with asthma, hay fever, eczema or a combination of the three.
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Asthma, hay fever, and eczema are common immunological diseases. All three conditions are linked to the body’s immune system response to an irritant or allergen, though their symptoms are different. Previous genome studies have discovered few variants that explain the genetics of these diseases.
STUDY SUMMARY
This report is based on a study that discovered 18 genetic variants associated with orofacial clefts.
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Cleft lips and cleft palates are birth defects that occur during the development of a baby’s lips and mouth, respectively. Babies with these conditions are born with openings in their lips or roof of their mouth, which can affect activities such as speaking and eating. Together, these 2 birth defects are known as orofacial clefts. Orofacial clefts are a common condition, occurring in nearly 1 in 1000 births, but their causes are not fully understood.
STUDY SUMMARY
Identification of 10 genetics variants associated with healthspan, or the number of years in good health.
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Aging is an inevitable part of life. While we may all want to live longer, we don’t want our final years to be defined by sickness. Though many people are familiar with “lifespan”, or the length of time that someone lives, fewer are familiar with the term “healthspan”. Healthspan refers to the length of time that an individual lives in good health, free of chronic diseases commonly associated with aging. These include heart disease, Alzheimer’s disease, diabetes, and various forms of cancer.
STUDY SUMMARY
Identification of novel genetic variants linked to autism spectrum disorder.
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Autism spectrum disorder affects cognitive development in childhood, often leading to impaired social skills, compulsive behavior, and obsessive interests. While autism spectrum disorder is thought to be highly heritable, only a few genetic variants have been linked to it.
STUDY SUMMARY
Identification of 54 genomic regions associated with melanoma risk.
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Melanoma is the most serious type of skin cancer. This study compared ~36,000 melanoma patients with ~375,000 healthy individuals of European descent and identified 68 genetic variants in 54 different genomic regions. The study also found associations between melanoma risk and lighter skin color as well as a larger number of moles on the body.
STUDY SUMMARY
This study identified novel genetic variants that may influence the subcortical brain structures which are involved in complex activities including movement, emotions, and learning.
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STUDY DESCRIPTION
The subcortical region consists of structures located below the outer layer of the brain. These structures have functions related to regulation of movement, learning, memory, and motivation. In this study, the volume of subcortical brain structures of 30,717 individuals was measured using Magnetic Resonance Imaging (MRI).
STUDY SUMMARY
Identification of 2 genetic variants associated with opioid use.
STUDY DESCRIPTION
Opioids are substances commonly used to treat pain. However, opioids are highly addictive which can result in misuse and fatal overdoses. This genome-wide study of over 41,000 individuals of European and African descent investigated genetic contributions to opioid use and dependence.
STUDY SUMMARY
Identification of 12 genetic variants associated with the heart’s stroke volume.
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STUDY DESCRIPTION
The human heart is a muscle that pumps blood throughout the body. It consists of 4 chambers: 2 atria (left and right) and 2 ventricles (left and right). Blood that has been enriched with oxygen in the lungs enters the left atrium and then flows into the left ventricle from where it’s pumped to all other parts of the body. Stroke volume is a measurement of how much blood is pumped out of the left ventricle during each beat.
STUDY SUMMARY
Identification of 3 genomic regions associated with squamous cell lung carcinoma.
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STUDY DESCRIPTION
Lung cancer is a condition in which cells in the lungs divide uncontrollably. Squamous cells are flat-shaped cells that line many organs in the body. Squamous cell lung carcinoma is a type of lung cancer that is caused by mutations in squamous cells that line the airways of the lungs. This lung cancer subtype accounts for 30% of all lung cancer cases and is often linked to a history of smoking.
STUDY SUMMARY
This report is based on a study that discovered 4 genetic variants associated with fibromuscular dysplasia.
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The body’s vasculature is a complex network of highways that deliver blood and other nutrients to all corners of the body. In particular, the vasculature consists of arteries and veins. Arteries carry oxygen-rich blood from the heart to the body’s tissues, while veins return the blood to the heart. For some, the body’s arteries can narrow or bulge, potentially causing a block or reduction in blood flow to the organs. This condition, known as fibromuscular dysplasia (FMD), can eventually lead to dizziness, chronic headaches, numbness, vision changes, and other issues.
STUDY SUMMARY
Prediction of atrial fibrillation risk using 5 genetic variants.
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STUDY DESCRIPTION
Atrial fibrillation (AFib) is an irregular heartbeat that is much faster than normal. It occurs when the two upper chambers of the heart beat out of sync with the lower chambers. This typically causes weakness and shortness of breath. This study sought to combine genetic and clinical factors to predict the risk of AFib in over 1000 individuals of Japanese descent.
STUDY SUMMARY
This report is based on a study that discovered 2 novel genetic variants associated with epilepsy.
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The cells in our brains communicate with each other through electrical signals. Normally, this signaling occurs in an orderly and highly-controlled fashion. Sudden alterations of this system have the potential to cause seizures, which may result in changes to an individual’s movement, behavior, or thoughts. For some, seizures occur repeatedly, in a condition known as epilepsy. Epilepsy often runs in families, and scientists suspect up to 70 percent of epilepsy cases are caused by genetic factors.
STUDY SUMMARY
Identification of 10 genetic variants linked to parental lifespan.
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Worldwide, the average lifespan is 70 years for males and 72 years for females. Many people, though, live well into their 90s or 100s. Though factors such as diet and access to health care influence how long an individual may live, genetics also plays a role. Overall, genetics may account for between 10-30% of the variation in lifespan. As a result, examining the lifespans of an individual’s parents may help predict the offspring’s expected lifespan.
STUDY SUMMARY
This report is based on a study that discovered 7 genetic variants associated with type 2 diabetes in children.
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Type 2 diabetes is an impairment in the way the body regulates and uses sugar (glucose) as a fuel. Over time, this causes a build-up of sugar in the blood. Having high blood sugar can cause numerous health complications, including kidney disease, blindness, and nerve damage. Type 2 diabetes is a significant public health crisis, but until recently it was considered an “adult-onset” disease. However, the incidence of type 2 diabetes in children has been growing in the past years.
STUDY SUMMARY
This report is based on a study that discovered 5 genetic variants associated with REM sleep behavior disorder (RBD).
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Rapid eye movement (REM) sleep is the phase of sleep during which most dreams occur. During REM sleep, an individual's brain activity, breathing rate, heart rate, and blood pressure increase, and the eyes move rapidly behind the eyelids. Normally, the muscles in the arms and legs become temporarily unable to move during REM sleep, but for some people, movements still occur. This condition, known as REM sleep behavior disorder (RBD), can lead those affected to kick, punch, or jump in response to their dreams. The onset of RBD has been found to be associated with the development of multiple neurological disorders, with over 80% of those affected developing Parkinson’s or dementia within 15 years.
STUDY SUMMARY
Identification of 6 novel genomic regions associated with lung adenocarcinoma.
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Lung cancer is a condition in which cells in the lungs divide uncontrollably. Lung adenocarcinoma is a subtype that accounts for ~40% of all lung cancers. It is caused by mutations in mucus-producing glandular cells of the lungs. On average, lung adenocarcinoma tends to grow more slowly than other subtypes of lung cancer.
STUDY SUMMARY
This report is based on a study that discovered 16 genetic variants associated with tinnitus.
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Hearing is critical to how we perceive the world around us and communicate with others. Some people may experience a ringing, buzzing, or pulsating noise that seems to be coming from inside their ear, with no outside source. This condition, known as tinnitus, affects around 1 in 10 people annually. Tinnitus can be short-lived, occurring after attending a loud concert or when taking certain medications, but for some tinnitus can become a chronic condition. To identify genetic variants associated with an individual’s propensity to experience tinnitus, this study examined over 130,000 individuals of European ancestry.
STUDY SUMMARY
Identification of 6 genetic variants associated with febrile seizures.
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STUDY DESCRIPTION
In small children, high fevers can induce convulsions, causing uncontrollable shaking and loss of consciousness. This condition is known as febrile seizures and is a terrifying experience for many parents. However, febrile seizures are typically harmless and also quite common, affecting 2 - 9% (depending on ethnicity) of children before the age of 5. Because febrile seizures are caused by fever, they can occur after vaccinations.
STUDY SUMMARY
Discovery of 143 genomic regions associated with 25-hydroxyvitamin D levels, an indicator of vitamin D levels in the body.
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Vitamin D is essential for the body. It helps to maintain strong bones, healthy teeth, and may also protect against an array of diseases such as type 1 diabetes. While vitamin D is not present in many foods we eat, our bodies naturally produce it as a response to sun exposure, giving vitamin D the nickname “sunshine vitamin”. Produced vitamin D is further processed by the body in a series of chemical reactions. One of these reactions turns vitamin D into 25-hydroxyvitamin D (25OHD), which is commonly measured as an indicator of vitamin D levels in the body.
STUDY SUMMARY
Identification of 28 genetic variants associated with the left ventricular end-systolic volume (LVESV).
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The human heart is a muscle that pumps blood throughout the body. It consists of 4 chambers: 2 atria (left and right) and 2 ventricles (left and right). Blood that has been enriched with oxygen in the lungs enters the left atrium and then flows into the left ventricle from where it’s pumped to all other parts of the body. Left ventricular end-systolic volume (LVESV) is the volume of blood that remains in the left ventricle at the end of a pump.
STUDY SUMMARY
Identification of 14 genetic variants associated with the left ventricular end-diastolic volume (LVEDV).
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STUDY DESCRIPTION
The human heart is a muscle that pumps blood throughout the body. It consists of 4 chambers: 2 atria (left and right) and 2 ventricles (left and right). Blood that has been enriched with oxygen in the lungs enters the left atrium and then flows into the left ventricle from where it’s pumped to all other parts of the body. Left ventricular end-diastolic volume (LVEDV) is the volume of blood in a relaxed left ventricle right before it contracts and pumps blood into the body.
STUDY SUMMARY
This report is based on a study that discovered 150 genetic variants associated with atrial fibrillation.
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STUDY DESCRIPTION
The beating of the heart is controlled by electrical signals that cause the heart to contract and relax in a coordinated manner. During atrial fibrillation (AF), the electrical signals that coordinate the contraction of the heart's upper chambers become disorganized. When the heart muscles contract in a rapid and irregular manner, blood in the heart can pool and potentially form clots. As a result, AF can lead to heart palpitations, shortness of breath, fatigue, and can also increase the risk of stroke. AF is a common condition, affecting millions of people worldwide.
STUDY SUMMARY
This report is based on a study that discovered 47 genetic variants associated with tooth decay and cavities.
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STUDY DESCRIPTION
The enamel is the outermost covering of the teeth that acts as a tough shell. However, bacteria, excess sugar, and acid can degrade the enamel over time. This breakdown leads to the formation of cavities and the destruction of the inner parts of the tooth, a condition known as caries. While caries is usually caused by poor oral hygiene and dietary choices, research suggests that some individuals may have a genetic predisposition to cavity formation.
STUDY SUMMARY
Identification of 4 regions of the genome associated with spontaneous coronary artery dissection (SCAD).
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STUDY DESCRIPTION
Arteries are blood vessels that carry blood from the heart to all parts of the body. Spontaneous coronary artery dissection (SCAD) is a condition in which a tear forms in an artery, causing blood to build up between the walls of the blood vessel. This build-up can lead to a blockage of blood flow, which can eventually lead to a heart attack. Though anyone can be affected by SCAD, the condition primarily affects women between the ages of 30 and 60. In fact, SCAD accounts for a quarter of all heart attacks in women under the age of 60.
STUDY SUMMARY
Identification of 6 genomic regions linked to iron level in the blood.
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STUDY DESCRIPTION
Iron is a mineral that is needed by our bodies for proper function. While all cells need iron, most of the body’s iron is used by red blood cells where it facilitates the transport of oxygen. While a low iron level can lead to illnesses, an elevated iron level is also dangerous. Hemochromatosis is a disease characterized by an elevated iron level and damage to the liver and heart. Body iron level is known to be a heritable trait.
STUDY SUMMARY
Identification of novel 3 regions of the genome associated with restless leg syndrome.
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STUDY DESCRIPTION
Restless leg syndrome (RLS) is a disorder of the nervous system that results in uncomfortable feelings in the legs, along with overpowering urges to move them. The condition is thought to affect more than 1 in 10 individuals in the United States. RLS appears to be a heritable condition, with between 40 and 90% of affected individuals having a parent or sibling that is also affected.
STUDY SUMMARY
Identification of 2 novel genetic variants associated with aortic calcification.
STUDY DESCRIPTION
The aorta is one of the main arteries in the heart that helps pump blood to the rest of the body. However, plaque called ‘calum deposits’ can build up around the aorta, resulting in a reduction of blood flow. This process characterizes aortic calcification, a condition that can be an indicator for a variety of other cardiovascular diseases.
STUDY SUMMARY
Identification of 10 genetic variants associated with longevity.
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STUDY DESCRIPTION
Longevity is a trait that is defined as having a longer lifespan than most people. This study specifically defined longevity as living longer than 90% of people. Though factors such as diet and access to health care influence how long an individual may live, genetics also plays a role in longevity.
STUDY SUMMARY
This study found several genetic variants associated with coronary artery disease by including a more ethnically diverse population than previous studies.
STUDY DESCRIPTION
Coronary artery disease (CAD) is the main cause of death and disability worldwide. It is the narrowing or blocking of the coronary arteries, which can eventually cause a heart attack or stroke. It is estimated that 30-60% of the individual variation in the risk of CAD is due to genetic factors.
STUDY SUMMARY
Identification of 6 genomic regions associated with heavy alcohol consumption.
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STUDY DESCRIPTION
Heavy alcohol consumption is a common disorder. It is characterized by heavy drinking patterns that can lead to dependence on alcohol, and eventually result in major health issues like liver disease and heart problems.
STUDY SUMMARY
Discovery of 2 genetic variants associated with the levels of S100B cytokine in the blood, a marker of inflammation.
STUDY DESCRIPTION
Inflammation is a defense response formed by the body’s immune system in response to injury or illness, but can also be initiated due to stress and environmental factors. While acute inflammation generally helps repair damage in the body, chronic inflammation can cause a host of issues such as arthritis, heart disease, and dementia. One group of proteins particularly important for the inflammatory process are known as cytokines. Cytokines circulate in the blood and help coordinate the immune system response.
STUDY SUMMARY
Identification of 175 genomic regions associated with the risk of coronary artery disease.
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STUDY DESCRIPTION
Like all other organs and tissues in the body, the heart requires a supply of blood to function. For the heart, the system that supplies its blood is known as the coronary circulation. Coronary artery disease occurs when the coronary arteries become damaged or diseased. As a consequence of decreased blood flow, less oxygen can reach the heart. Over time, this may result in heart attacks, making coronary artery disease the leading cause of death for both men and women.
STUDY SUMMARY
Identification of 12 novel genomic regions associated with age-related macular degeneration.
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STUDY DESCRIPTION
The retina is the light-sensitive nerve layer that lines the back of the eye. Age-related macular degeneration describes damage to the macula, the area of the retina that is responsible for central, high-resolution, color vision. Age-related macular degeneration is the leading cause of blindness among elderly individuals, affecting nearly 160 million people worldwide.
STUDY SUMMARY
Identification of 70 regions of the genome associated with walking pace.
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STUDY DESCRIPTION
Walking is an excellent leisure activity that is associated with benefits to overall health and fitness. For example, previous studies found that an increased pace of walking is associated with a decreased risk of death from cardiovascular diseases and various forms of cancer. To identify the genetic factors that influence walking pace, this study enrolled over 450,000 individuals of European descent.
STUDY SUMMARY
This report is based on a study that discovered 282 genetic variants associated with an individual’s age at first sexual intercourse.
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STUDY DESCRIPTION
Sexual activity is a basic and natural part of our development as humans. By 18 years of age, roughly 65% of individuals have had sexual intercourse, and that number rises to nearly 93% by the age of 25. The age that an individual begins having sexual intercourse can have implications on their reproductive health, development, mental health, and various behaviors. While many factors influence an individual’s age at the time of first sexual intercourse, genes also play a role in when we first have sex.
STUDY SUMMARY
This report is based on a study that discovered 11 novel genetic variants associated with lacunar stroke.
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STUDY DESCRIPTION
A stroke occurs when the blood flow to the brain is blocked, which results in brain cells being starved of oxygen. A lacunar stroke is a type of stroke, caused by the blockage of arteries deep in the brain. Lacunar strokes represent about 25% of all strokes, making them one of the most common types of stroke. Common symptoms of a lacunar stroke include slurred speech, difficulty moving, confusion, and loss of consciousness.
STUDY SUMMARY
Identification of 36 genomic regions associated with keratoconus, a thinning of the cornea that can cause blindness.
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STUDY DESCRIPTION
The cornea acts as the “front window” of the eye, allowing in light but also protecting against dirt and germs that could damage the inner parts of the eye. Keratoconus is a disease that causes the thinning of this protective layer. Over time, the thinning of the cornea causes it to change its shape, which can eventually lead to diminished vision and blindness. While eye trauma is a leading cause of keratoconus, genetics also plays a role in many cases.
STUDY SUMMARY
Discovery of 3 genetic variants that are associated with attractiveness to mosquitoes.
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STUDY DESCRIPTION
There are many enjoyable aspects of spending time outdoors during the summer: campfires, stargazing, and picnics are just a few. Unfortunately, trying to enjoy those long, warm days also means having to contend with mosquitoes trying to feast on you. In addition to being a nuisance and causing itchy bites, mosquitoes are known to transmit many serious diseases, like malaria. But, have you ever wondered why it seems like mosquitoes seem to pick on certain people while leaving others alone?
STUDY SUMMARY
Identification of 25 genetic loci that are associated with an increased risk of gastroesophageal reflux disease.
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STUDY DESCRIPTION
Gastroesophageal reflux disease (GERD) occurs when stomach acid flows up into the esophagus, or food pipe. This acid irritates the lining of the esophagus, and over time can lead to an increased risk of esophageal cancer. While nearly a third of an individual's risk of developing GERD is believed to be heritable, no genetic loci that are linked to GERD have been identified to date.
STUDY SUMMARY
Genetic variants in the SCN1A and PCDH7 genes may influence the risk of epilepsy.
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STUDY DESCRIPTION
Epilepsy is a condition that causes unpredictable seizures and other health problems. This study looked at patients with general epilepsy as well as specific types of epilepsy (focal and unclassified) to determine which genetic variants are linked to the disease.
STUDY SUMMARY
Identification of a novel regions on chromosome 11 that is associated with lower body mass index, lower insulin resistance, and favorable blood lipid levels.
STUDY DESCRIPTION
Obesity is a serious health problem that is caused by a combination of environmental and genetic risk factors. It is increasing in prevalence worldwide. Although genome-wide association studies have identified ~1,000 genetic variants associated with body mass index (BMI), which is a proxy of obesity, these genetic variants only explain ~6% of the heritability of BMI.
STUDY SUMMARY
Identification of 5 novel genetic regions linked to the length of telomeres.
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STUDY DESCRIPTION
The DNA in our cells is tightly packed into structures called chromosomes. The sequences at the ends of chromosomes form caps known as telomeres. These structures help to protect our chromosomes much like how the plastic tips on shoelaces protect the ends from fraying. Over many cell divisions during which a cell’s entire DNA is copied, telomeres progressively get shorter until the DNA gets damaged and the cells eventually die. It is estimated that up to 80% of an individual’s telomere length is heritable.
STUDY SUMMARY
Genome-wide identification of 68 variants associated with protein in urine, a key indicator of chronic kidney disease.
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STUDY DESCRIPTION
The kidneys have an important role of filtering blood to remove wastes from the body. When the kidneys become damaged, important proteins that normally stay in our blood can leak out into our urine. Increased urinary levels of proteins, called proteinuria, are used to diagnose chronic kidney disease. To date, only a few genetic risk factors contributing to heightened levels of protein in urine have been identified.
STUDY SUMMARY
Identification of 534 genetic variants associated with the HDL cholesterol level in the blood and analysis of its contribution to the risk of coronary heart disease.
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STUDY DESCRIPTION
Coronary heart disease (CHD) is a condition that develops when the heart's arteries cannot supply enough oxygen to the heart muscle. Coronary heart disease is the leading cause of death in the United States. It occurs when plaque builds up in the heart's arteries and blocks the blood flow to the heart. Arterial plaque consists of multiple substances that circulate in the blood. One of the substances that the study examined is HDL (high-density lipoprotein) cholesterol, also known as the “good” cholesterol.
STUDY SUMMARY
Discovery of 10 new genomic regions associated with atopic dermatitis, also known as eczema.
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STUDY DESCRIPTION
The skin is the largest organ in the body, serving as a barrier to the outside world. The immune system helps support this barrier function, attacking “foreign” substances that come in contact with the skin. When this happens, the skin can become inflamed, red, and itchy. Atopic dermatitis, also known as eczema, is a skin inflammation triggered by environmental factors that are actually not harmful to the body. Among many others, these factors can include temperature, soap, and clothing. Atopic dermatitis is highly heritable, with genetics determining up to 90% of an individual’s susceptibility to the condition.
STUDY SUMMARY
Discovery of 10 genetic variants associated with familial short stature.
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STUDY DESCRIPTION
Height varies wildly across the globe! In the Netherlands, the average height for men and women is 6ft and 5ft 7in, respectively. Across the ocean, men and women in Peru are, on average, 5ft 5in and 4ft 11in tall. While environmental factors do contribute to height differences, studies of twins have estimated that nearly 86% of a person’s height may be due to genetics. This study aimed to understand the genetics of familial short stature, which is defined as having a shorter stature than 97% of people of the same age and gender.
STUDY SUMMARY
Identification of genetic regions associated with dietary habits.
STUDY DESCRIPTION
Eating and drinking habits can influence one’s risk for, or protection from, certain diseases. This study sought to identify genetic variants that are linked to different dietary habits by examining genetic information and diet of over 165,000 Japanese individuals enrolled in the BioBank Japan Project.
STUDY SUMMARY
Identification of 2 novel genetic variants associated with an increased risk of developing diffuse large B-cell lymphoma.
STUDY DESCRIPTION
B-cells are a type of white blood cell that plays an important role in our immune system by producing antibodies that help detect and destroy germs. However, abnormal B-cell growth has the potential to form diffuse large B-cell lymphoma (DLBCL), an aggressive form of cancer. A family history of lymphoma has previously been associated with an increased risk of developing the disease.
STUDY SUMMARY
Discovery of 16 novel risk loci for age-related macular degeneration.
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STUDY DESCRIPTION
The retina, located at the back of the eye, contains cells that detect light and generate signals that are sent to the brain enabling us to visualize the world around us. The center part of the retina is known as the macula. It allows us to see in high-resolution and perceive colors. Degeneration of the macula is one of the leading causes of vision loss among the elderly, affecting nearly 160 million individuals worldwide.
STUDY SUMMARY
Bipolar disorder is linked to several genetic variants, some of which are in the ADCY2 gene.
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STUDY DESCRIPTION
Bipolar disorder (aka manic-depressive illness) can cause abnormal shifts in mood, energy, and activity levels. Moods can range from periods of extremely “up” or energized behavior (called manic episodes) to extremely “down” or hopeless periods (called depressive episodes). Bipolar disorder is likely a polygenic disease, meaning that it is probably caused by variants in many genes.
STUDY SUMMARY
Identification of 3 regions of the genome associated with sleep quality.
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STUDY DESCRIPTION
Sleep quality is very important for a person’s overall health and well-being. Poor sleep quality has been shown to lead to various health issues, ranging from heart disease to depression. Sleep quality is determined by multiple factors including sleep duration, the time it takes to fall asleep, and the number of times a person wakes up during the night. It’s estimated that genetic factors may explain over 30% of the observed variation in sleep quality. To identify those genetic factors, this genome-wide association study examined over 100,000 individuals across different ethnicities.
STUDY SUMMARY
This report is based on a study that discovered 11 novel genetic variants associated with eosinophilic esophagitis.
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STUDY DESCRIPTION
Eosinophils are a type of white blood cell that help to fight off infections in the body by promoting inflammation. However, sometimes eosinophils can be damaging to the body. When eosinophils cause inflammation in the esophagus, the tube that connects the mouth to the stomach, a condition called eosinophilic esophagitis (EoE) can develop.
STUDY SUMMARY
Increased risk of schizophrenia is associated with a genetic variant in the intron of the MIR137 gene.
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STUDY DESCRIPTION
Schizophrenia is a severe mental disorder that affects how a person thinks and behaves. Individuals with schizophrenia may experience hallucinations, paranoia, and confused thoughts. It is known to be a heritable disorder, meaning it can be passed down from generation to generation.
STUDY SUMMARY
Identification of 6 novel genomic regions associated with leukocyte telomere length (LTL).
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STUDY DESCRIPTION
Telomeres are protective caps at the ends of chromosomes which get shorter as our bodies age. Telomere length, typically measured in leukocytes from blood samples, can be used as a biomarker for aging and age-related diseases like coronary artery disease and some cancers.
STUDY SUMMARY
Bladder cancer may be associated with genes linked to telomere length and inflammation.
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STUDY DESCRIPTION
Bladder cancer is one of the most common cancers worldwide. Men are three to four times more likely to develop bladder cancer than women. Prior to this study, 11 genetic variants were known to be associated with bladder cancer.
STUDY SUMMARY
Discovery of 17 regions of the genome associated with a risk of myeloproliferative neoplasms, a type of blood cancer.
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STUDY DESCRIPTION
Blood cells, including red blood cells, white blood cells, and platelets, are produced in the bone marrow, which is a spongy tissue inside bones. Myeloproliferative neoplasms are a type of blood cancer that occurs when the bone marrow overproduces blood stem cells. Common symptoms of myeloproliferative neoplasms include feelings of weakness, tiredness, headaches, and fever.
STUDY SUMMARY
This study identified eight new loci associated with re-experiencing post-traumatic stress disorder (PTSD) trauma.
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STUDY DESCRIPTION
Post-traumatic stress disorder (PTSD) is a psychiatric disorder that can occur when individuals experience or witness a traumatic event such as a natural disaster, a serious accident, or violence. Re-experiencing the trauma is the most characteristic symptom of PTSD. While many factors influence the development of PTSD, genetic variants may lead to an increased predisposition of developing the disorder.
STUDY SUMMARY
Identification of 3 genetic variants associated with essential tremor.
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STUDY DESCRIPTION
Essential tremor is a neurological disorder characterized by involuntary shaking, especially of the hands, legs, and head. Essential tremor occurs when one tries to use the affected muscles during voluntary movements such as eating and writing. This differentiates the essential tremor from Parkinson's disease that causes shaking of resting muscles.
STUDY SUMMARY
Identification of 22 novel genomic regions associated with QT interval duration, which is the time it takes for the heart to recharge for the next beat.
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STUDY DESCRIPTION
An electrical wave travels through your heart every time it beats. After every heartbeat, your heart needs time to repolarize, or “recharge,” before the next beat. This time is known as the QT interval. The longer the QT interval, the longer it takes your heart to recharge between heartbeats. Overly long QT intervals are a risk factor for heart-related conditions, such as abnormal heartbeats and sudden cardiac death.
STUDY SUMMARY
Identification of 220 genetic variants associated with the LDL cholesterol level in blood and analysis of its contribution to the risk of coronary heart disease.
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STUDY DESCRIPTION
Coronary heart disease (CHD) is a condition that develops when the heart's arteries cannot supply enough oxygen to the heart muscle. Coronary heart disease is the leading cause of death in the United States. It occurs when plaque builds up in the heart's arteries and blocks the blood flow to the heart. Arterial plaque consists of multiple substances that circulate in the blood. One of the substances that the study examined is LDL (low-density lipoprotein) cholesterol, also known as the “bad” cholesterol.
STUDY SUMMARY
Discovery of 13 new genomic regions associated with celiac disease.
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STUDY DESCRIPTION
Celiac disease is characterized by an inability to eat gluten, a protein found in wheat and some other types of grain. The disorder is an autoimmune disease, in which the body’s own immune system attacks the intestines in the presence of gluten. This can lead to pain, diarrhea, and other digestive problems.
STUDY SUMMARY
A genetic variant on chromosome 6 may be linked to dilated cardiomyopathy.
STUDY DESCRIPTION
Dilated cardiomyopathy accounts for one-third of all heart failure cases. It occurs when the heart can’t pump blood at a normal rate due to the enlarging and weakening of the left ventricle. The left ventricle is a chamber of the heart that is responsible for pumping blood throughout our circulatory system.
STUDY SUMMARY
Identification of 4 genomic regions associated with membranous nephropathy, an autoimmune disease of the kidneys.
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STUDY DESCRIPTION
Kidneys are organs that remove waste and excess water from the blood, which eventually ends up as urine. Membranous nephropathy (MN) is an autoimmune disease that leads to kidney failure. This genome-wide association study attempted to identify genetic variants associated with an increased risk of membranous nephropathy.
STUDY SUMMARY
Identification of a region of the genome associated with how intensely fish smell is perceived.
STUDY DESCRIPTION
The perception of smell is enabled by olfactory receptors, which are proteins that bind odor molecules. Humans have about 350 olfactory receptor genes that each can detect a number of different odor compounds that together can create a vast number of different scents. However, when presented with the same smell, different individuals may perceive the smell’s intensity differently. This genome-wide association study looked at the genomes of over 11,000 Icelandic people to identify the genetics underlying differences in perception of the smell of fish.
STUDY SUMMARY
Genetic variants in genes expressed in the brain are associated with major depressive disorder.
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STUDY DESCRIPTION
Major depressive disorder (MDD), or depression, is a common mental disorder characterized by intense feelings of sadness for extended periods of time that impacts the mood, behavior, sleep, and appetite of an individual. It may also be accompanied by an increased risk of suicide or suicidal thoughts and a general disinterest for activities that used to cause excitement. Genetics are a known factor in a person's risk of developing depression.
STUDY SUMMARY
Identification of 4 genetic variants associated with knee pain.
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STUDY DESCRIPTION
Your knee is the largest joint in the body, and it is critical for supporting your body weight as you walk, jog, stand upright, and bend down. Years of wear and tear can take a toll on your knees, causing knee pain. In fact, ~ 50% of individuals over the age of 50 experience knee pain.
STUDY SUMMARY
Newly identified genetic variants in genes that regulate cell development and cell death are associated with higher intelligence.
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STUDY DESCRIPTION
Intelligence is associated with positive socio-economic and health-related outcomes. The more intelligent a person is, the more likely they are to lead long, healthy lives and less likely to experience negative life events like bankruptcy. To better understand the genetic influence of intelligence, this study analyzed data from multiple previous genome-wide association studies.
STUDY SUMMARY
Identification of 27 genetic regions associated with cortical thickness.
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STUDY DESCRIPTION
The cerebral cortex is the outer layer of the brain that is responsible for cognitive tasks such as perception, thought, and memory. The thick cortex of the human brain is believed to have evolved to fulfill these functions. To identify genetic variants associated with cortical thickness, this study combined genetic data with brain imaging data from over 50,000 individuals.
STUDY SUMMARY
Discovery of 46 new loci associated with alcohol consumption and links to neuropsychiatric disorders like schizophrenia.
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STUDY DESCRIPTION
Excessive alcohol consumption is one of the main causes of death and disability worldwide with a mortality rate of up to 2.2% and 6.8% for women and men, respectively. Alcohol consumption is a heritable complex trait, but only a few associated genetic variants have been identified to date.
STUDY SUMMARY
Identification of 258 genetic variants associated with the corneal resistance factor.
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STUDY DESCRIPTION
The cornea is a dome-shaped “window” covering the front part of the eye. It serves to both protect the eye and focus light to help us see. Damage to the cornea can be detrimental to eyesight, so doctors commonly use a number of metrics to measure the cornea’s health. One metric is the corneal resistance factor, which measures the total resistance ability of the cornea. A low corneal resistance factor has previously been connected to glaucoma and other disorders of the eye.
STUDY SUMMARY
Identification of 5 risk variants associated with the development of gliomas.
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STUDY DESCRIPTION
Glial cells are found in the brain, spine, and other parts of the nervous system. The function of the glial cells is to protect and support the nervous system. Gliomas are a form of cancer that result from the uncontrolled growth of glial cells. To identify risk variants for glioma, this study examined the genetic information of over 11,000 individuals of Western European ancestry.
STUDY SUMMARY
Identification of multiple genetic variants associated with human longevity.
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STUDY DESCRIPTION
The average human lifespan has increased significantly over the past two centuries. However, genetic factors that determine human longevity are not well understood.
STUDY SUMMARY
This report is based on a study that discovered 20 genetic variants associated with mitochondrial heteroplasmy.
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STUDY DESCRIPTION
Mitochondria are commonly known as “the powerhouse of the cell”. They also have their own small genomes that are distinct from the nuclear genome of the cell. Mutations in the genomes of mitochondria can lead to a state called “heteroplasmy”, which means that multiple versions of mitochondrial DNA exist within the same cell or person. Heteroplasmy is caused by mutations of mitochondrial DNA and can result in disease if the mutations disrupt the function of mitochondria.
STUDY SUMMARY
This study links several cell signaling pathways to the risk of developing high blood pressure.
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STUDY DESCRIPTION
High blood pressure, also called hypertension, is a major risk factor for many diseases, including heart disease and stroke. High blood pressure is thought to be highly heritable, but the genetic factors that influence the risk of high blood pressure are not well understood.
STUDY SUMMARY
Identification of 206 genetic variants associated with a risk of developing breast cancer.
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STUDY DESCRIPTION
Breast cancer is currently the second most common cancer among women (behind skin cancer), affecting nearly 1 in 8 during their lifetime. Nearly 10% of all cases of breast cancer are thought to be hereditary.
STUDY SUMMARY
Susceptibility to melanoma is associated with variants in the ATM and CASP8 genes.
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STUDY DESCRIPTION
Melanoma is a skin cancer that occurs when pigment-producing skin cells mutate and become cancerous. To identify genetic variants associated with the development of melanoma, this study examined 11,389 individuals of European ancestry.
STUDY SUMMARY
Discovery of 14 novel genetic loci associated with adolescent idiopathic scoliosis, or abnormal curvature of the spine.
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STUDY DESCRIPTION
Adolescent idiopathic scoliosis (AIS) is a sideways curvature of the spine (greater than 10 degrees) that appears in children and adolescent ages 10 to 18. AIS is a common disease, affecting 2-3% of adolescents worldwide. In fact, ~30% of individuals with AIS have a family history of scoliosis, suggesting that genetics plays a role in AIS development.
STUDY SUMMARY
Identification of 2 genomic regions associated with cannabis use disorder.
STUDY DESCRIPTION
In the United States, over 20 million people consume cannabis every month. About 1 in 10 users of cannabis will become dependent, leading to a condition known as cannabis use disorder. Individuals afflicted by cannabis use disorder may develop irritability, memory problems, and depression. It is estimated that over 50% of an individual’s risk of developing cannabis use disorder can be explained by genetic factors.
STUDY SUMMARY
Identification of genetic variants that influence the risk of Alzheimer’s disease.
STUDY DESCRIPTION
Alzheimer’s disease causes continual degeneration of the brain, which results in a variety of effects ranging from memory loss to personality change. Prior studies show that variants in the TREM2 gene can increase risk of Alzheimer’s disease. The TREM2 protein is found in the cerebrospinal fluid surrounding the brain and spinal cord. It plays an important role in activating the immune cells that help protect and repair our central nervous system.
STUDY SUMMARY
This report is based on a study that discovered 6 genetic variants associated with irritable bowel syndrome.
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STUDY DESCRIPTION
Irritable bowel syndrome (IBS) is a chronic condition that can cause abdominal cramping, bloating, and a change in bowel habits. Some people with the disorder have constipation, others have diarrhea, and some go back and forth between the two. Although IBS can cause a great deal of discomfort, it does not harm the intestines. Overall, IBS is a common condition thought to affect between 10 and 15% of people in the United States.
STUDY SUMMARY
Genetic variants in genes involved in transcription, cell signaling, and the immune system are associated with the risk of colorectal cancer.
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STUDY DESCRIPTION
Colorectal cancer occurs in either the colon or rectum, which are parts of the large intestine. It is the third most common cancer in the United States, but genetic risk factors of colorectal cancer remain poorly understood.
STUDY SUMMARY
Restless leg syndrome is associated with variants near the MEIS1 gene and in the TOX3 gene.
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STUDY DESCRIPTION
Restless leg syndrome causes uncomfortable sensations in the legs and irresistible urges to move them. This most often affects the patient at night, making it difficult to get a good night’s sleep. While previous genome-wide studies have discovered variants correlated to this condition, they do not explain all of the heritability of it.
STUDY SUMMARY
Discovery of 12 regions of the genome associated with hypertrophic cardiomyopathy, a disease that causes the heart’s walls to become thicker than normal.
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STUDY DESCRIPTION
The heart pumps blood throughout the body, supplying oxygen and nutrients that are critical to sustaining life. Hypertrophic cardiomyopathy (HCM) is a condition that develops when the walls of the heart become thicker, which in turn reduces the amount of blood that can be pumped with each heartbeat. HCM can cause chest pain and abnormal heart rhythms, and can eventually contribute to strokes and heart failure. It is estimated that 1 in 500 people have HCM, though many are undiagnosed.
STUDY SUMMARY
Identification of over 100 genetic variants associated with glaucoma.
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STUDY DESCRIPTION
Glaucoma is a medical condition characterized by damage to the eye’s optic nerve usually due to increased pressure in the eye. Because no cost-effective way to screen for glaucoma currently exists, researchers explored the use of polygenic risk scores to determine an individual’s risk.
STUDY SUMMARY
Identification of 2 novel genetic variants that are associated with facial attractiveness.
STUDY DESCRIPTION
Facial attractiveness is a complex human trait. Though commonly attributed to sociological factors, there are genetic influences on facial beauty in males and females. This genome-wide association study identified 2 sex-specific genetic variants associated with facial attractiveness by examining over 4,000 individuals of European ancestry.
STUDY SUMMARY
Identification of 4 novel genomic regions associated with lung cancer.
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STUDY DESCRIPTION
Lung cancer is a condition in which cells in the lungs divide uncontrollably. It is the leading cause of cancer-related deaths in the United States. There are two main types of lung cancer: small cell lung cancer and non-small cell cancer, with the latter comprising 80 to 85% of all lung cancers. Although smoking is the most common risk factor associated with lung cancer, genetics is also thought to play a role.
STUDY SUMMARY
Discovery of novel genetic variants associated with HER2-enriched-like breast cancer.
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STUDY DESCRIPTION
Breasts are complex structures with multiple cell types which can give rise to multiple types of cancer. Breast cancers are classified by what receptors cancer cells have on the outside. This classification is helpful for predicting outcomes and effective treatments. Breast cancers that use the human epidermal growth factor 2 receptor (HER2+) make up 15-30% of all breast cancers. HER2+ breast cancers are historically associated with poor prognosis and an increased recurrence, but there are now new drugs that specifically target the HER2 receptor and improve survival.
STUDY SUMMARY
Identification of 115 genetic variants associated with the size of the optic disc.
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STUDY DESCRIPTION
The optic disc is an oval structure in the back of the eye that represents the exit point of the optic nerve that connects the eye to the brain. A small optic disc size is correlated with vulnerability of optic nerves to various degenerative diseases.
STUDY SUMMARY
This report is based on a study that discovered 22 genetic variants associated with the occurrence of hernias.
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STUDY DESCRIPTION
A hernia occurs when part of an internal organ or tissue bulges through a weak area of muscle. Many hernias happen in areas around the abdomen, including the groin, stomach, and belly button. Hernias are a fairly common occurrence and are often caused by lifting heavy objects or excessive coughing. When left untreated, they can cause pain and health problems. To discover genetic variants associated with the development of hernias, this study examined over 65,000 individuals of European ancestry.
STUDY SUMMARY
Identification of 11 genetic variants associated with retinal detachment.
63th
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STUDY DESCRIPTION
The retina is a thin layer of cells in the back of the eye that detects light and enables vision. Retinal detachment is a serious medical condition that occurs when the retina is pulled away from its normal position and damaged in the process. If retinal detachment is not immediately treated it can result in permanent blindness. Though common, genetic predisposition to retinal detachment is not well understood.
STUDY SUMMARY
This report is based on a study that discovered 7 novel genetic variants associated with predisposition to Alzheimer’s disease.
62th
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STUDY DESCRIPTION
The brain is made up of billions of nerve cells that work to connect and communicate to one another. In Alzheimer’s disease, these connections are progressively lost and can seriously affect a person's ability to carry out daily activities. Alzheimer’s disease usually begins after the age of 60, and the risk of developing the condition goes up as an individual gets older. Though age is associated with Alzheimer’s disease, genetics also contribute to an individual’s predisposition to the condition.
STUDY SUMMARY
Identification of over 24 genetic variants that correlate with the development of glaucoma.
62th
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STUDY DESCRIPTION
Glaucoma is one of the leading causes of blindness in older adults, though it can occur at any age. It develops when the optic nerve that connects the eye to the brain becomes damaged, often as a result of increased pressure within the eye. One method of halting glaucoma progression is to decrease that pressure.
STUDY SUMMARY
Identification of 202 genetic variants associated with waist-to-hip ratio.
61th
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STUDY DESCRIPTION
Increased body fat is commonly associated with an increased risk of various cardiovascular and metabolic diseases, including coronary artery disease and type 2 diabetes. The waist-to-hip ratio (WHR) is a common measurement of the distribution of fat around the body. It is obtained by dividing the circumference (or distance around) the waist by the circumference of the hips. A healthy WHR is below 0.9 for men and below 0.85 for women. A WHR above 1.0 may signal an increased risk of disease.
STUDY SUMMARY
Identification of 440 genetic variants associated with the triglyceride level in the blood and analysis of its contribution to the risk of coronary heart disease.
61th
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STUDY DESCRIPTION
Coronary heart disease (CHD) is a condition that develops when the heart's arteries cannot supply enough oxygen to the heart muscle. Coronary heart disease is the leading cause of death in the United States. It occurs when plaque builds up in the heart's arteries and blocks the blood flow to the heart. Arterial plaque consists of multiple substances that circulate in the blood. One of the substances that the study examined is triglyceride.
STUDY SUMMARY
Identification of 28 novel regions associated with thyroid stimulating hormone levels.
61th
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STUDY DESCRIPTION
The thyroid is a butterfly-shaped gland located at the front of the neck. It plays a critical role in controlling the body’s metabolism by regulating how fast we burn calories and many other things. The thyroid itself is controlled by the pituitary gland, which is located in the brain, and releases thyroid stimulating hormone (TSH) that spurs the thyroid into action. TSH levels are commonly used to diagnose a variety of thyroid disorders, including hypothyroidism, hyperthyroidism, and thyroid cancer.
STUDY SUMMARY
Identification of 6 genetic variants that explain variation in wound microbiome diversity, a critical factor in the wound healing process.
60th
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STUDY DESCRIPTION
Normally wounds heal in a matter of weeks or months, often forming scar tissue over the site of injury. Chronic wounds are defined as wounds that fail to show signs of healing after a period of 3 or more weeks. Previous studies have shown that a wound’s successful healing is affected by the microbiome composition of the wound. For example, wounds that are predominantly colonized by only a few microbe species (= low microbiome diversity) appear to heal at a slower rate.
STUDY SUMMARY
Discovery of a novel region of the genome associated with alcohol-related liver cirrhosis.
60th
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STUDY DESCRIPTION
The liver is a large organ that sits on the right side of the abdomen. It filters blood to detoxify chemicals, including drugs and alcohol. After long periods of heavy alcohol use, healthy liver tissue is replaced by scar tissue. Over time, the build-up of scar tissue can impair the functioning of the liver, leading to a condition called cirrhosis. It is estimated that 10-20% of heavy drinkers will develop cirrhosis, which can eventually lead to liver failure.
STUDY SUMMARY
Identification of 12 genetic variants associated with the risk of heart failure.
59th
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STUDY DESCRIPTION
Heart failure is a common condition affecting over 30 million people worldwide. It occurs when the heart is not strong enough to pump blood throughout the body. This typically results in fluid buildup in the body, which “congests” areas like the lungs and ankles. It is estimated that the heritability of heart failure is approximately 26%.
STUDY SUMMARY
Identification of 16 genetic variants associated with the presence of inflammatory proteins in the blood.
59th
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STUDY DESCRIPTION
Inflammation is a response of the immune system to an infection or injury. It is caused by a release of inflammatory proteins that attract immune cells to fight the infection and increase blood flow to promote healing. However, sometimes these inflammation-promoting signals can occur and persist even when they aren’t needed and cause damage to the body.
STUDY SUMMARY
Identification of 10 variants associated with the risk of developing nasal polyps.
58th
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STUDY DESCRIPTION
Nasal polyps are growths that form along the lining of the nasal cavity. While not cancerous, they can eventually cause blockage of the nasal passage leading to breathing problems and a loss of smell. At the time of the publication of this study, no genetic risk factors for nasal polyp were known.
STUDY SUMMARY
Nonsyndromic cleft lip with/without cleft palate is associated with a genetic variant in a long, noncoding region of the genome.
STUDY DESCRIPTION
Nonsyndromic cleft lip with/without cleft palate (NSCL/P) is one of the most common human birth defects. The term nonsyndromic indicates that these defects are not associated with any other abnormalities or symptoms besides those directly caused by a cleft lip or palate (like difficulties eating and speaking clearly). A cleft lip occurs when the tissue that forms the lip does not completely join while a cleft palate is when tissues that form the roof of the mouth do not join together.
STUDY SUMMARY
Thyroid cancer is associated with genetic variants linked to the regulation of telomere length.
57th
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STUDY DESCRIPTION
The thyroid is a gland at the bottom of the neck that produces hormones that regulate blood pressure, weight, and heart rate. Thyroid cancer is known to have one of the strongest genetic components of any cancer.
STUDY SUMMARY
Identification of 71 genetic variants associated with Crohn’s disease.
56th
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STUDY DESCRIPTION
Crohn’s disease is a type of inflammatory bowel disease, a condition characterized by chronic inflammation of the digestive tract. Nearly a million individuals in the United States alone are affected by Crohn’s disease. Typical symptoms are pain, diarrhea and weight loss. To better understand the genetics of Crohn’s disease, this study examined over 40,000 individuals of European descent.
STUDY SUMMARY
Identification of over 100 novel genetic variants correlated with fat build-up around the body’s internal organs.
56th
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STUDY DESCRIPTION
Visceral adipose tissue is a particularly harmful type of fat typically stored around the body’s internal organs. It acts as a source of inflammation for the organs, and it can lead to an increased risk of developing cardiovascular and metabolic diseases, like coronary artery disease and diabetes.
STUDY SUMMARY
Discovery of 3 variants associated with mitochondrial DNA copy number.
56th
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STUDY DESCRIPTION
The mitochondria have been nicknamed “the powerhouse of the cell” because they are responsible for producing up to 90% of a cell’s energy. Though mitochondria are part of a cell, they have their own, small genomes. Different types of cells in the body have different energy requirements, and as a result, have varying numbers of mitochondria inside them. For example, cells that require more energy for their functions, such as muscle cells, generally have more mitochondria.
STUDY SUMMARY
Identification of 7 genetic variants associated with protein consumption.
55th
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STUDY DESCRIPTION
Proteins are essential macronutrients and building blocks of the body. More specifically, proteins are molecular machines that fulfill many functions inside and outside of cells. Proteins are made from 20 building blocks known as amino acids. While our bodies can make 11 of 20 amino acids, the remaining 9 must be consumed through the food we eat. On average, individuals consume approximately 7 grams of protein per 20 pounds of body weight per day. While protein is essential, excess protein consumption can result in metabolic disorders, such as obesity and diabetes.
STUDY SUMMARY
Discovery of 3 genetic variants associated with systemizing, a trait related to autism spectrum disorder.
55th
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STUDY DESCRIPTION
Autism is a developmental disorder that is typically characterized by social, communication, and behavioral challenges. It is known as a “spectrum disorder” because there is much variation in how it manifests in affected individuals. One trait associated with autism is “systemizing”, which describes the tendency of an individual to search for or create structures in the physical environment or mentally.
STUDY SUMMARY
Genetic variants linked to inflammation and programmed cell death may affect the risk for ulcerative colitis.
54th
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STUDY DESCRIPTION
Ulcerative colitis is an inflammatory bowel disease that occurs when sores develop in the colon due to an ongoing inflammation. Symptoms such as diarrhea, abdominal pain, and fatigue typically develop over time. Ulcerative colitis is also known to be heritable, yet the genetic factors underlying this are not well understood.
STUDY SUMMARY
Development of a polygenic risk score for thyroid cancer based on 10 previously identified genetic variants.
54th
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STUDY DESCRIPTION
The thyroid is a butterfly-shaped gland in the front of the neck that produces hormones which control important bodily functions like blood pressure, temperature, and heart rate. Thyroid cancer is more heritable than most other cancer types, and it affects over 50,000 individuals each year in the United States.
STUDY SUMMARY
Identification of 70 genetics variants associated with Ebbinghaus illusion overestimation.
54th
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STUDY DESCRIPTION
Our brain and eyes work together to process visual information about our surroundings. Information, such as the size of faraway objects, is interpreted by the brain by analyzing other visual cues such as the sizes of known objects next to it. However, sometimes the brain’s interpretation may be incorrect which can result in optical illusions. One such optical illusion is known as the Ebbinghaus illusion. When a circle is surrounded by other circles, it may appear larger or smaller than its real size depending on the sizes of the surrounding circles.
STUDY SUMMARY
The same genetic variants are associated with hay fever and asthma.
54th
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STUDY DESCRIPTION
Asthma is a condition in which your airways produce extra mucus and constrict, making it difficult to breathe. Hay fever is also known as seasonal allergies. Common symptoms include watery eyes, sneezing, and a runny nose. Previous studies have determined that asthma is often associated with hay fever.
STUDY SUMMARY
Identification of a novel genetic locus associated with risk of developing type 2 diabetes.
53th
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STUDY DESCRIPTION
Glucose, also known as blood sugar, is found in many common foods. Insulin, a hormone produced by the pancreas, helps the cells of the body to intake glucose from the blood and utilize it as a source of energy. Type 2 diabetes occurs when the pancreas does not produce enough insulin, or the cells of the body do not respond to insulin. This results in high blood sugar levels that can cause damage to the nerves, blood vessels, kidneys, and other organs. While environmental factors, in particular diet, are risk factors for type 2 diabetes, a susceptibility can also be inherited.
STUDY SUMMARY
Identification of 4 genetic regions associated with neck or shoulder pain.
53th
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STUDY DESCRIPTION
Pain in the neck and shoulder area is incredibly common, particularly among older adults. Because injury in the neck can lead to shoulder pain and vice versa, neck and shoulder pain are typically discussed together. This study aimed to discover the genetic basis of neck or shoulder pain. Using the genomes of ~200,000 individuals of European descent, the study identified 4 genetic regions significantly associated with neck or shoulder pain.
STUDY SUMMARY
This report is based on a study that discovered 21 genetic variants associated with osmotic hemolysis, which causes the destruction of red blood cells.
52th
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STUDY DESCRIPTION
Blood plays an extremely important role in providing oxygen and nutrients to all parts of the body. Whether due to trauma or disease, occasionally blood needs to be transferred from one individual to another. This procedure, known as a transfusion. Often, the donated blood must spend time in storage before being transfused, and the transfusion process itself may take in excess many hours. As a result, the red blood cells can get damaged during storage or transfusion. To identify genetic factors that may contribute to damage of red blood cells, this study examined genetic data of over 12,000 individuals of European, African, Asian, and Hispanic ancestries.
STUDY SUMMARY
Identification of 9 genetic variants associated with re-experiencing, a symptom of post-traumatic stress disorder.
51th
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STUDY DESCRIPTION
Post-traumatic stress disorder (PTSD) is a mental health condition caused by experiencing a traumatic event. Though many people associate PTSD with war veterans, anyone can experience the disorder. Common symptoms of PTSD include flashbacks and nightmares related to the traumatic event, avoidance of particular situations, and being easily startled. Flashbacks and nightmares are collectively referred to as “re-experiencing”.
STUDY SUMMARY
This report is based on a study that discovered 78 genetic variants associated with testicular germ cell tumors.
51th
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STUDY DESCRIPTION
The testicles are two small, egg-shaped glands located close to the penis. Testicles contain many specialized types of cells, such as germ cells, that contribute to the production of sperm. While testicular cancer is relatively uncommon, affecting up to 90,000 men per year in the US, it is the most common cancer in men younger than 35. Overall, about 95 percent of testicular cancers begin in the sperm-producing germ cells. To better understand genetic factors that contribute to an individual’s risk of testicular germ cell tumors (TGCT), this study examined nearly 190,000 men of European ancestry.
STUDY SUMMARY
Identification of 58 genetic variants associated with the blood level of C-reactive protein, a marker of inflammation.
51th
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STUDY DESCRIPTION
Inflammation is a defense mechanism our body induces as a response to infections. However, chronic inflammation has been associated with many diseases including type 2 diabetes and cardiovascular disease. Inflammation can be assessed by measuring the level of C-reactive protein (CRP) in the blood which are typically increased if there is inflammation in the body.
STUDY SUMMARY
Discovery of 4 genetic variants associated with the levels of IL18 cytokine in the blood, a marker of inflammation.
50th
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STUDY DESCRIPTION
Inflammation is a defense response formed by the body’s immune system in response to injury or illness, but can also be initiated due to stress and environmental factors. While acute inflammation generally helps repair damage in the body, chronic inflammation can cause a host of issues such as arthritis, heart disease, and dementia. One group of proteins particularly important for the inflammatory process are known as cytokines. Cytokines circulate in the blood and help coordinate the immune system response.
STUDY SUMMARY
Prostate cancer may be linked to variants in the MLPH gene and genes that encode proteins of cytoplasmic filaments.
49th
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STUDY DESCRIPTION
Prostate cancer is the most common cancer among men after skin cancer. It occurs in the prostate - a gland in males that produces the seminal fluid. To identify novel genetic variants associated with prostate cancer, this study examined the genomes of 7,240 individuals.
STUDY SUMMARY
Identification of novel genetic variants associated with same-sex sexual behavior.
STUDY DESCRIPTION
An estimated 2 to 10% of the human population engages in same-sex sexual behavior. While the full spectrum of factors that determine sexual preferences is unknown, some genetic influences exists.
STUDY SUMMARY
This report is based on a study that discovered 64 genetic variants associated with intracranial volume.
49th
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STUDY DESCRIPTION
Intracranial volume is the measure of the size of the brain and its protective layers in the skull. The average intracranial volume is 1.6 liters for males, and 1.4 liters for females. Interestingly, various diseases have been associated with changes in intracranial volume. These include ADHD, which has been associated with a reduced intracranial volume, and Parkinson’s disease, which is associated with increased intracranial volume. To identify genetic variants associated with intracranial volume, this study examined over 79,000 individuals of European ancestry.
STUDY SUMMARY
Discovery of 11 genomic regions associated with periventricular white matter hyperintensities that indicate brain lesions.
48th
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STUDY DESCRIPTION
The brain is a delicate organ that requires constant blood flow. Strokes occur when a large part of the brain is no longer supplied with blood due to a major clot or a bleed - this leads to obvious brain damage. However smaller clots or bleeds might kill or damage brain cells, possibly causing dementia or movement issues. These might go undetected until the patient gets a brain scan: the damage shows up as a brighter white spot, called a hyperintensity.
STUDY SUMMARY
Identification of 149 genetic variants associated with income.
48th
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STUDY DESCRIPTION
Socioeconomic position (SEP) is a measure of an individual’s economic and social position. Poor health is associated with a decreased SEP, but the genetic contributions to this effect are not well studied.
STUDY SUMMARY
Discovery of multiple genetic variants associated with Tourette’s Syndrome.
48th
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STUDY DESCRIPTION
Tourette’s syndrome is a disorder of the nervous system characterized by uncontrollable movements or sounds that are known as tics. It affects about 1 out of every 150 people to varying degrees. Tourette’s syndrome is known to be highly heritable, with up to 80% of the disease risk being inherited from the parents. This genome-wide association study sought to identify genetic variants associated with Tourette’s Syndrome by examining over 20,000 individuals of European ancestry.
STUDY SUMMARY
Discovery of novel genetic variants associated with luminal B/HER2-negative-like breast cancer.
48th
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STUDY DESCRIPTION
Among women, breast cancer is the second most common type of cancer. In fact, about 13% of women in the United States develop breast cancer during their lifetime. Breast cancer types can be classified by tumor markers, such as the receptors found on the surface of cancer cells. Luminal B/HER2-negative-like breast cancer is a type of breast cancer characterized by cancerous cells originating in the inner, or luminal, cells that line the mammary ducts.
STUDY SUMMARY
This report is based on a study that discovered 34 novel genetic variants associated with rheumatoid arthritis.
48th
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STUDY DESCRIPTION
Rheumatoid arthritis (RA) describes a condition where the immune system mistakenly attacks the body’s joints, producing inflammation and swelling. This can lead to immense pain and stiffness that makes it difficult to move. An estimated 2% of people will develop rheumatoid arthritis during their life, with women twice more often affected than men. While factors such as smoking and pollution have been linked to RA, genetic factors also contribute to an individual’s susceptibility to developing the condition.
STUDY SUMMARY
Discovery of novel genetic variants associated with triple-negative breast cancer.
48th
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STUDY DESCRIPTION
Breasts are complex structures with multiple cell types which can give rise to multiple types of cancer. Breast cancers are classified by what receptors cancer cells have on the outside. This classification is helpful for predicting outcomes and effective treatments. Triple-negative breast cancer is any type of breast cancer that has neither the estrogen receptor, progesterone receptor, nor human epidermal growth factor 2 (HER2) receptor. Triple-negative breast cancers are still fairly heterogeneous, with some subtypes being more aggressive than others. 15-20% of all breast cancer cases are triple-negative breast cancers.
STUDY SUMMARY
Identification of 4 genetic variants associated with driving for leisure.
47th
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STUDY DESCRIPTION
Leisure sedentary behaviors, like watching Netflix and playing Animal Crossing, sure can be fun! In fact, the average adult in the United Kingdom spends an average of 5 hours per day on activities like this. However, research suggests that long periods of sedentary behaviors could increase an individual's risk for conditions like coronary artery disease.
STUDY SUMMARY
Identification of 2 genetic variants associated with an increased risk of severe acute respiratory syndrome (SARS) coronavirus infection.
STUDY DESCRIPTION
Severe acute respiratory syndrome (SARS) coronavirus emerged in 2003 in China. During that year, more than 8000 infections across 26 countries were reported. SARS symptoms are flu-like and include fever and a dry cough. Severe cases are common and result in a ~ 10% mortality rate. This study examined the genetic data of nearly 1000 individuals of Chinese ancestry who were diagnosed with SARS.
STUDY SUMMARY
Identification of 30 novel genetic variants linked with the development of varicose veins.
47th
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STUDY DESCRIPTION
Varicose veins are a condition characterized by swollen and twisted veins that occurs when blood pools, typically in the legs. Though varicose veins are sometimes considered a cosmetic concern, they can also increase the risk of blood clots.
STUDY SUMMARY
Identification of 63 genetic variants associated with a plant and fish-based diet.
47th
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STUDY DESCRIPTION
Schizophrenia is a chronic brain disorder that affects how a person thinks, feels, and behaves. It affects about 1% of the population. While the development of schizophrenia is driven by genetics, environmental factors, such as diet, are also thought to play a role as weight gain and obesity are common in schizophrenia patients. Therefore, to determine the genetic basis of diet and whether there is a link between diet and schizophrenia risk, researchers examined the genomes of over 335,000 individuals of European ancestry.
STUDY SUMMARY
Discovery of novel genetic variants associated with luminal B-like breast cancer.
46th
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STUDY DESCRIPTION
Breasts are complex structures with multiple cell types which can give rise to multiple types of cancer. Breast cancers are classified by what receptors cancer cells have on the outside. This classification is helpful for predicting outcomes and effective treatments. Luminal B-like cancers have hormone receptors (progesterone, estrogen, or both) as well as human epidermal growth factor 2 (HER2) receptors. These receptors enable cancer cells to grow in response to growth signals.
STUDY SUMMARY
Discovery of novel genetic variants associated with luminal A-like breast cancer.
46th
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STUDY DESCRIPTION
Among women, breast cancer is the second most common type of cancer. In fact, about 13% of women in the United States develop breast cancer during their lifetime. Breast cancer types can be classified by tumor markers, such as the receptors found on the surface of cancer cells. Luminal A-like is a subtype of breast cancer with the best prognosis, and it accounts for 30-45% breast cancer cases. It is characterized by cancerous cells originating in the inner, or luminal, cells that line the mammary ducts.
STUDY SUMMARY
Novel method for multivariate traits identifies 304 genetic variants associated with well-being.
46th
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STUDY DESCRIPTION
Our well-being is a multivariate trait typically characterized by high life-satisfaction, positive affect, and absence of neuroticism as well as depressive symptoms. Determining genetic predispositions to our well-being can be difficult since a complex array of genetic variants contribute.
STUDY SUMMARY
An increased risk of obesity is associated with genetic variants in the KCNMA1 and BDNF genes.
STUDY DESCRIPTION
Obesity is defined as having an excess of body fat and is the sixth most important risk factor contributing to all diseases worldwide. In order to better understand the heritable component of obesity, this study performed a genome-wide study.
STUDY SUMMARY
Discovery of 3 novel regions of the genome associated with male breast cancer.
46th
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STUDY DESCRIPTION
Breast cancer is a disease where cells in the breast grow out of control. Though breast cancer is commonly considered a disease that only affects females, males can also be diagnosed with breast cancer. In all, roughly 1 in 800 males will be diagnosed with breast cancer during their life. While many aspects of female and male breast cancer are similar, it is not well understood whether both types of breast cancer share the same genetic risk factors.
STUDY SUMMARY
Identification of 3 genetic variants associated with Kawasaki disease, which causes inflammation and swelling of blood vessels.
45th
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STUDY DESCRIPTION
Kawasaki disease is characterized by sudden inflammation and swelling of blood vessels throughout the body that typically persists for several days. It primarily affects children under the age of 5, but cases of Kawasaki disease in adults have also been described. A typical symptom of Kawasaki disease is redness that affects various parts of the body including eyes, tongue, and skin.
STUDY SUMMARY
Chronic kidney disease is linked to genetic variants that influence serum creatinine and cystatin C - two of the main biomarkers of kidney function.
45th
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STUDY DESCRIPTION
Chronic kidney disease is a permanent loss of kidney function over time. This study examined the genomes of 23,812 people of European ancestry to identify genetic variants that are associated with an increased risk of chronic kidney disease.
STUDY SUMMARY
Identification of 127 genetic variants associated with primary open-angle glaucoma, a leading cause of blindness.
44th
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STUDY DESCRIPTION
Visual information is relayed from the eyes to the brain through a communication line known as the optic nerve. Glaucoma describes a group of eye conditions where the optic nerve becomes damaged, which leads to progressive vision loss and eventually complete blindness. This study sought to discover genetic variants associated with primary open-angle glaucoma (POAG), a highly heritable glaucoma subtype.
STUDY SUMMARY
Identification of 203 generic variants associated with corneal hysteresis, a measure of the “shock-absorbing” ability of the cornea.
44th
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STUDY DESCRIPTION
The cornea is a dome-shaped “window” covering the front part of the eye. It serves to both protect the eye and focus light to help us see. Damage to the cornea can be detrimental to eyesight, so doctors commonly use a number of metrics to measure the cornea’s health. One metric is corneal hysteresis, which is a measure of the “shock-absorbing” ability of the cornea. Decreased corneal hysteresis has previously been connected to glaucoma and other disorders of the eye.
STUDY SUMMARY
Migraine without aura may be influenced by genetic variants that affect neuronal signaling, migration, and growth.
44th
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STUDY DESCRIPTION
Migraine without aura, also called the common migraine, is characterized by recurring, painful headaches. It does not have the early symptoms (aura) that other types of migraines have, such as dizziness, prickling skin, or weakness. Migraines appear to be heritable, yet few genetic variants have been discovered.
STUDY SUMMARY
Development of a genetic risk score to predict the risk of systemic lupus erythematosus (SLE).
43th
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STUDY DESCRIPTION
Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by widespread inflammation and tissue damage. More than 200,000 new SLE cases are diagnosed in the United States every year. About one half of SLE patients experience kidney disease, which is the one of the most common causes of death in SLE patients.
STUDY SUMMARY
Identification of a genomic region associated with susceptibility to developing podoconiosis.
STUDY DESCRIPTION
Podoconiosis is a disease that many people may have never heard of, yet in some communities across the globe, nearly 1 in 20 individuals are affected. The disease predominantly affects farmers and people that walk barefoot on red-clay soil formed from volcanic rock that is found in tropical Africa, Central and South America, and north India. Scientists think that red-clay soil contains large amounts of minerals which are absorbed through the skin of the feet. This induces a reaction of the immune system that leads to the characteristic swelling of the feet.
STUDY SUMMARY
Identification of 42 genetic regions associated with snoring.
43th
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STUDY DESCRIPTION
Snoring may disrupt your or your partner’s sleep. It is incredibly common and affects more men (35-45%) than women (15-28%). Moreover, snoring may be a sign of a more serious condition known as obstructive sleep apnea, which is characterized by pauses in breathing due to blocked upper airways which decreases the amount of oxygen in the blood.
STUDY SUMMARY
Discovery of 7 locations in the genome that are associated with ambidexterity, the ability to use both hands equally well.
42th
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STUDY DESCRIPTION
The majority of people have one dominant hand for performing activities such as writing. Normally, the non-dominant hand cannot be used effectively for performing these tasks without significant training. However, roughly 1% of individuals are ambidextrous, meaning they can make use of both hands effectively. This genome-wide association study aimed to identify genetic variants associated with ambidexterity.
STUDY SUMMARY
Identification of novel genetic variants linked to cerebral small vessel disease, which can cause a variety of cognitive symptoms.
42th
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STUDY DESCRIPTION
Cerebral small vessel disease (CSVD) describes a variety of conditions related to abnormalities or damage to small blood vessels within the brain. Some of the most common conditions are small vessel ischaemic strokes, a result of hardened blood vessels, and intracerebral hemorrhage, which occurs when blood vessels in the brain burst. CSVD generally results in cognitive decline, movement disorders, and can lead to depression. Few genetic variants that correlate with the development of CSVD have been found.
STUDY SUMMARY
Identification of 15 genetic variants associated with hyperarousal, a symptom of post-traumatic stress disorder.
41th
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STUDY DESCRIPTION
Post-traumatic stress disorder (PTSD) is a mental health condition caused by experiencing a traumatic event. Though many people associate PTSD with war veterans, anyone can experience the disorder. Common symptoms of PTSD include flashbacks and nightmares related to the traumatic event, avoidance of particular situations, and being easily startled. Being easily startled, and feeling tense in general, are collectively known as “hyperarousal”.
STUDY SUMMARY
Identification of a novel genetic variant that is associated with prolonged gestational duration (pregnancy).
STUDY DESCRIPTION
Gestation, the period of time that a baby develops in the womb, takes 40 weeks on average. Significant health complications for both baby and mother can occur if the birth is premature (preterm) or delayed (postterm). While previous studies have examined the influence of the mother’s genetics on gestational duration, none have studied the contribution of the fetus’ genetics.
STUDY SUMMARY
Identification of 7 novel genetic variants that may confer an increased risk of developing rheumatoid arthritis.
40th
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STUDY DESCRIPTION
Rheumatoid arthritis is caused by the body’s own immune system mistakenly attacking joints which causes damage and swelling. This restricts and makes movement painful. To better understand genetic risk factors for developing rheumatoid arthritis, this genome-wide association study examined over 25,000 individuals of European ancestry.
STUDY SUMMARY
Identification of 5 novel variants associated with idiopathic pulmonary fibrosis.
39th
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STUDY DESCRIPTION
Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease that is characterized by scarring of lungs which makes it hard to breathe. Over 15,000 new cases of IPF are reported yearly in the United States, however, the cause of IPF is not known and there is also no cure. This study sought to identify genetic factors that contribute to the risk of developing IPF.
STUDY SUMMARY
Identification of 116 genetic variants associated with neuroticism.
39th
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STUDY DESCRIPTION
Neuroticism is a personality trait characterized by negative emotionality (e.g. anger, guilt, anxiety) and associated with poorer mental and physical health. Though neuroticism is known to be highly heritable, most genetic factors remain unknown.
STUDY SUMMARY
Discovery of 6 genetic variants associated with the development of gambling disorders.
39th
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STUDY DESCRIPTION
When most people think of gambling, they typically think of casinos or lottery tickets. But, gambling comes in many more forms. Even activities such as playing bingo can be considered forms of gambling. While gambling is common, gambling disorders can affect an individual’s life and well-being. Signs of gambling disorders include needing to bet increasing amounts of money to feel excited, being unable to quit, and jeopardizing work or relationships because of gambling.
STUDY SUMMARY
Identification of 2 novel genetic variants associated with lymphoma found in the nose.
STUDY DESCRIPTION
Extranodal natural killer T-cell lymphoma (NKTCL) is an aggressive blood cancer that grows outside of the lymphatic system, usually in the nose. While NKTCL is rare in European populations, it is common in individuals of Asian and South American ancestry. Infection with Epstein-Barr virus, has been previously linked to the development of NKTCL. Other evidence suggests that genetic variants within a gene responsible for immune system regulation also contribute to the development of NKTCL. Researchers that conducted this study sought to identify novel genetic variants associated with NKTCL.
STUDY SUMMARY
Dysregulation of the TGFβ signaling pathway may increase susceptibility to acne.
38th
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STUDY DESCRIPTION
Acne is an inflammatory disease of the skin in which hair follicles become clogged with oil and dead skin cells. Acne is about 80% heritable. This genome-wide association study included 1,893 patients with severe acne and 5,132 healthy individuals from the United Kingdom.
STUDY SUMMARY
Identification of over 250 genetic loci associated with cortical surface area.
38th
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STUDY DESCRIPTION
The cerebral cortex is the outer layer of the brain that is responsible for cognitive tasks such as perception, thought and memory. It is characterized by folds that increase its surface area. To identify genetic variants associated with human cortical surface area, this study combined genetic data with brain imaging data from over 50,000 individuals.
STUDY SUMMARY
Identification of 44 genetic variants associated with age-related hearing impairment.
37th
PERCENTILE
STUDY DESCRIPTION
Hearing loss is one of the most common age-associated medical conditions. It has been associated with social isolation, depression, and can be a risk factor for dementia. Though believed to be highly heritable, the genetic factors associated with a predisposition to age-related hearing impairment (ARHI) remain largely unknown.
STUDY SUMMARY
Identification of 269 genetic variants associated with prostate cancer risk.
37th
PERCENTILE
STUDY DESCRIPTION
The prostate is a gland slightly smaller than the size of a golf ball that sits below the bladder in males. It produces and releases fluids that help nourish and protect sperm cells. Prostate cancer occurs when the cells of the prostate gland start to grow out of control. Prostate cancer affects roughly 1 in 8 males, making it one of the most common forms of cancer in men. Prostate cancer is also highly heritable, with up to 57% of an individual’s risk thought to be due to genetics.
STUDY SUMMARY
Identification of 16 genomic regions associated with alopecia areata, an autoimmune disease that causes hair loss.
36th
PERCENTILE
STUDY DESCRIPTION
Alopecia areata occurs when the immune system attacks hair follicles, resulting in hair loss. Alopecia areata affects over 6.8 million people in the United States. The genetic basis of alopecia areata remains largely unknown. By examining the genomes of 4,332 individuals, this study identified 16 independent genetic variants that are associated with alopecia areata.
STUDY SUMMARY
This report is based on a study that discovered 8 novel genetic variants associated with asthma-COPD overlap syndrome.
35th
PERCENTILE
STUDY DESCRIPTION
Asthma is a long-term disease of the lungs. It causes the airways to get inflamed and narrow, which makes it hard to breathe. Chronic obstructive pulmonary disease (COPD) describes a collection of lung diseases that cause breathing problems due to an obstructed airflow. Most people with asthma will not develop COPD, and many people with COPD don’t experience asthma. However, some people are susceptible to developing both diseases at once. This condition, known as asthma-COPD overlap syndrome, can seriously affect an individual's ability to breathe, with symptoms worse than either asthma or COPD alone.
STUDY SUMMARY
Identification of 3 genomic regions associated with long QT syndrome.
35th
PERCENTILE
STUDY DESCRIPTION
The heartbeat is controlled by electrical impulses which normally pause between beats. During that pause, the heart muscles recharge for the next beat. If this recharge takes too long, an electrocardiogram will show a long QT interval. People with long QT intervals can be affected by a fast and chaotic heartbeat which may cause fainting, seizures, and even death.
STUDY SUMMARY
This report is based on a study that discovered 57 genetic variants associated with primary biliary cholangitis, a chronic disease of the liver.
35th
PERCENTILE
STUDY DESCRIPTION
The liver is a large, football-shaped organ that sits on the right side of the abdomen. It performs many functions for the body, including removing toxins from the blood, assisting in digestion, and processing blood sugar. Primary biliary cholangitis (PBC) is an autoimmune disease that causes progressive destruction of the bile ducts of the liver. This leads to the accumulation of bile in the liver which results in further liver damage. Symptoms include abdominal pain, fatigue, and skin yellowing. This study sought to identify genetic variants associated with the risk of PBC by examining genetic data of over 30,000 individuals of European and East Asian ancestry.
STUDY SUMMARY
Identification of 440 genetic variants associated with the apolipoprotein A-1 level in the blood and analysis of its contribution to the risk of coronary heart disease.
35th
PERCENTILE
STUDY DESCRIPTION
Coronary heart disease (CHD) is a condition that develops when the heart's arteries cannot supply enough oxygen to the heart muscle. Coronary heart disease is the leading cause of death in the United States. It occurs when plaque builds up in the heart's arteries and blocks the blood flow to the heart. Arterial plaque consists of multiple substances that circulate in the blood, in particular fats and cholesterol. Fats and cholesterol cannot travel around the bloodstream on their own and instead must be transported by proteins called “apolipoproteins”. The apolipoprotein responsible for transporting HDL cholesterol, or the “good” cholesterol, in the blood is known as apolipoprotein A-1 (apoA1).
STUDY SUMMARY
Identification of over 40 new genetic variants associated with central corneal thickness, which is linked to multiple disorders of the eye.
35th
PERCENTILE
STUDY DESCRIPTION
The cornea acts like a “window” for the eye, allowing light to enter while also serving as a barrier against foreign irritants. The thickness of the cornea is a well-studied indicator of eye health, and reduced thickness has been linked to diseases of the eye such as glaucoma. This genome-wide association study aimed to identify genomic regions linked to the thickness at the center of the cornea.
STUDY SUMMARY
Identification of 15 genetic variants correlated to the consumption of coffee.
34th
PERCENTILE
STUDY DESCRIPTION
There’s no denying that coffee helps to power our society! In fact, Americans drink nearly 400 million cups of it daily. While coffee helps us stay productive throughout the day, the opinions about its taste vary. While some need to cover the taste of coffee with milk and sugar to find it palatable, others enjoy the taste of a black cup of joe. Taste perception, such as bitterness and sweetness, and taste preference is known to be heritable.
STUDY SUMMARY
Discovery of 568 novel genomic regions associated with type 2 diabetes in a multi-ethnic study.
34th
PERCENTILE
STUDY DESCRIPTION
Insulin is a hormone that promotes cells to intake sugar from the blood. People with type 2 diabetes no longer respond to insulin, meaning sugar has a hard time getting into cells and builds up in the blood. This study looked at the genetics of type 2 diabetes in 228,499 cases and 1,178.783 controls that included Europeans, African Americans, Hispanics, South Asians, and East Asians.
STUDY SUMMARY
This report is based on a study that discovered 5 genetic variants associated with Lewy body dementia.
34th
PERCENTILE
STUDY DESCRIPTION
Dementia is a term used to describe a collection of symptoms related to cognitive decline. These symptoms typically impair thinking, memory, and communication. Lewy body dementia (LBD) is the third most common cause of dementia, following Alzheimer’s disease and vascular dementia. LBD is characterized by the formation of clumps of proteins known as Lewy bodies in the brain. While scientists aren’t sure what leads to the formation of Lewy bodies, genetics may confer an increased risk.
STUDY SUMMARY
Discovery of 10 variants associated with sugar consumption.
33th
PERCENTILE
STUDY DESCRIPTION
Sugar can be found in many foods and drinks we consume every day. Some foods, like fruits, contain natural sugars. On the other hand, sugars are also commonly added to foods such as pastries and soft drinks. The average American consumes 22 teaspoons (88 grams) of added sugar per day, while nutritionists recommend no more than 9 teaspoons (36 grams) per day. Too much sugar in the diet can lead to an increased risk of diabetes, tooth decay, and other diseases. To identify genetic variants that may affect the amount of sugar an individual consumes, this study examined the genomes of over 260,000 individuals of European ancestry.
STUDY SUMMARY
Identification of 7 genomic regions associated with Sjögren's syndrome risk.
33th
PERCENTILE
STUDY DESCRIPTION
Sjögren's syndrome is an autoimmune disorder characterized by dry eyes and dry mouth. It occurs when the body’s immune system mistakenly attacks glands, like those that produce saliva and tears. As a result, these glands become inflamed and damaged. Up to 3 million individuals in the United States alone may be affected by Sjögren's syndrome. While Sjögren's syndrome can affect individuals at any age, it is most commonly diagnosed in older women. To better understand the genetics that may predispose a person to Sjögren's syndrome, this genome-wide association study examined nearly 8,400 individuals of European descent.
STUDY SUMMARY
Identification of 23 genetic variants associated with total brain volume.
33th
PERCENTILE
STUDY DESCRIPTION
Differences in brain volume among people appear to be connected with differences in numerous cognitive and behavioral traits, including intelligence and emotional processing. Furthermore, genes involved in determining brain volume have been linked to diseases such as schizophrenia and bipolar disorder.
STUDY SUMMARY
Identification of 2 genomic regions associated with risk for severe aplastic anemia.
STUDY DESCRIPTION
Aplastic anemia is an autoimmune disease in which the bone marrow does not produce enough blood cells. In severe cases aplastic anemia can become life-threatening. This genome-wide association study sought to identify variants associated with risk of severe aplastic anemia by examining genetic information of nearly 3,000 individuals of European descent.
STUDY SUMMARY
This report is based on a study that discovered 5 genetic variants associated with trigger finger.
32th
PERCENTILE
STUDY DESCRIPTION
A tendon is a cord of strong, flexible tissue, similar to a rope that connects your muscles to your bones. Trigger finger is a condition that can affect the tendons of the hand, causing pain, stiffness, and a sensation of locking or catching when you bend or straighten your finger. An estimated 2-10% of people will experience trigger finger during their life. In individuals living with conditions such as rheumatoid arthritis, the rate is much higher.
STUDY SUMMARY
This study identified hundreds of new genetic variants associated with risky behavior in genes, most of which are highly expressed in the brain.
32th
PERCENTILE
STUDY DESCRIPTION
Risk tolerance varies widely within the human population. Although it is known to be a moderately heritable trait, few genetic variants that correlate with this tolerance have been identified.
STUDY SUMMARY
Identification of 14 new genetic variants associated with brain volume.
31th
PERCENTILE
STUDY DESCRIPTION
Differences in brain volume among individuals appear to be connected with differences in numerous cognitive and behavioral traits, including intelligence and emotional processing. Furthermore, genes involved in determining brain volume have been linked to diseases such as schizophrenia and bipolar disorder.
STUDY SUMMARY
This report is based on a study that discovered 69 genetic variants associated with musical beat synchronization.
31th
PERCENTILE
STUDY DESCRIPTION
Music is an integral part of many cultures across the world. One feature of music that is present across cultures is the “beat”, which is the rhythmic measure that helps to structure music. When listening to music, many people clap or tap along to the beat, but the ability to keep up with the beat varies widely. This genome-wide association study sought to identify genetic variants that affect an individual’s ability to keep a beat by examining more than 600,000 individuals of European ancestry.
STUDY SUMMARY
Discovery of genetic variants in the KIF5A gene that are associated with amyotrophic lateral sclerosis (ALS).
31th
PERCENTILE
STUDY DESCRIPTION
Amyotrophic lateral sclerosis, or ALS, is a progressive degeneration of nerve cells that control muscle movements which results in worsening weakness. ALS patients lose the ability to walk, use their hands, speak, swallow, and eventually breathe.
STUDY SUMMARY
This report is based on a study that discovered 42 genetic variants associated with dyslexia.
30th
PERCENTILE
STUDY DESCRIPTION
Dyslexia is a type of learning disorder that affects how the brain processes words and numbers, resulting in difficulty reading or spelling. As a result, many children with dyslexia read at lower difficulty levels compared to their peers, though the condition has no effect on intelligence. The disorder was found to be inherited in some families, suggesting that genetics likely contributes to an individual’s susceptibility to developing dyslexia. This genome-wide association study sought to identify genetic factors associated with dyslexia by examining nearly 1,140,000 individuals of European or Chinese ancestry.
STUDY SUMMARY
Identification of 3 genetic variants associated with Brugada syndrome, a rare heart disorder.
30th
PERCENTILE
STUDY DESCRIPTION
A healthy heart pumps blood with a regular rhythm that forms our “heartbeat”. This rhythm allows blood to flow into the heart before being successfully pumped back out into the body. When the heart has an abnormal rhythm, known as arrhythmia, the heart does not pump blood as effectively which can impair the blood and oxygen supply of the body. Brugada syndrome, is a type of arrhythmia that can lead to fainting, difficulty breathing, and sudden death.
STUDY SUMMARY
Genetic variants near the TGFβ2 gene may increase the risk of emphysema by elevating TGFβ2 expression in lung fibroblasts.
30th
PERCENTILE
STUDY DESCRIPTION
Emphysema is one of the main types of chronic obstructive pulmonary disease (COPD) that occurs when the air sacs in the lungs are damaged. This makes it difficult to breath and most individuals with emphysema develop a chronic cough. Although smoking is the most common cause of emphysema, air pollution, certain chemical fumes, and genetics are also risk factors.
STUDY SUMMARY
12 novel loci have been associated with ADHD in a genome-wide association study of 55,374 individuals.
30th
PERCENTILE
STUDY DESCRIPTION
Attention-deficit/hyperactivity Disorder (ADHD) is a common behavioral disorder that typically affects a person’s ability to pay attention and control impulsive behaviors. The risk of ADHD is determined by a variety of different genetic and environmental influences.
STUDY SUMMARY
This report is based on a study that identified 115 genetic variants associated with eye color.
29th
PERCENTILE
STUDY DESCRIPTION
Much like a fingerprint, an individual’s exact eye color is unique to them. To better understand the genetics that determine eye color, this genome-wide association study looked at nearly 200,000 individuals of European and Asian ancestry. The scientists identified 115 genetic variants associated with eye color, many of which are novel and have not been previously connected to pigmentation.
STUDY SUMMARY
Discovery of 13 novel genetic variants associated with the development of systemic sclerosis.
29th
PERCENTILE
STUDY DESCRIPTION
Normally, the immune system works to protect the body against foreign invaders such as bacteria and viruses. Autoimmune diseases occur when the immune system mistakenly attacks the body’s own cells and organs. One of the most debilitating autoimmune diseases is systemic sclerosis, which causes scarring of the skin and internal organs. Over time, this scarring slowly limits the organs’ ability to function, and is particularly detrimental to the lungs and the blood vessels.
STUDY SUMMARY
Identification of 32 novel genetic variants associated with high blood pressure.
28th
PERCENTILE
STUDY DESCRIPTION
High blood pressure contributes to many diseases, especially cardiovascular conditions such as heart attack and stroke. Genetic factors are thought to play a role in determining a person's risk of developing high blood pressure.
STUDY SUMMARY
Identification of 46 genetic variants associated with mosaic loss of chromosome Y.
27th
PERCENTILE
STUDY DESCRIPTION
Cells in the human body store genetic information in 23 pairs of chromosomes. Mosaic loss of chromosome Y (mLOY) is a male-specific condition characterized by the loss of chromosome Y by some cells. mLOY has been linked to various medical conditions, including cancer, and is most commonly observed in the white blood cells of ageing men.
STUDY SUMMARY
Identification of 132 regions of the genome associated with systemic lupus erythematosus.
26th
PERCENTILE
STUDY DESCRIPTION
Systemic lupus erythematosus (SLE) is an autoimmune disorder. This means that it is caused by the body’s immune system mistakenly attacking organs and tissues. Individuals with SLE may experience joint pain, fatigue, fever, and numerous other symptoms. Genetic factors play a key role in the disease, with estimates of its heritability ranging from 43% to 66%.
STUDY SUMMARY
Discovery of 5 genetic variants associated with thinness.
26th
PERCENTILE
STUDY DESCRIPTION
Although diet and exercise are important for maintaining healthy body weight, individuals who eat similar foods and exercise similar amounts can differ in their weight. Most studies that look for genetic variants associated with the body mass index (BMI) compare obese individuals to healthy controls. This study instead looked for associations with thinness.
STUDY SUMMARY
Identification of 155 genetic variants correlated with lung function.
26th
PERCENTILE
STUDY DESCRIPTION
Proper lung function is critical for providing oxygen to the cell in our bodies. It can be assessed by measuring various parameters. One parameter of lung function is the maximum air volume that can be expired after a deep breath, also known as the forced vital capacity (FVC). Another parameter is the air volume that can be expired in the first second of expiration, known as the forced expiratory volume in 1 second (FEV1). A low FEV1/FVC ratio is an indicator for chronic obstructive pulmonary disease (COPD).
STUDY SUMMARY
Discovery of 36 genomic regions associated with using a computer for leisure.
25th
PERCENTILE
STUDY DESCRIPTION
From playing games to binge-watching the latest show to reading the latest entries in the Nebula Research Library, computers can be a great way to spend leisure time. In fact, the average American spends roughly 90 minutes per day using a computer for leisure! To find genetic markers associated with a propensity to use a computer for leisure, this genome-wide association study examined the genetic data of over 420,000 individuals of European descent.
STUDY SUMMARY
Identification of 2 genomic regions associated with the number of moles on the body.
STUDY DESCRIPTION
Moles are pigmented skin lesions, usually developing during adulthood in sun-exposed areas of the skin. In most cases, moles are benign and don’t require treatment. However, sometimes they turn into skin cancer. The count of moles on the body is the strongest known risk factor for melanoma, a type of cancer that develops from pigment-producing cells.
STUDY SUMMARY
The risk of peripheral artery disease is increased by genetic variants associated with LDL cholesterol levels.
25th
PERCENTILE
STUDY DESCRIPTION
Peripheral artery disease (PAD) is the narrowing of the arteries in the legs, stomach, arms, or head. It is generally caused by the buildup of plaque (from fats, cholesterol, or other substances) in the arteries and can lead to a heart attack or stroke. A predisposition to peripheral artery disease is known to be influenced by genetics, but few variants have been identified.
STUDY SUMMARY
Identification of 147 novel genetic variants associated with gout development.
23th
PERCENTILE
STUDY DESCRIPTION
Uric acid is a waste product that is produced as the body digests some foods. Normally, uric acid travels through the blood until it gets filtered out by the kidneys, ultimately getting excreted in urine. When the body does not efficiently process uric acid, it can accumulate in joints and kidneys causing gout and kidney stones. A person’s risk of uric acid accumulation is known to be heritable, yet few genetic loci have been found.
STUDY SUMMARY
Discovery of 53 novel schizophrenia-associated genetic loci in East Asian and European populations.
22th
PERCENTILE
STUDY DESCRIPTION
Schizophrenia is a mental disorder that affects how an individual perceives and interacts with reality. It is characterized by hallucinations, delusions, as well as abnormal thinking and behavior that impairs daily function.
STUDY SUMMARY
Alcohol consumption is associated with different variants depending on your specific ethnic group.
STUDY DESCRIPTION
Alcohol consumption is a complex trait influenced by both genetic and environmental factors. It is highly correlated with alcohol use disorders such as alcohol dependence and alcohol abuse. Excessive alcohol consumption also increases the risk of other health conditions, such as liver problems, cardiovascular diseases, and cancer.
STUDY SUMMARY
Identification of 13 genetic variants associated with carbohydrate consumption.
21th
PERCENTILE
STUDY DESCRIPTION
Carbohydrates (carbs) are found in many foods, both healthy and unhealthy, that we regularly consume. The body breaks down carbs into glucose, a sugar that is used as an energy source. There are two types of carbohydrates: simple and complex. Simple carbs include white bread and soda. They are rapidly broken down, leading to a spike in blood sugar. Examples of complex carbs are whole-grain bread and oatmeal. Unlike simple carbs, complex carbohydrates are broken down slowly, leading to a gradual and stable increase in blood sugar.
STUDY SUMMARY
This report is based on a study that discovered 89 genetic variants associated with an individual’s age when they first become a parent.
20th
PERCENTILE
STUDY DESCRIPTION
Historically, the age at which people become parents for the first time has been young, often in their 20s or earlier. With societal, cultural, and medical changes, people today often reach the age of 30 before having their first child. While many of the environmental and cultural factors influence the age at which person has their first child, genetics also plays a role.
STUDY SUMMARY
Identification of 42 genetic regions associated with diverticular disease.
20th
PERCENTILE
STUDY DESCRIPTION
The colon, also known as the large intestine, squeezes water and nutrients out of the food we eat. Diverticular disease occurs when pressure causes small pouches to form in the colon, which can result in abdominal pain, intestinal bleeding, and diarrhea. Diverticular disease is very common, affecting around 35% of those under 50 and nearly 60% of individuals over 60, though not everyone experiences symptoms. Genetics is thought to explain over 50% of an individual’s risk of developing diverticular disease.
STUDY SUMMARY
Identification of 233 novel variants associated with multiple sclerosis and the body’s immune response system.
20th
PERCENTILE
STUDY DESCRIPTION
Multiple sclerosis is an autoimmune disease that leads to degeneration of the central nervous system. It’s characterized by damage to the nerves that can lead to problems with vision, movement, and speech.
STUDY SUMMARY
Identification of 11 novel genomic regions associated with anhedonia, the inability to feel pleasure.
19th
PERCENTILE
STUDY DESCRIPTION
Anhedonia refers to a condition characterized by an inability to feel pleasure from activities that are considered enjoyable. It’s a common symptom of depression and other psychiatric disorders and reduces the quality of life. The genetic underpinnings of anhedonia are not well understood.
STUDY SUMMARY
The risk of developing kidney stones is increased with a genetic variant in the CLDN14 gene.
STUDY DESCRIPTION
Kidney stone disease is a common condition in which hard deposits made of minerals and salts - usually calcium oxalate - build up in the kidneys. Few genetic variants that correlate to a person's risk of developing kidney stones have been found.
STUDY SUMMARY
This report is based on a study that discovered 14 genetic variants associated with stool frequency.
18th
PERCENTILE
STUDY DESCRIPTION
When you gotta go, you gotta go. But, while there is no “normal” number of bowel movements, many healthcare providers agree that healthy bowel movement frequency can range from three times a day to three times a week. For some individuals, such as those affected by irritable bowel syndrome, stool frequency can be much higher.
STUDY SUMMARY
Discovery of four genetic variants associated with eosinophilic granulomatosis, a rare autoimmune disease that affects the blood vessels.
18th
PERCENTILE
STUDY DESCRIPTION
Eosinophilic granulomatosis with polyangiitis (EGPA; also known as Churg-Strauss syndrome) is a rare autoimmune disease. It’s characterized by abnormally high levels of eosinophil white blood cells and inflammation of small- and medium-sized blood vessels. The early stage of the disease is marked by an inflammation of the airways that causes asthma. Later stages also affect other organs, in particular the digestive tract and the heart.
STUDY SUMMARY
This report is based on a study that discovered 27 genetic variants associated with otosclerosis.
18th
PERCENTILE
STUDY DESCRIPTION
When sound waves enter the ear canal, they cause the eardrum to vibrate, which sends vibrations to three tiny bones in the middle ear. These bones amplify the sound vibrations and transmit them to the inner ear. Otosclerosis is a condition that affects the bones of the middle ear. It is characterized by abnormal growth of these bones, which interferes with their movement and ability to transmit sound from the outer ear to the inner ear. This results in hearing loss. The more the movement of the bones becomes constrained, the greater the degree of hearing loss. Otosclerosis is a relatively common cause of hearing loss, occurring in between 2 and 10% of adults.
STUDY SUMMARY
This report is based on a study that discovered 5 genetic variants associated with posttraumatic stress disorder.
17th
PERCENTILE
STUDY DESCRIPTION
Posttraumatic stress disorder (PTSD) is a condition that affects individuals who have experienced a traumatic event. Though commonly associated with experiencing wars, PTSD can also result from experiencing events such as natural disasters, car accidents, sexual violence, and many others. Individuals with PTSD often have disturbing thoughts and feelings related to their traumatic experiences. These persist long after the traumatic event and are often relived through flashbacks or nightmares.
STUDY SUMMARY
This report is based on a study that discovered more than 100 genetic variants associated with hemorrhoids.
17th
PERCENTILE
STUDY DESCRIPTION
Hemorrhoids occur when veins in and around the anus become swollen and inflamed which can lead to pain and bleeding. Hemorrhoids are extremely common, potentially affecting up to 1 in every 20 individuals, and the likelihood of developing the condition increases with age. This genome-wide association included 944,000 individuals of European ancestry and discovered 102 genetic variants associated with the development of hemorrhoids.
STUDY SUMMARY
Genetic variants linked to the immune system are associated with psoriasis.
16th
PERCENTILE
STUDY DESCRIPTION
Psoriasis is a condition where extra skin cells build-up on the surface of the skin, causing scales and itchy red patches to form. In an effort to better understand genetic variants that lead to an increased risk of developing psoriasis, this study examined 10,740 individuals of European ancestry.
STUDY SUMMARY
Discovery of 10 genetic variants associated with accelerated aging.
16th
PERCENTILE
STUDY DESCRIPTION
“Biological age” is a measure of how well a human body is functioning relative to its actual calendar age. Studies have shown that the biological age can be estimated by measuring DNA modifications, known as methylations, across the genome. The presence of these aging-associated modifications is influenced by environmental (e.g. lifestyle) as well as genetic factors.
STUDY SUMMARY
Identification of 9 genomic regions associated with habitual moderate-to-vigorous physical activity.
15th
PERCENTILE
STUDY DESCRIPTION
Being physically active is one of the most important things you can do for your health. Physical activity has many benefits such as reduced risk of depression and heart disease. Unfortunately, on average 1 in 4 adults do not meet the recommended levels of physical activity. While many factors contribute to an individual’s likelihood to be physically active, genetics has been shown to play a role.
STUDY SUMMARY
Identification of genetic variants associated with migraines and synaptic function.
15th
PERCENTILE
STUDY DESCRIPTION
Migraines are recurring headaches characterized by severe pain, nausea, and sensitivity to light and sound. A migraine is the most common brain disorder, affecting 14% of adults. Currently, few genetic factors that associate with an increased predisposition to migraines have been found.
STUDY SUMMARY
Discovery of 336 new genomic regions associated with refractive errors, including nearsightedness.
15th
PERCENTILE
STUDY DESCRIPTION
Refractive errors occur when the shape of the eye does not bend light correctly, resulting in unfocused or blurry vision. One of the major types of refractive errors is myopia, otherwise known as nearsightedness. Refractive errors are very common, and the prevalence is increasing, likely due to a combination of environmental and genetic factors.
STUDY SUMMARY
Identification of 12 variants associated with avoidance, a symptom of post-traumatic stress disorder.
15th
PERCENTILE
STUDY DESCRIPTION
Post-traumatic stress disorder (PTSD) is a mental health condition caused by experiencing a traumatic event. Though many people associate PTSD with war veterans, anyone can experience the disorder. Common symptoms of PTSD include flashbacks and nightmares related to the traumatic event, avoidance of particular situations, and being easily startled. Avoiding particular events or experiences as part of PTSD symptoms is referred to as “avoidance” behavior.
STUDY SUMMARY
This report is based on a study that discovered 139 genetic variants associated with varicose veins.
14th
PERCENTILE
STUDY DESCRIPTION
Veins are blood vessels that carry blood from all parts of the body back to the heart. Varicose veins are swollen, twisted veins that occur when the veins do not adequately transport blood back to the heart. This can lead to blood buildup and increased pressure in the veins, which can cause the veins to enlarge and become visible beneath the skin. It can also result in discomfort and other symptoms. Genetics is known to contribute to an individual’s propensity for developing varicose veins, with nearly half of all people with varicose veins having other family members with the condition.
STUDY SUMMARY
Identification of novel genetic variants associated with personality traits as well as a genetic correlation between personality and predisposition to psychiatric disorders.
14th
PERCENTILE
STUDY DESCRIPTION
Personality is determined by environmental and genetic factors. It can be modeled according to five broad domains (“Big Five”): extraversion, neuroticism, agreeableness, conscientiousness, and openness.
STUDY SUMMARY
Identification of 6 genetic variants associated with fat consumption.
13th
PERCENTILE
STUDY DESCRIPTION
Fats are essential macronutrients that serve as structural building blocks in the body. More specifically, the membranes of our cells are mostly made of fat. Moreover, fats also allow certain vitamins to be absorbed by the intestines. On average, adults consume 44 to 77 grams of fat per day. To identify genetic variants that are associated with fat consumption, this genome-wide association study examined the genomes of over 260,000 individuals of European ancestry.
STUDY SUMMARY
This report is based on a study that discovered 6 genetic variants associated with myasthenia gravis.
13th
PERCENTILE
STUDY DESCRIPTION
Myasthenia gravis is an autoimmune neuromuscular disease. It occurs when the immune system mistakenly attacks and damages the connections between muscles and nerves. This leads to muscular weakness across the body, and can also cause double vision, a propensity to falling, difficulty speaking, and shortness of breath. This genome-wide association study examined more than 38,000 individuals of European ancestry and discovered 6 genetic variants associated with myasthenia gravis.
STUDY SUMMARY
Discovery of 5 genomic regions associated with nicotine dependence.
12th
PERCENTILE
STUDY DESCRIPTION
Nicotine is a chemical commonly found in tobacco products such as cigarettes, cigars, and e-cigarettes (vapes). Many smokers become dependent on nicotine. Signs of dependence include mood swings, anxiety, and restlessness following attempts to quit. Nicotine dependence is a highly heritable trait, but very few associated genomic regions have been discovered to date. This study examined over 58,000 smokers of European and African ancestry and identified 5 regions of the genome linked to nicotine dependence.
STUDY SUMMARY
Identification of multiple regions of the genome associated with resilience to Alzheimer’s disease.
12th
PERCENTILE
STUDY DESCRIPTION
Alzheimer’s disease is a form of dementia in which brain cells degenerate and die. The condition develops gradually, and over time affects memory, mood, thinking, and behavior. Alzheimer’s disease is quite common in seniors, potentially affecting up to half of those older than 85. However, while many people are affected by the degeneration of brain cells, not everyone develops cognitive impairments. These individuals are considered to have “asymptomatic” Alzheimer’s disease and little is known about the degree to which genetics influences whether an individual will be asymptomatic or show cognitive decline.
STUDY SUMMARY
Resistance to tuberculosis may be associated with a genetic variant in the WT1 gene.
STUDY DESCRIPTION
Tuberculosis is a disease caused by a bacteria that usually affects the lungs, although it can also damage other parts of the body. Common symptoms of tuberculosis include coughing up blood, fatigue, and pain in the chest. While it is known some people are resistant to tuberculosis, the genetic variants that may lead to this trait have not been discovered.
STUDY SUMMARY
This report is based on a study that discovered 73 genetic variants associated with migraines.
12th
PERCENTILE
STUDY DESCRIPTION
A migraine is a headache characterized by throbbing head pain, usually located on one side of the head. It is often accompanied by nausea, vision troubles, and sensitivity to light and/or sound. Women are three times more likely to experience migraines than men. To identify genetic factors linked to migraines, this study examined almost 900,000 individuals of European ancestry.
STUDY SUMMARY
Discovery of 28 novel genomic regions associated with breast cancer risk.
12th
PERCENTILE
STUDY DESCRIPTION
Breast cancer is the second most commonly diagnosed cancer in the United States. Much research has been done to find genetic variants associated with predisposition to breast cancer. However, most studies have been conducted in women of European ancestry, potentially missing breast cancer-associated variants that are less common in Europeans.
STUDY SUMMARY
Discovery of 41 genetic risk variants associated with hay fever.
11th
PERCENTILE
STUDY DESCRIPTION
Achoo! When allergens cause inflammation in our sinuses, we begin to sneeze, get watery eyes, and runny noses. This condition, known as hay fever, is the most common form of allergy, affecting 400 million people worldwide. Overall, heritability may explain up to 65% of variation between people in developing hay fever.
STUDY SUMMARY
Identification of 64 genetic loci that are associated with resting heart rate, a key predictor of cardiovascular health.
11th
PERCENTILE
STUDY DESCRIPTION
The heart rate is the number of times that the heart beats per minute. In adults, the resting heart rate is typically 60 to 100 beats per minute. A lower resting heart rate indicates a more efficient function of the heart and better health. People who are physically very fit, for example professional runners, may have a resting heart rate as low as 40 beats per minute! Conversely, an elevated resting heart rate can be a predictor of high blood pressure, heart disease, and heart failure.
STUDY SUMMARY
This report is based on a study that discovered 21 genetic variants associated with osteoarthritis.
11th
PERCENTILE
STUDY DESCRIPTION
Joints, including the knee and shoulder, are areas where 2 or more bones meet. Arthritis is a condition that is characterized by inflammation in the joints that leads to painful movement. Osteoarthritis is the most common form of arthritis, and it is often seen in older people. In individuals with osteoarthritis, the protective covering of the joints becomes worn down, causing the bones within the joint to rub together. This causes pain, stiffness, and other symptoms.
STUDY SUMMARY
Identification of 41 genetic variants associated with left-handedness.
11th
PERCENTILE
STUDY DESCRIPTION
Handedness influences how we write, throw a ball and perform many other common activities. Right-handedness is much more common, with only 1 in 10 people being a lefty. Genetics appears to play a role in determining which hand is dominant, perhaps accounting for a quarter of all variation in handedness.
STUDY SUMMARY
A genetic variant in the GNL3 gene may increase the risk of osteoarthritis.
10th
PERCENTILE
STUDY DESCRIPTION
Osteoarthritis is the most common form of arthritis worldwide. It is also called “wear and tear” arthritis and occurs when the cartilage between joints breaks down, leading to pain, stiffness, and swelling. Osteoarthritis is known to have a heritable component that contributes to risk, but the genetic factors are not well defined.
STUDY SUMMARY
Discovery of 202 regions of the genome associated with the heart’s PR interval duration.
9th
PERCENTILE
STUDY DESCRIPTION
The heart beats at regular intervals to pump blood through the body. To control the timing of a heartbeat, the heart relies on a system that sends electrical signals to the heart's muscle cells. The electrocardiogram, or ECG, is a commonly used medical procedure to measure the electrical activity during a heartbeat. The PR interval is the time between the activation of the heart’s atria and the activation of the ventricles. A normal PR interval duration is between 0.12 and 0.20 seconds. A PR interval duration that is too short, too long, or irregular can be an indication for heart disease.
STUDY SUMMARY
Identification of 99 genetic variants associated with autoimmune thyroid disease.
8th
PERCENTILE
STUDY DESCRIPTION
The human immune system evolved to defend our bodies against disease-causing microorganisms. However, sometimes a person’s immune system may attack the body’s own cells, causing an autoimmune disease. When the immune system attacks and destroys the thyroid gland, a bowtie-shaped, hormone-producing organ in the neck, it can slow the heartbeat, cause weight gain, and lead to feeling cold, tired, and depressed.
STUDY SUMMARY
This report is based on a study that discovered 14 genetic variants associated with an individual’s predisposition to frailty.
8th
PERCENTILE
STUDY DESCRIPTION
Frailty is a medical condition characterized by reduced ability to function and diminished health. Individuals experiencing frailty often experience weight loss, reduced strength, and low activity levels. As a result, these individuals are more susceptible to having major health declines from issues such as infections or falls. Age increases an individual’s odds of becoming frail.
STUDY SUMMARY
This report is based on a study that discovered 18 genetic variants associated with Barrett’s esophagus.
7th
PERCENTILE
STUDY DESCRIPTION
The esophagus is a muscular tube that transports saliva, liquids, and food from the mouth to the stomach. Barrett’s esophagus is a condition that can develop in which the lining of the esophagus becomes damaged by stomach acid, causing it to thicken and become inflamed. Because of this tissue damage, individuals with Barrett’s Esophagus have a 30-125 times greater risk of developing esophageal cancer. This genome-wide association study examined over 49,000 individuals of European ancestry and identified 18 genetic variants associated with Barrett’s esophagus.
STUDY SUMMARY
Identification of 8 genetic variants associated with critical illness following COVID-19 infection.
7th
PERCENTILE
STUDY DESCRIPTION
COVID-19 is a transmissible disease caused by the SARS-CoV-2 virus. Though symptoms vary from person to person, many develop a fever, cough, difficulty breathing, and a loss of taste/smell. For most people, these symptoms are only mild and resolve within a few weeks. However, around 5% of infected individuals develop a more severe disease, which can include respiratory failure, septic shock, and multi-organ failure. While comorbidities such as obesity and asthma make individuals more susceptible to critical illness, genetics is also believed to contribute to disease severity.
STUDY SUMMARY
Identification of a genetic variant associated with a decreased risk of SARS coronavirus infection.
STUDY DESCRIPTION
The severe acute respiratory syndrome (SARS) coronavirus emerged in 2003 in China, infecting over 8000 people and causing over 900 deaths across the world. Typical symptoms include high fever, headache, and a dry cough. Previous studies have shown that interferons can inhibit the replication of the SARS coronavirus by inducing production of antiviral proteins like MxA.
STUDY SUMMARY
This report is based on a study that discovered 6 genetic variants associated with predisposition to experiencing vertigo.
7th
PERCENTILE
STUDY DESCRIPTION
Vertigo causes an illusion of motion, leading to feelings of moving or spinning even when you remain stationary. Vertigo can either result from a problem with the inner ear which is the location of an organ that controls balance, or problems with certain parts of the brain.
STUDY SUMMARY
Identification of 5 novel genetic loci correlated to a person’s risk of developing late-onset Alzheimer’s disease.
6th
PERCENTILE
STUDY DESCRIPTION
Alzheimer’s disease is a common cause of dementia, characterized by the degeneration of brain cells. Late-onset Alzheimer’s is the most typical form of Alzheimer’s disease and typically results in the progressive impairment of cognitive abilities. Heredity is known to have a component in determining a person’s risk of developing Alzheimer’s disease.
STUDY SUMMARY
Discovery of 4 novel genetic variants associated with acute lymphoblastic leukaemia (ALL).
6th
PERCENTILE
STUDY DESCRIPTION
Acute lymphoblastic leukaemia (ALL) is a type of blood cancer that leads to a debilitating overproduction of lymphocytes, a type white blood cells. ALL is the most common cancer for young children, accounting for around 85% of all cases.
STUDY SUMMARY
Identification of 301 genetic variants associated with type 2 diabetes in East Asian populations.
6th
PERCENTILE
STUDY DESCRIPTION
Blood sugar, or glucose, is the body’s main source of energy. Its concentration in the blood is controlled by the hormone insulin which is produced in the pancreas. Insulin promotes the intake of blood sugar by the cells in the body which reduces its concentration in the blood. Type 2 diabetes occurs when cells don’t respond to insulin and/or the pancreas does not produce enough insulin. This results in increased blood glucose concentration which damages organs, nerves, and blood vessels.
STUDY SUMMARY
Risk of ulcerative colitis may be influenced by variants that play a role in cell adhesion.
6th
PERCENTILE
STUDY DESCRIPTION
Ulcerative colitis occurs in the large intestine when the lining of the colon becomes inflamed, forming ulcers (open sores). To better understand the genetic risk factors that may predispose a person to ulcerative colitis, this genome-wide association study examined 15,554 individuals of European descent.
STUDY SUMMARY
Identification of novel variants (one of which was in the BIN1 gene) associated with Alzheimer’s disease.
5th
PERCENTILE
STUDY DESCRIPTION
Alzheimer’s disease is a progressive brain disorder that slowly decreases memory and cognitive skills. It is the most common form of dementia in older adults and is known to be a highly heritable disease.
STUDY SUMMARY
This report is based on a study that discovered 46 novel genetic variants associated with gallstone development.
5th
PERCENTILE
STUDY DESCRIPTION
The gallbladder is a small, pear-shaped pouch located under the liver. It is connected to the intestines and liver by small tubes called bile ducts. Bile ducts carry bile, a yellow-green fluid produced by the liver, which helps with digestion. Occasionally, bile can form hardened clumps known as gallstones, which can cause pain, and in severe cases require surgical removal. Some individuals appear to have a higher propensity for gallstone formation, though the reasons are not clear.
STUDY SUMMARY
Identification of 22 genetic variants associated with the heart’s left ventricular ejection fraction (LVEF).
5th
PERCENTILE
STUDY DESCRIPTION
The human heart is a muscle that pumps blood throughout the body. It consists of 4 chambers: 2 atria (left and right) and 2 ventricles (left and right). Blood that has been enriched with oxygen in the lungs enters the left atrium and then flows into the left ventricle from where it’s pumped to all other parts of the body. When the left ventricle contracts, not all blood is ejected and some remains inside of the ventricle. Left ventricular ejection fraction (LVEF) is calculated by dividing the blood volume that leaves the left ventricle when the heart muscles contract by the blood volume that remains inside the left ventricle.
STUDY SUMMARY
Discovery of 123 regions of the genome associated with daytime napping.
4th
PERCENTILE
STUDY DESCRIPTION
Nearly one-third of individuals in the United States typically take a nap every day. In other parts of the world, such as in the Mediterranean, napping is even more common. While napping can greatly help improve alertness and memory, a midday snooze is also believed to affect physical health. Genetic factors appear to have a big influence on whether an individual takes regular naps or not.
STUDY SUMMARY
Identification of 145 genetic variants associated with leisure television watching.
3th
PERCENTILE
STUDY DESCRIPTION
Leisure sedentary behaviors, like watching Netflix and playing Animal Crossing, sure can be fun! In fact, the average adult in the United Kingdom spends an average of 5 hours per day on activities like this. However, research suggests that long periods of sedentary behaviors could increase an individual's risk for conditions like coronary artery disease.
STUDY SUMMARY
41 novel genetic variants were determined to be associated with breast cancer, most of which are found in genes that play a role in cell death and differentiation.
3th
PERCENTILE
STUDY DESCRIPTION
Breast cancer is the most common cancer for women worldwide. To identify genetic factors that correlate with a risk of developing breast cancer, this study analyzed genetic data from 9 previous genome-wide association studies.
STUDY SUMMARY
This report is based on a study that discovered 18 genetic variants associated with syncope.
2th
PERCENTILE
STUDY DESCRIPTION
Syncope, also known as fainting, is a temporary loss of consciousness and posture caused by a decrease in blood flow and oxygen to the brain. It is often triggered by factors such as overheating, dehydration, or a change in body position, though it can also be a sign of various heart diseases. The onset of syncope is sudden and the recovery is near as spontaneous. It is a common medical problem, affecting up to 35% of people at some point in their lives. Previous studies in families have shown that the risk for syncope has a heritable component, but the genes associated with this propensity have not been identified.
STUDY SUMMARY
Identification of 4 novel genetic variants correlated with handedness.
2th
PERCENTILE
STUDY DESCRIPTION
Are you a righty or a lefty? Nearly 90% of individuals are right-handed. While handedness appears to be hereditary, the genetics that determines handedness is poorly understood.
STUDY SUMMARY
Identification of 23 novel genetic variants associated with vitiligo, an autoimmune disease that causes loss of skin color.
1th
PERCENTILE
STUDY DESCRIPTION
The color of a person’s skin is determined by the amount of melanin, a dark pigment that is produced by cells called melanocytes. Vitiligo is a rare disease characterized by the destruction of melanocytes by the body’s own immune system. This causes patches of skin to lose their color.
STUDY SUMMARY
Identification of 42 novel genetic variants related to excessive daytime sleepiness and other sleep-related disorders.
0th
PERCENTILE
STUDY DESCRIPTION
For some, being sleepy during the day is not because they stayed up too late binge-watching the latest TV show. More than 1 in 10 people are affected by excessive daytime sleepiness, which can be a broader symptom of many sleep-related disorders like sleep apnea and narcolepsy. This study examined the genetic data of over 450,000 individuals of European ancestry who reported how sleepy they feel during the day.
STUDY SUMMARY
Identification of 90 genetic variants associated with Parkinson’s disease.
0th
PERCENTILE
STUDY DESCRIPTION
Parkinson’s disease is a neurodegenerative disorder caused by reduced dopamine signaling in some regions of the brain that leads to tremors. This can impair various activities that involve muscle movements including walking, speaking and eating. To date, Parkinson’s disease remains largely a genetic mystery.
STUDY SUMMARY
This report is based on a study that discovered 27 genetic variants associated with ADHD.
0th
PERCENTILE
STUDY DESCRIPTION
Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder characterized by difficulty paying attention, hyperactivity, and impulsivity. It is typically diagnosed in childhood and often persists into adulthood. ADHD may impact individuals in many aspects of their life including academic and professional achievements, interpersonal relationships, and daily functioning. The exact cause of the condition is not known, but it is believed to result from a combination of genetic and environmental factors. To better understand the genetic component of ADHD susceptibility, this study examined over 225,000 individuals of European ancestry.
STUDY SUMMARY
Identification of 71 genetic regions associated with male-pattern baldness.
0th
PERCENTILE
STUDY DESCRIPTION
Hair loss is an extremely common condition. In fact, by the age of 50, about 50% of men experience major hair thinning, ultimately leading to a bald region surrounded by hair in a horseshoe-like pattern. This is known as male-pattern baldness. Male-pattern baldness is a common, heritable disorder that is linked to testosterone levels and is often associated with serious health conditions, such as increased risk of prostate cancer, heart disease, and diabetes. However, the underlying genetic basis of MPB remains poorly understood.
STUDY SUMMARY
Identification of 153 new genetic variants associated with bone mineral density.
0th
PERCENTILE
STUDY DESCRIPTION
Bone mineral density is the amount of bone mineral in bone tissue. High bone mineral density means stronger bones and a lower risk of fractures and osteoporosis.
STUDY SUMMARY
Discovery of a variant in the FTL1 gene associated with susceptibility to sepsis-induced acute respiratory distress syndrome.
STUDY DESCRIPTION
Sepsis occurs when chemicals that are released in the bloodstream to fight an infection trigger inflammation throughout the body. Sepsis can be life-threatening and lead to long-term damage of many organs. If the lungs are affected, it can result in acute respiratory distress syndrome (ARDS), whereby fluids enter the lungs, making it extremely difficult to breathe.
STUDY SUMMARY
Identification of 5 genomic loci associated with resistance to severe malaria.
0th
PERCENTILE
STUDY DESCRIPTION
Malaria is a disease caused by parasites transmitted via mosquito bites. Typical symptoms are chills, high fever and, in severe cases, organ failure. The World Health Organization estimated 219 million malaria cases in 2017, with the estimated number of deaths totaling 435,000. This study sought to identify genomic regions associated with resistance to severe malaria.
STUDY SUMMARY
Identification of 4 genetic variants associated with psychotic experiences.
0th
PERCENTILE
STUDY DESCRIPTION
Psychosis, or psychotic experiences, typically describes a condition where an individual has an impaired relationship with reality. The most common experiences include hallucinations and delusions. Though these psychotic experiences can occur alongside trauma, stress, or substance abuse, they can also be a symptom of an underlying psychiatric illness.
STUDY SUMMARY
Discovery of 3 genomic regions associated with an increased risk of falling.
0th
PERCENTILE
STUDY DESCRIPTION
Falls are the leading cause of injury among older adults, with more than one-third of all Americans over 65 suffering a fall each year. For some injuries, such as hip fractures, up to 90% occur as the result of falls. Because many factors that lead to falling, such as cognition and muscle function, have a genetic component, this study sought to find genetic factors directly associated with an increased risk of falling.
STUDY SUMMARY
Discovery of 3 genetic variants that are associated with spontaneous fraternal twinning.
0th
PERCENTILE
STUDY DESCRIPTION
If you walk past 30 people in the United States, the odds are good that at least one of them will have a twin brother or sister. Travel to many areas of Asia and that number rockets to 70 people, but visit the west African country of Benin and you may only need to walk past 16 people to see a twin. Twins can either be identical or fraternal, but the genetic factors that may influence a woman’s chances of having either type are not well understood.
STUDY SUMMARY
Identification of 2 genetic loci correlated with the development of food addiction.
STUDY DESCRIPTION
Foods, especially those that are high in sugar, fat, or salt, can trigger the release of the feel-good chemical known as ‘serotonin’ in our brains. Though an ongoing debate within the scientific community, food addiction is believed to share mechanisms with drug addiction. Food addiction can involve binge eating and a lack of control around food, putting those affected at a high risk of developing obesity.
STUDY SUMMARY
Identification of 4 novel genetic variants that correlate with childhood growth and BMI.
STUDY DESCRIPTION
Obesity remains one of the biggest epidemics of the 21st century. Body mass index (BMI), a calculation based on a person’s height and weight, is the most common measure of obesity. Early in life, BMI fluctuates across three different periods: a peak after birth, a decline until the age of 5-6, and then an increase until adulthood. Adolescent BMI measurements were previously known to influence adult BMI levels, but little genetic contribution has been identified.
STUDY SUMMARY
Identification of a region of the genome associated with how intensely the smell of licorice is perceived.
STUDY DESCRIPTION
The perception of smell is enabled by olfactory receptors, which are proteins that bind odor molecules. Humans have about 350 olfactory receptor genes that each can detect a number of different odor compounds that together can create a vast number of different scents. However, when presented with the same smell, different individuals may perceive the smell’s intensity differently. This genome-wide association study looked at the genomes of over 11,000 Icelandic people to identify the genetics underlying differences in the perception of the scent of licorice, an ingredient found in a wide variety of candies or sweets.
STUDY SUMMARY
Identification of a region of the genome associated with the ability to recognize the smell of cinnamon.
STUDY DESCRIPTION
The perception of smell is enabled by olfactory receptors, which are proteins that bind odor molecules. Humans have about 350 olfactory receptor genes that each can detect a number of different odor compounds that together can create a vast number of different scents. However, when presented with the same smell, different individuals vary in their ability to identify the smell. This genome-wide association study looked at the genomes of over 11,000 Icelandic people to identify the genetics underlying differences in the detection of the scent of cinnamon.
STUDY SUMMARY
Identification of a common genetic variant that confers HIV resistance.
STUDY DESCRIPTION
The human immunodeficiency virus (HIV) destroys the immune system by killing white blood cells that are needed to fight infection. This disease is called acquired immunodeficiency syndrome (AIDS). CCR5 is a protein on the surface of white blood cells, that is bound by HIV and used to enter the cells.
STUDY SUMMARY
Identification of a genetic variant that confers resistance to transmissible Creutzfeldt-Jakob disease.
STUDY DESCRIPTION
Prion diseases are brain disorders caused by misfolded proteins that form aggregates leading to progressive, fatal dementia. Some prion diseases are transmissible. For example, consuming meat infected with misfolded prion proteins can induce the body’s own prion proteins to misfold and aggregate.
STUDY SUMMARY
Genome-wide analysis reveals a novel genetic loci correlated with fainting.
STUDY DESCRIPTION
Fainting is a temporary loss of consciousness. This common condition typically occurs when there is an insufficient flow of blood to the brain. Previous studies have suggested that fainting may be heritable, yet few genetic loci correlated to the condition have been identified.
STUDY SUMMARY
Genetic variants in the CD1A gene are associated with an increase of the NFL protein level in the blood and a higher risk of Alzheimer’s disease.
STUDY DESCRIPTION
Alzheimer’s disease causes a gradual decline in memory and thinking abilities by damaging the nerve cells in the brain. Blood level of neurofilament light protein (NFL) is often used to test for the presence or progress of Alzheimer’s disease and other neurodegenerative disorders. The genetic contribution leading to increased NFL levels in the blood is not well understood.
STUDY SUMMARY
A genetic variant near genes commonly expressed in the brain may influence the development of depression.
STUDY DESCRIPTION
Depression, also known as major depressive disorder, is a mood disorder that causes feelings of sadness and loss of interest in activities. It is known to have a strong genetic component.
STUDY SUMMARY
Cannabis use disorder may be linked to a genetic variant in the CHRNA2 gene.
STUDY DESCRIPTION
About 1 in 10 users of cannabis become dependent on it and develop cannabis use disorder (CUD). This study examined 51,372 individuals of Danish and Icelandic descent in order to find genetic variants associated with CUD.
STUDY SUMMARY
Variants in the RORA gene are linked to posttraumatic stress disorder (PTSD).
STUDY DESCRIPTION
Post-traumatic stress disorder (PTSD) is defined by disturbances in cognitive, emotional, and behavioral functioning that occurs in response to a traumatic event. To identify genetic variants significantly associated with PTSD, this study examined the genetic data of 761 Caucasian and African-American veterans.
YFull
Unlike Nebula and Promethease, YFull focuses on ancestry rather than phenotypes. It targets a more technical audience; not all of the information you are given is useful to a layman like me. YFull places you into mtDNA and Y-DNA haplogroups, which is what I found most interesting.
Mitochondrial DNA (mtDNA), and Y-chromosome DNA (Y-DNA) is passed directly from parent to child, without any sexual recombination. The mtDNA comes from your mother, while Y-DNA (if you have it) comes from your father. Because there is no recombination, these regions of DNA stay mostly unchanged for thousands of years. Thus, people can be classified into haplogroups based on their mtDNA or Y-DNA. People with a more recent common ancestor have a more similar mtDNA or Y-DNA, and thus belong to a closer haplogroup.
YFull places me in mtDNA haplogroup H4a1a1c, and Y-DNA haplogroup R-BY4675*. Haplogroups are oragnized in a hierarchical manner; they form a tree structure. For mtDNA haplogroups, each letter corresponds to a node in a tree. Thus, as someone who belongs to H4a1a1c, I also belong to H4a1a1, H4a1, H4, et cetera. The naming convention for Y-DNA haplogroups is not as clear, but the idea is similar.
Unexpected community
A stranger reached out to me through YFull:
Hi,
This facebook group combines info from YFull and FTDNA, and makes a tree out of this. Your kit is in this tree.
The page is https://www.facebook.com/groups/R1b.L238
I joined the group, which is full of people in my Y-DNA haplogroup. Before I knew it, I had been added to a hand-crafted ancestry map showing my relatedness to the other strangers in the group.
The above map shows the "Third Scandinavian Branch", which is a continuation of the following map:
I'm not qualified to judge the scientific accuracy of these ancestry trees. In any case, I love the dedication shown. I never thought uploading my data to YFull would result in strangers reaching out to me and showing interest in my ancestry.
Feelings
In this section, I try to convey how it feels to read over your results.
When people ask "Would you want to know when (or how) you die?", I've always been the kind of person which answers yes. I'm also the kind of person who wants to know how the sausage is made. For me, there is no such thing as too much information ... or so I thought. Reading over my genetic results is the first time I've almost felt differently. I'm happy I got my genome sequenced, but some of the results still made my stomach sink.
Scrolling through Promethease
I was on my mobile phone waiting in the barber shop for my appointment. Instead of reading the infinite scrolling feed of Reddit to kill said time, I decided to use the time to look at my Promethease report for the first time. What I did not expect was the eerie similarity between the Promethease report and such an infinite scrolling feed.
One of the tricks social media companies use to create engaging feeds is mixing different emotions in an unpredictable way. One post may bring out strong positive emotions, while the next brings out strong negative emotions. Just like slot machines, the unpredictability of what you'll see next keeps you engaged for hours.
Promethease is the exact same way. You can scroll down essentially forever, revealing an unpredictable sequence of red and green. You may see a red SNP, which reads something like:
Carrier of a mutation for Stargardt disease. Unaffected in absence of another pathogenic ABCA4 gene mutation.
Of course, they don't tell you if you have that ABCA4 mutation, so you search your report for "ABCA4". No results. Hopefully that means you're good? You Google what "Stargardt disease" is in the first place:
Stargardt disease is a rare genetic eye disease that happens when fatty material builds up on the macula — the small part of the retina needed for sharp, central vision. Vision loss usually starts in childhood — but some people with Stargardt disease don't start to lose their vision until they're adults.
You don't have vision loss yet, so conclude you're probably fine. Scroll down once again, rinse and repeat.
Intelligence
Reading some red tiles hits harder than others. A lot of people have something they are self-conscious about, or an attribute they care about having. Athletes may care a lot about having strong and healthy muscles, or lots of testosterone (irrespective of gender). Supermodels may care about their metabolic rate (how fast they burn calories), their thinness, or their facial symmetry. For many aspiring knowledge workers or academics, that attribute is intelligence.
I am not exactly sure what career path I wish to pursue in the future. However, what I know is that for each of the career paths I'm considering, intelligence is highly correlated with success. If I wish to believe I will succeed in those fields, I must also believe I have the potential to be intelligent enough.
"Impaired cognitive ability"
That's why it really hurt my stomache to read the following from my Promethease report:
impaired cognitive ability
g2b2mh blog In a population of healthy individuals, those that carry common variants (such as rs760761, rs1018381, rs2619522) located in the dysbindin (DTNBP1) gene, a risk factor for schizophrenia, show minor cognitive impairments such as decreased attentional capacity, worse performance on memory tasks, and alterations in schizotypal beliefs and experiences.
more info
more info
| Bad | Repute |
| 2 | Magnitude |
| 1.5% | Frequency |
The SNPedia genotype summary is even more blunt:
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.1 | normal cognitive ability |
| (T;T) | 2 | impaired cognitive ability |
The difference between "normal" and "impaired" cognitive ability is a single letter. When you it put like that, it really makes me wish there was a safe way to perform germline editing, such that unfortunate folks don't have to be born at a disadvantage.
I know it's dumb to let some string of letters which I have no control over dictate my self esteem. It doesn't say how big the effect size is; even if the difference is statistically significant, it doesn't mean the difference is meaningful. I'm sure it depends on which of the 26 studies you look at. Furthermore, there are many other factors which have an impact on intelligence. Still, when you're scrolling through your report and read "impaired cognitive ability"—and you partly base your self esteem on intelligence—it hurts.
Nebula studies
Seeing the above from Promethease made me curious what Nebula had to say about cognitive ability.
There are studies on Nebula's service which relate to intelligence and brain structure
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Larger subcortical brain volume | Satizabal, 2019 | ||
| Larger brain volume | Hilbar, 2015 | ||
| Higher intelligence | Sniekers, 2017 | ||
| Thicker cerebral cortrex | Grasby, 2020 | ||
| Larger cortical surface area | Grasby, 2020 | ||
| Larger brain volume | Zhao, 2019 | ||
| Larger brain volume | Jansen, 2020 |
The first thing you may notice is that there are three studies whose trait Nebula classifies as "Larger brain volume". One of the studies came out in 2015 and gives me a percentile of , while the other two came out in 2019 and 2020, looked at more than twice as many variants, and give me a percentile score in the low thirties.
There is a large disagreement between the 2015 study and the 2019 and 2020 ones. At first I simply thought this was due to the former looking at fewer variants ( rather than and ), and thus not having as much power. However, it all makes more sense when you actually read the (abstract of the) Hilbar et. al. 2015 paper. It states:
[...] we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. [...] (nucleus accumbens, caudate, putamen, pallidum, amygdala, hippocampus and thalamus)
From this information, I've come to the conclusion that the Hilbar 2015 study is probably more comparable to the Satizabal 2019 study, whose trait Nebula classifies as "Larger subcortical brain volume". I score in the and -th percentiles for the Hilbar 2015 and Satizabal 2019 studies, respectively.
There is thus remarkable agreement among the four studies, across different authors and publication dates: I have a genetic predisposition for larger subcortical regions, but an otherwise average or below average sized brain. The other cognitive indicators put me in the middle of the pack. I would gladly trade my subcortical regions for a larger cortex with more surface area, but I'll play the cards I'm dealt ¯\_(ツ)_/¯.
Summary
Going through my results was quite an emotional rollercoaster. Reading about all your genetic flaws hurts. The positive genetic traits please you less than the flaws hurt. However, I find solace in the fact that my genetics were determined before I was born—any genetic flaws I may have are not faults of my own making. There is no use worrying about what could have been; you must work with what you were given.
Numbers
Okay ... enough depressive talk. Let us look at the Nebula report in a quantitative manner!
A genetic freak?
The first thing that struck me when I saw my Nebula report were the percentiles (see for yourself in the div above). In case you don't know, if you are in the -th percentile for a given trait, your effect size for that trait is higher than percent of people in the population. In the case of Nebula, the percentile is calculated w.r.t. the population of other Nebula users (they say , but floating point analysis clearly shows ). Below is a bar chart showing the percentile I fall into for each trait.
If the trait percentiles were independent, one would expect the percentiles for a set of traits to be uniformly distributed in the range . That doesn't appear to be the case for me, which is especially clear if you look at a histogram.
Above you can see a histogram where I plot the number of times a trait's percentile falls into the range shown on the X-axis. A red line shows the uniform distribution. The histgram clearly fails the eye test for being uniform; there seems to be a disproportionate amount of traits in the range. Better than the eye test, we can use a two-sided Kolmogorov–Smirnov test.
from scipy import stats
percentiles = [ 1, 1, 1, 1, 1, 2999 / 3000, 2997 / 3000, 2996 / 3000, 2994 / 3000, 2988 / 3000, 2978 / 3000, 2968 / 3000, 2959 / 3000, 2953 / 3000, 2919 / 2987, 2908 / 2979, 2883 / 2978, 2900 / 3000, 2900 / 3000, 2894 / 3000, 2883 / 3000, 2878 / 3000, 2878 / 3000, 2873 / 3000, 2870 / 3000, 2863 / 3000, 2832 / 3000, 2830 / 3000, 2830 / 3000, 2814 / 3000, 2802 / 2988, 2809 / 3000, 2808 / 3000, 2766 / 3000, 2764 / 2998, 2764 / 3000, 2764 / 3000, 2758 / 3000, 2755 / 3000, 2729 / 3000, 2729 / 3000, 2704 / 2977, 2712 / 3000, 2676 / 2977, 2694 / 3000, 2669 / 2979, 2674 / 3000, 2664 / 3000, 2663 / 3000, 2657 / 3000, 2653 / 3000, 2614 / 2981, 2620 / 3000, 2605 / 3000, 2589 / 2992, 2585 / 3000, 2565 / 3000, 2544 / 2999, 2535 / 3000, 2528 / 3000, 2517 / 3000, 2498 / 2978, 2498 / 2987, 2507 / 3000, 2500 / 3000, 2485 / 3000, 2471 / 3000, 2468 / 3000, 2465 / 3000, 2440 / 3000, 2438 / 3000, 2407 / 3000, 2391 / 3000, 2317 / 2980, 2326 / 2999, 2319 / 3000, 2313 / 3000, 2310 / 3000, 2291 / 2999, 2277 / 3000, 2267 / 3000, 2250 / 3000, 2246 / 3000, 2234 / 3000, 2207 / 3000, 2177 / 3000, 2177 / 3000, 2164 / 3000, 2163 / 3000, 2153 / 3000, 2147 / 3000, 2105 / 3000, 2103 / 3000, 2082 / 2983, 2076 / 3000, 2053 / 3000, 2044 / 3000, 2031 / 3000, 2009 / 2994, 1987 / 3000, 1967 / 3000, 1955 / 3000, 1947 / 3000, 1909 / 3000, 1901 / 3000, 1893 / 3000, 1876 / 3000, 1872 / 2996, 1847 / 3000, 1843 / 3000, 1826 / 3000, 1816 / 3000, 1814 / 3000, 1792 / 3000, 1770 / 3000, 1757 / 3000, 1737 / 3000, 1706 / 3000, 1693 / 3000, 1691 / 3000, 1667 / 2979, 1658 / 3000, 1637 / 2997, 1633 / 3000, 1615 / 3000, 1613 / 3000, 1612 / 3000, 1596 / 3000, 1578 / 3000, 1547 / 2970, 1536 / 2986, 1522 / 2987, 1517 / 3000, 1488 / 2992, 1477 / 3000, 1444 / 3000, 1439 / 3000, 1437 / 3000, 1429 / 3000, 1427 / 3000, 1422 / 3000, 1414 / 3000, 1395 / 3000, 1394 / 3000, 1385 / 3000, 1383 / 3000, 1372 / 3000, 1341 / 3000, 1338 / 3000, 1328 / 3000, 1315 / 3000, 1307 / 3000, 1289 / 3000, 1278 / 3000, 1260 / 2989, 1259 / 3000, 1239 / 2988, 1210 / 3000, 1180 / 3000, 1179 / 3000, 1173 / 3000, 1145 / 3000, 1131 / 3000, 1104 / 3000, 1097 / 3000, 1086 / 3000, 1048 / 2978, 1052 / 3000, 1035 / 2970, 1044 / 3000, 1037 / 3000, 1030 / 3000, 1022 / 3000, 1003 / 2978, 1002 / 3000, 985 / 3000, 984 / 3000, 946 / 3000, 930 / 3000, 917 / 3000, 908 / 3000, 905 / 3000, 900 / 3000, 863 / 2978, 869 / 3000, 826 / 3000, 808 / 3000, 779 / 2997, 776 / 3000, 768 / 3000, 755 / 3000, 749 / 3000, 699 / 3000, 671 / 3000, 620 / 3000, 611 / 3000, 609 / 3000, 595 / 3000, 567 / 3000, 543 / 2972, 534 / 3000, 508 / 2998, 485 / 3000, 471 / 3000, 444 / 2979, 444 / 3000, 443 / 3000, 439 / 2988, 406 / 3000, 392 / 3000, 376 / 2980, 369 / 3000, 356 / 3000, 351 / 2987, 346 / 3000, 341 / 3000, 340 / 3000, 319 / 2972, 313 / 2975, 303 / 3000, 258 / 3000, 250 / 3000, 239 / 2979, 211 / 2990, 198 / 2979, 191 / 3000, 191 / 3000, 179 / 3000, 169 / 3000, 162 / 3000, 161 / 2999, 137 / 3000, 105 / 3000, 100 / 3000, 75 / 3000, 49 / 3000, 35 / 3000, 12 / 3000, 10 / 3000, 5 / 3000, 2 / 3000, 0 / 3000, 0 / 3000, 0 / 3000, 0 / 3000 ]
result = stats.kstest(
percentiles,
stats.uniform(loc=0, scale=1).cdf,
alternative="two-sided",
)
print(f"n={len(percentiles)} statistic={result.statistic:.5f} p={result.pvalue:.5f}")
if result.pvalue < 0.05:
print("Difference is significant")
else:
print("Difference is not significant")
When we run the above script, we get
n=245 statistic=0.10330 p=0.00993
Difference is significant
Perhaps that's not entirely unsurprising. The traits are in fact not independent. For example, some of the papers test for the same or similar traits e.g. Autism spectrum disorder (Matoba, 2020), and Autism (Grove, 2019). We expect the percentile values in those cases to be correlated, and indeed I score high on both (th and nd, respectively). Furthermore, some distinct medical conditions are highly correlated, for example autism and bipolar Disorder. My risk of bipolar is in the th percentile.
Floating point analysis
The percentiles I got from Nebula's API were in floating point form, between and .
[ 0.0, 0.0, 0.0, 0.0, 0.0006666666666666666, 0.0016666666666666668, 0.003333333333333333, 0.004, 0.011666666666666667, 0.01633333333333333, 0.025, 0.03333333333333333, 0.035, 0.04566666666666667, 0.05368456152050684, 0.054, 0.05633333333333333, 0.059666666666666666, 0.06366666666666666, 0.06366666666666666, 0.06646525679758308, 0.0705685618729097, 0.08022826451829473, 0.08333333333333333, 0.086, 0.101, 0.10521008403361344, 0.10733512786002691, 0.11333333333333333, 0.11366666666666667, 0.11533333333333333, 0.11750920656176767, 0.11866666666666667, 0.123, 0.1261744966442953, 0.13066666666666665, 0.13533333333333333, 0.1469210174029451, 0.14766666666666667, 0.148, 0.14904330312185296, 0.157, 0.16166666666666665, 0.1694462975316878, 0.178, 0.18270524899057874, 0.189, 0.19833333333333333, 0.203, 0.20366666666666666, 0.20666666666666667, 0.22366666666666668, 0.233, 0.24966666666666668, 0.25166666666666665, 0.256, 0.25866666666666666, 0.2599265932599266, 0.2693333333333333, 0.2753333333333333, 0.2896666666666667, 0.28979180658159837, 0.3, 0.3016666666666667, 0.30266666666666664, 0.30566666666666664, 0.31, 0.31533333333333335, 0.328, 0.3283333333333333, 0.334, 0.33680322364002685, 0.3406666666666667, 0.3433333333333333, 0.3456666666666667, 0.348, 0.3484848484848485, 0.3506666666666667, 0.3519140362659503, 0.362, 0.36566666666666664, 0.368, 0.377, 0.38166666666666665, 0.391, 0.393, 0.3933333333333333, 0.4033333333333333, 0.4146586345381526, 0.4196666666666667, 0.4215456674473068, 0.426, 0.42966666666666664, 0.43566666666666665, 0.43833333333333335, 0.44266666666666665, 0.446, 0.447, 0.4573333333333333, 0.461, 0.46166666666666667, 0.4646666666666667, 0.465, 0.4713333333333333, 0.474, 0.4756666666666667, 0.47633333333333333, 0.479, 0.4796666666666667, 0.48133333333333334, 0.49233333333333335, 0.49732620320855614, 0.5056666666666667, 0.5095413458319384, 0.5144005358338914, 0.5208754208754208, 0.526, 0.532, 0.5373333333333333, 0.5376666666666666, 0.5383333333333333, 0.5443333333333333, 0.5462128795462129, 0.5526666666666666, 0.5595837529372273, 0.5636666666666666, 0.5643333333333334, 0.5686666666666667, 0.579, 0.5856666666666667, 0.59, 0.5973333333333334, 0.6046666666666667, 0.6053333333333333, 0.6086666666666667, 0.6143333333333333, 0.6156666666666667, 0.6248331108144193, 0.6253333333333333, 0.631, 0.6336666666666667, 0.6363333333333333, 0.649, 0.6516666666666666, 0.6556666666666666, 0.6623333333333333, 0.6710086840347361, 0.677, 0.6813333333333333, 0.6843333333333333, 0.692, 0.6979550787797519, 0.701, 0.7016666666666667, 0.7156666666666667, 0.7176666666666667, 0.721, 0.7213333333333334, 0.7256666666666667, 0.7256666666666667, 0.7356666666666667, 0.7446666666666667, 0.7486666666666667, 0.75, 0.7556666666666667, 0.759, 0.7639213071023675, 0.77, 0.771, 0.773, 0.7755918639546515, 0.7775167785234899, 0.797, 0.8023333333333333, 0.8126666666666666, 0.8133333333333334, 0.8216666666666667, 0.8226666666666667, 0.8236666666666667, 0.8283333333333334, 0.8333333333333334, 0.8356666666666667, 0.8362905925677938, 0.8388179986568166, 0.839, 0.8426666666666667, 0.845, 0.8482827609203067, 0.855, 0.8616666666666667, 0.8653074866310161, 0.8683333333333333, 0.8733333333333333, 0.8768869506876887, 0.8843333333333333, 0.8856666666666667, 0.8876666666666667, 0.888, 0.8913333333333333, 0.8959382343068144, 0.898, 0.8988915015115888, 0.904, 0.9082969432314411, 0.9096666666666666, 0.9096666666666666, 0.9183333333333333, 0.9193333333333333, 0.9213333333333333, 0.9213333333333333, 0.9219479653102068, 0.922, 0.936, 0.9363333333333334, 0.9377510040160643, 0.938, 0.9433333333333334, 0.9433333333333334, 0.944, 0.9543333333333334, 0.9566666666666667, 0.9576666666666667, 0.9593333333333334, 0.9593333333333334, 0.961, 0.9646666666666667, 0.9666666666666667, 0.9666666666666667, 0.9680993955674949, 0.9761664988251091, 0.9772346836290593, 0.9843333333333333, 0.9863333333333333, 0.9893333333333333, 0.9926666666666667, 0.996, 0.998, 0.9986666666666667, 0.999, 0.9996666666666667, 1.0, 1.0, 1.0, 1.0, 1.0 ]
The floating point numbers don't seem to be rounded, so we can convert them back into fractions . The following Rust script tries all combinations for , and .
const PERCENTILES: [f64; 245] = [0.0, 0.0, 0.0, 0.0, 0.0006666666666666666, 0.0016666666666666668, 0.003333333333333333, 0.004, 0.011666666666666667, 0.01633333333333333, 0.025, 0.03333333333333333, 0.035, 0.04566666666666667, 0.05368456152050684, 0.054, 0.05633333333333333, 0.059666666666666666, 0.06366666666666666, 0.06366666666666666, 0.06646525679758308, 0.0705685618729097, 0.08022826451829473, 0.08333333333333333, 0.086, 0.101, 0.10521008403361344, 0.10733512786002691, 0.11333333333333333, 0.11366666666666667, 0.11533333333333333, 0.11750920656176767, 0.11866666666666667, 0.123, 0.1261744966442953, 0.13066666666666665, 0.13533333333333333, 0.1469210174029451, 0.14766666666666667, 0.148, 0.14904330312185296, 0.157, 0.16166666666666665, 0.1694462975316878, 0.178, 0.18270524899057874, 0.189, 0.19833333333333333, 0.203, 0.20366666666666666, 0.20666666666666667, 0.22366666666666668, 0.233, 0.24966666666666668, 0.25166666666666665, 0.256, 0.25866666666666666, 0.2599265932599266, 0.2693333333333333, 0.2753333333333333, 0.2896666666666667, 0.28979180658159837, 0.3, 0.3016666666666667, 0.30266666666666664, 0.30566666666666664, 0.31, 0.31533333333333335, 0.328, 0.3283333333333333, 0.334, 0.33680322364002685, 0.3406666666666667, 0.3433333333333333, 0.3456666666666667, 0.348, 0.3484848484848485, 0.3506666666666667, 0.3519140362659503, 0.362, 0.36566666666666664, 0.368, 0.377, 0.38166666666666665, 0.391, 0.393, 0.3933333333333333, 0.4033333333333333, 0.4146586345381526, 0.4196666666666667, 0.4215456674473068, 0.426, 0.42966666666666664, 0.43566666666666665, 0.43833333333333335, 0.44266666666666665, 0.446, 0.447, 0.4573333333333333, 0.461, 0.46166666666666667, 0.4646666666666667, 0.465, 0.4713333333333333, 0.474, 0.4756666666666667, 0.47633333333333333, 0.479, 0.4796666666666667, 0.48133333333333334, 0.49233333333333335, 0.49732620320855614, 0.5056666666666667, 0.5095413458319384, 0.5144005358338914, 0.5208754208754208, 0.526, 0.532, 0.5373333333333333, 0.5376666666666666, 0.5383333333333333, 0.5443333333333333, 0.5462128795462129, 0.5526666666666666, 0.5595837529372273, 0.5636666666666666, 0.5643333333333334, 0.5686666666666667, 0.579, 0.5856666666666667, 0.59, 0.5973333333333334, 0.6046666666666667, 0.6053333333333333, 0.6086666666666667, 0.6143333333333333, 0.6156666666666667, 0.6248331108144193, 0.6253333333333333, 0.631, 0.6336666666666667, 0.6363333333333333, 0.649, 0.6516666666666666, 0.6556666666666666, 0.6623333333333333, 0.6710086840347361, 0.677, 0.6813333333333333, 0.6843333333333333, 0.692, 0.6979550787797519, 0.701, 0.7016666666666667, 0.7156666666666667, 0.7176666666666667, 0.721, 0.7213333333333334, 0.7256666666666667, 0.7256666666666667, 0.7356666666666667, 0.7446666666666667, 0.7486666666666667, 0.75, 0.7556666666666667, 0.759, 0.7639213071023675, 0.77, 0.771, 0.773, 0.7755918639546515, 0.7775167785234899, 0.797, 0.8023333333333333, 0.8126666666666666, 0.8133333333333334, 0.8216666666666667, 0.8226666666666667, 0.8236666666666667, 0.8283333333333334, 0.8333333333333334, 0.8356666666666667, 0.8362905925677938, 0.8388179986568166, 0.839, 0.8426666666666667, 0.845, 0.8482827609203067, 0.855, 0.8616666666666667, 0.8653074866310161, 0.8683333333333333, 0.8733333333333333, 0.8768869506876887, 0.8843333333333333, 0.8856666666666667, 0.8876666666666667, 0.888, 0.8913333333333333, 0.8959382343068144, 0.898, 0.8988915015115888, 0.904, 0.9082969432314411, 0.9096666666666666, 0.9096666666666666, 0.9183333333333333, 0.9193333333333333, 0.9213333333333333, 0.9213333333333333, 0.9219479653102068, 0.922, 0.936, 0.9363333333333334, 0.9377510040160643, 0.938, 0.9433333333333334, 0.9433333333333334, 0.944, 0.9543333333333334, 0.9566666666666667, 0.9576666666666667, 0.9593333333333334, 0.9593333333333334, 0.961, 0.9646666666666667, 0.9666666666666667, 0.9666666666666667, 0.9680993955674949, 0.9761664988251091, 0.9772346836290593, 0.9843333333333333, 0.9863333333333333, 0.9893333333333333, 0.9926666666666667, 0.996, 0.998, 0.9986666666666667, 0.999, 0.9996666666666667, 1.0, 1.0, 1.0, 1.0, 1.0];
/// Canonicalizes a fraction to make the denominator as close to `3000` as
/// possible. For example, convert `2 / 1500` into `4 / 3000`.
fn canonicalize_fraction(a: u32, b: u32) -> (u32, u32) {
let mut multiplier = 0;
while b * (multiplier + 1) <= 3000 {
multiplier += 1;
}
(a * multiplier, b * multiplier)
}
/// Find the lowest index where inserting `needle` would keep `haystack` sorted.
fn binary_search_left(needle: f64, haystack: &[f64]) -> usize {
let mut lo = 0;
let mut hi = haystack.len();
while lo < hi {
let mid = lo + (hi - lo) / 2;
if haystack[mid] < needle {
lo = mid + 1;
} else {
hi = mid;
}
}
lo
}
fn main() {
let mut fractions = [None; PERCENTILES.len()];
// Try to convert the precentiles in the `PERCENTILES` array into fractions
// `a / b` where `a` and `b` are integers `a <= b`. We try every combination
// of `a` and `b` where `b < n`, with a binary search to speed things up.
// This naive approach works fine for small inputs like ours.
for b in 1..100000 {
for a in 0..=b {
let a_div_b = a as f64 / b as f64;
let mut idx = binary_search_left(a_div_b, &PERCENTILES);
let wanted_bytes = a_div_b.to_ne_bytes();
while idx < PERCENTILES.len() {
let percentile = PERCENTILES[idx];
if percentile > a_div_b {
break;
}
if percentile.to_ne_bytes() == wanted_bytes && fractions[idx].is_none() {
fractions[idx] = Some(canonicalize_fraction(a, b));
}
idx += 1;
}
}
}
// Print the results
let parts: Vec<String> = (0..fractions.len())
.rev()
.map(|i| match fractions[i] {
Some((a, b)) => {
if a == b {
"1".to_owned()
} else {
format!("{} / {}", a, b)
}
}
None => PERCENTILES[i].to_string(),
})
.collect();
println!("[ {} ]", parts.join(", "));
}
Running the above script yields
[ 1, 1, 1, 1, 1, 2999 / 3000, 2997 / 3000, 2996 / 3000, 2994 / 3000, 2988 / 3000, 2978 / 3000, 2968 / 3000, 2959 / 3000, 2953 / 3000, 2919 / 2987, 2908 / 2979, 2883 / 2978, 2900 / 3000, 2900 / 3000, 2894 / 3000, 2883 / 3000, 2878 / 3000, 2878 / 3000, 2873 / 3000, 2870 / 3000, 2863 / 3000, 2832 / 3000, 2830 / 3000, 2830 / 3000, 2814 / 3000, 2802 / 2988, 2809 / 3000, 2808 / 3000, 2766 / 3000, 2764 / 2998, 2764 / 3000, 2764 / 3000, 2758 / 3000, 2755 / 3000, 2729 / 3000, 2729 / 3000, 2704 / 2977, 2712 / 3000, 2676 / 2977, 2694 / 3000, 2669 / 2979, 2674 / 3000, 2664 / 3000, 2663 / 3000, 2657 / 3000, 2653 / 3000, 2614 / 2981, 2620 / 3000, 2605 / 3000, 2589 / 2992, 2585 / 3000, 2565 / 3000, 2544 / 2999, 2535 / 3000, 2528 / 3000, 2517 / 3000, 2498 / 2978, 2498 / 2987, 2507 / 3000, 2500 / 3000, 2485 / 3000, 2471 / 3000, 2468 / 3000, 2465 / 3000, 2440 / 3000, 2438 / 3000, 2407 / 3000, 2391 / 3000, 2317 / 2980, 2326 / 2999, 2319 / 3000, 2313 / 3000, 2310 / 3000, 2291 / 2999, 2277 / 3000, 2267 / 3000, 2250 / 3000, 2246 / 3000, 2234 / 3000, 2207 / 3000, 2177 / 3000, 2177 / 3000, 2164 / 3000, 2163 / 3000, 2153 / 3000, 2147 / 3000, 2105 / 3000, 2103 / 3000, 2082 / 2983, 2076 / 3000, 2053 / 3000, 2044 / 3000, 2031 / 3000, 2009 / 2994, 1987 / 3000, 1967 / 3000, 1955 / 3000, 1947 / 3000, 1909 / 3000, 1901 / 3000, 1893 / 3000, 1876 / 3000, 1872 / 2996, 1847 / 3000, 1843 / 3000, 1826 / 3000, 1816 / 3000, 1814 / 3000, 1792 / 3000, 1770 / 3000, 1757 / 3000, 1737 / 3000, 1706 / 3000, 1693 / 3000, 1691 / 3000, 1667 / 2979, 1658 / 3000, 1637 / 2997, 1633 / 3000, 1615 / 3000, 1613 / 3000, 1612 / 3000, 1596 / 3000, 1578 / 3000, 1547 / 2970, 1536 / 2986, 1522 / 2987, 1517 / 3000, 1488 / 2992, 1477 / 3000, 1444 / 3000, 1439 / 3000, 1437 / 3000, 1429 / 3000, 1427 / 3000, 1422 / 3000, 1414 / 3000, 1395 / 3000, 1394 / 3000, 1385 / 3000, 1383 / 3000, 1372 / 3000, 1341 / 3000, 1338 / 3000, 1328 / 3000, 1315 / 3000, 1307 / 3000, 1289 / 3000, 1278 / 3000, 1260 / 2989, 1259 / 3000, 1239 / 2988, 1210 / 3000, 1180 / 3000, 1179 / 3000, 1173 / 3000, 1145 / 3000, 1131 / 3000, 1104 / 3000, 1097 / 3000, 1086 / 3000, 1048 / 2978, 1052 / 3000, 1035 / 2970, 1044 / 3000, 1037 / 3000, 1030 / 3000, 1022 / 3000, 1003 / 2978, 1002 / 3000, 985 / 3000, 984 / 3000, 946 / 3000, 930 / 3000, 917 / 3000, 908 / 3000, 905 / 3000, 900 / 3000, 863 / 2978, 869 / 3000, 826 / 3000, 808 / 3000, 779 / 2997, 776 / 3000, 768 / 3000, 755 / 3000, 749 / 3000, 699 / 3000, 671 / 3000, 620 / 3000, 611 / 3000, 609 / 3000, 595 / 3000, 567 / 3000, 543 / 2972, 534 / 3000, 508 / 2998, 485 / 3000, 471 / 3000, 444 / 2979, 444 / 3000, 443 / 3000, 439 / 2988, 406 / 3000, 392 / 3000, 376 / 2980, 369 / 3000, 356 / 3000, 351 / 2987, 346 / 3000, 341 / 3000, 340 / 3000, 319 / 2972, 313 / 2975, 303 / 3000, 258 / 3000, 250 / 3000, 239 / 2979, 211 / 2990, 198 / 2979, 191 / 3000, 191 / 3000, 179 / 3000, 169 / 3000, 162 / 3000, 161 / 2999, 137 / 3000, 105 / 3000, 100 / 3000, 75 / 3000, 49 / 3000, 35 / 3000, 12 / 3000, 0.003333333333333333, 5 / 3000, 2 / 3000, 0 / 3000, 0 / 3000, 0 / 3000, 0 / 3000 ]
As can be seen, most of the denominators are . The size of the population the percentiles are calculated against is thus rather than , as Nebula says. Every floating point number could be converted to a fraction except 0.003333333333333333, which from the context clearly corresponds to 10 / 3000.
Moreover, when the denominator is not , it is still not far away from it. My initial thought was that if other individuals have the same effect size as you for a trait, is the number of said individuals. However, knowing how the percentiles are calculated, I find that implausible. It's more likely that Nebula is simply filtering a few people out for certain traits—maybe when a quality check fails.
I emailed Nebula on the topic of whether percentiles are calculated against a population of or . They had the following to say:
Them: The percentiles are relative to the polygenic scores of 5,000 Nebula users. Can you tell me more about where you see 3,000?
Me: I go into that in detail in section 4.2 (“Floating point analysis”). Basically, it boils down to decimal percentile values like e.g. 0.99966666… cleanly factoring into the fraction 2999 / 3000, but not corresponding to any fraction with a denominator of 5000. The blog post includes a program which does the conversion I speak of. In summary, Nebula doesn’t say anywhere that you compare the polygenic scores to 3000 people, but I think I can tell from the percentile numbers I’m seeing.
Them: [...] Per our geneticist: "The percentile is relative to the scores of 5,000 Nebula users. The list of variants and their effect size are taken from the study."
I'm still not convinced, although I'm open to being wrong.
Testable traits: What came true, and what didn't
Many of the papers in Nebula's report try to predict something about the future. For example the risk of getting a certain type of cancer, or the length of one's healthspan. We unfortunately can't make any judgement about the accuracy of predictions about the future, since the future hasn't happened yet. However, many of the papers instead predict something about the past or present. Some of these predictions are easily testable. Below, I discuss the predictions which I tested.
Blood test
My three highest effect size sums in Nebula's report are for Apolipoprotein B level, Testesterone level, and Vitamin D level. In fact, for these traits there is not a single person out of the population with a higher polygenic score.
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Higher Apolipoprotein B level | Richardson, 2020 | ||
| Higher testosterone level | Ruth, 2020 | ||
| Higher vitamin D level | Manousaki, 2020 | ||
| Higher 25-hydroxyvitamin D levels | Revez, 2020 | ||
| Higher Apolipoprotein A-1 level | Richardson, 2020 |
These traits all relate to how much of a certain molecule there is in my blood. Thus, I decided it would be interesting to take a blood test to measure my levels of the aforementioned molecules and others. The values I got can be seen below. I took one test in May of 2022, and another in March of 2023, so there are two values for many of the metrics.
| Metric | Reference | My values | Unit | Percentile | |
|---|---|---|---|---|---|
| Apo B/Apo A1 ratio | Ratio | ||||
| Apolipoprotein A1 |
| ||||
| Apolipoprotein B |
| ||||
| Testosterone |
| ||||
| Vitamin D25 |
| ||||
Methodology
The reference range shown in the table is sourced from the blood test company, and reflects the distribution of values which are thought to be healthy or safe for an individual, not neccesarily what is most common. Thus, I have searched the scientific literature for statistics on how my levels compare to the population at large. The results from that can be seen in the percentile column, and is hopefully more directly comparable to Nebula's percentiles.
Unfortunately, a lot of studies collect data on hundreds of test subjects, but only publish a few summary statistics such as means, medians, and confidence intervals, thus throwing away most of the information. The studies I looked at only published numbers for certain percentile values, commonly . Linear interpolation was used to get an estimate for my own value, so don't trust all the significant digits you see in the percentile column.
For the (literally speaking 😁) love of humanity, if you ever find yourself publishing a scientific article, please publish the raw data for readers to download. Otherwise you are severely limiting the scope of any derivative works.
Apolipoproteins, Testesterone level, and Vitamin D
Remember, for Apo B, testesterone, and Vitamin D, I supposedly have the most extreme predisposition to high levels, out of eveyone in the sample.
At the time of my first blood test, I was using Vitamin D supplements since I live in Stockholm. This resulted in a high Vitamin D concentration in the percentile of a population of Iranians, and the percentile compared to Europeans. During my second blood test, I was not using Vitamin D supplements, which brought my levels down to the and percentiles, compared to Iranians and Europeans respectively. Since Stockholm is in Northern Europe and doesn't get a lot of sun, is a higher number than you might expect.
In terms of testesterone, my first test placed me in the dead middle of both the reference range and study percentile (). The second test showed a higher value in the percentile. I'm not going to lie, I was kind of hoping that lying dormant in me was some kind of super athletic could-have-been-olympian. Alas, that is not the case; my blood testesterone is not as high as you might expect from the genetics. Just a bit above the median.
My Apolipoprotein B levels are where the blood test really starts to contradict the genetics. I'm on the lower end of the reference range. The study I looked at places me in the and percentiles for the first and second blood tests, respectively. Take that with a grain of salt however, since Apolipoprotein B levels increase with age (Schaefer, 1994), and the study's population included people up to age 30.
That said, my Apolipoprotein A1 levels were also on the lower end ( and percentiles), and when predicting risk of cardiovascular disease, the ratio of the levels of ApoA1 and ApoB is often taken (Tamang, 2014). Because the levels of both proteins were on the lower side, my ApoA1/ApoB ratio is higher than it would otherwise be if only my ApoB level was low.
Cholesterol
Nebula predicts a higher than average genetic predisposition to high blood fats content:
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Higher HDL cholesterol level | Richardson, 2020 | ||
| Higher LDL cholesterol level | Richardson, 2020 | ||
| Higher triglyceride level | Richardson, 2020 |
I found a study whose sample population is representative of myself. The blood fat content at the time both of my samples were taken is significantly below the median—contradicting the genetic prediction:
| Metric | Reference | My values | Unit | Percentile | |
|---|---|---|---|---|---|
| HDL-Cholesterol |
| ||||
| LDL-Cholesterol |
| ||||
| Triglycerides |
| ||||
I'm no nutritionist, but apparently LDL cholesterol is supposed to be bad, and HDL cholesterol is supposed to be good. My first test gave me more LDL than HDL, but the trend is reversed in the more recent March 2023 test. I'm in significantly better shape now than I was one year ago, which could have something to do with it.
Vitamin B₁₂
Also interesting are my Vitamin B₁₂ (Cobalamin) levels.
| Metric | Reference | My values | Unit | Percentile | |
|---|---|---|---|---|---|
| Cobalamin | |||||
They're technically in the recommended range of . However, at the time of my first test the doctor was concerned still concerned about it, and recommended I consume more Vitamin B₁₂. Vitamin B₁₂ comes mosly from meat and other animal sources. My diet is very much not vegan, so it's surprising to have low Vitamin B₁₂ levels.
I knew that my mom and little brother have some kind of vitamin deficiency that they need periodic injections for. I asked my mom about it, and lo and behold, that Vitamin is also B₁₂! Is there some kind of genetic inability to process Vitamin B₁₂ that runs in the family?
I will look into this further at a later time, using information derived from my mom being sequenced.
All results
Below is the full table of my blood test results, in case you are interested.
| Category | Metric | Reference | My values | Unit | Percentile | |
|---|---|---|---|---|---|---|
| Blood fats | Apo B/Apo A1 ratio | Ratio | ||||
| Blood fats | Apolipoprotein A1 |
| ||||
| Blood fats | Apolipoprotein B |
| ||||
| Blood fats | Cholesterol |
| ||||
| Blood fats | HDL-Cholesterol |
| ||||
| Blood fats | LDL-Cholesterol |
| ||||
| Blood fats | LDL/HDL Cholesterol ratio | |||||
| Blood fats | Triglycerides |
| ||||
| Blood fats | non HDL-Cholesterol | |||||
| Blood status | EVF | |||||
| Blood status | Erythrocytes | |||||
| Blood status | Hemoglobin | |||||
| Blood status | Leukocytes | |||||
| Blood status | MCH | |||||
| Blood status | MCV | |||||
| Blood status | Platelets | |||||
| Blood sugar | C-Peptide | |||||
| Blood sugar | Glucose | |||||
| Blood sugar | HbA1c (IFCC) | |||||
| Body salts | Calcium | |||||
| Body salts | Chloride | |||||
| Body salts | Phosphate | |||||
| Body salts | Potassium | |||||
| Body salts | Sodium | |||||
| Infection & inflammation | CRP | |||||
| Iron status | Ferritin | |||||
| Iron status | Iron | |||||
| Iron status | TIBC | |||||
| Iron status | Transferrin | |||||
| Iron status | Transferrin saturation | Ratio | ||||
| Kidneys | Albumin | |||||
| Kidneys | Creatinine | |||||
| Kidneys | Cystatin C | |||||
| Kidneys | eGFR | |||||
| Liver | ALAT | |||||
| Liver | ALP | |||||
| Liver | ASAT | |||||
| Liver | GT | |||||
| Prostate | PSA | |||||
| Sex hormones | Testosterone |
| ||||
| Thyroid gland | Thyrotropin (TSH) | |||||
| Thyroid gland | Tyroxin (T4) | |||||
| Vitamins & minerals | Cobalamin | |||||
| Vitamins & minerals | Folate | |||||
| Vitamins & minerals | Homocysteine, total | |||||
| Vitamins & minerals | Magnesium | |||||
| Vitamins & minerals | Vitamin D25 |
| ||||
Blood type
Your blood type is determined by your genes. In fact, looking at just a few SNPs is enough to determine one's ABO and Rh blood type in most cases. Promethease has a feature where it predicts your ABO blood type. However, I couldn't make use of it at first since the VCF file I uploaded didn't contain calls for all the variants in question (because they matched the reference genome).
How to call variants manually
Because my VCF file didn't have calls for all the blood type SNPs Promethease needed, I decided to try determining my blood type manually. To determine whether you are type A, B, AB, or O, it's enough to know your values for rs8176719, rs8176746, and rs8176747. Likewise, by looking at rs590787 you can determine if you are Rh+ or Rh-.
Below is what I did to manually call my rs8176719 variant. The process for the other SNPs is similar.
- Go to the dbSNP page for the SNP in question, and find the SNP's position in the genome (e.g.
chr9:133257521-133257522).
- Open your genome in IGV (you can use Nebula's "Genome Browser" for this), and paste the above position string into the search box. Click the search icon.
- You will see a picture like this:
Each horizontal strip on the bottom is a single read by the DNA sequencing machine. If a read matches the reference genome at a given location, the bar is just gray. However, if there is a mismatch between the reference genome and the read, a symbol or letter is displayed at that location. - You can see that at the
rs8176719position in the middle, there are purple ticks for approximately half the reads.
Each purple tick corresponds to the insertion of an additional nucleotide, compared to the reference genome. Likewise, the letter on one of the horizontal bars indicates that the read found a at that position, rather than the reference genome's . In this case, the other reads all disagree, so it's likely a fluke. - Click on the nucleotide of interest to get an aggregation of the reads.
Recall that you inherit two copies of each nucleotide, one from each parent. If you get the same nucleotide at a location from both parents, you are homozygous at said location. Otherwise, if the nucleotides you inherit from your parents are different, you are heterozygous. There are usually only two possible nucleotides at a location, e.g. a choice between /, or /. Because always binds with , and always binds with , different sources may report on a SNP differently, depending on which of the two DNA strands is looked at.
In physical terms, half of the reads the sequencing machine makes will be of your mothers's copy of a DNA letter, and the other half your father's. If you are heterozygous at that location, half of the reads will be one letter, and the other half another letter. That's exactly what we saw in the text above for rs8176719.
Derivation
The following table (derived from an online spreadsheet) can be used to find your blood type.
rs8176719 | rs8176746 | rs8176747 | Alleles | Blood type |
|---|---|---|---|---|
| OO | Type O | |||
| AO | Type A | |||
| AA | Type A | |||
| BO or AO | Type B (more likely), or Type A (less likely) | |||
| BO | Type B | |||
| BB | Type B | |||
| AB | Type AB |
The rs8176719 SNP decides if you are in group O or not. People either have a at its position, or nothing—the letter is deleted. If you inherit a deletion from both parents, you have blood type O. If you inherit a from both parents, you can be A, B, or O. If you are heterozygous like me, you are either type A or B.
For the other two SNPs, I followed the same method as above to find that I am for rs8176746 and for rs8176747. That gives me the AO genotype, which has type A blood. However, I could have children with type O blood if the other contributor of genetic material has OO, AO, or BO genotypes. Furthermore, I am for rs590787, which means my blood is Rhesus positive.
Putting it to the test!
By browsing the genome viewer, we hypothesised I have type A positive blood. To confirm this, I bought an at-home blood typing card from Eldon Biologicals. The card contains four circles. On three of the circles, there are antibodies for A, B, and D antigens respectively. The fourth circle is a control circle with no antibodies.
The picture above shows my test. The blood inside the Anti-A and Anti-D circles has agglutinated, which indicates that a reaction between the antibodies and antigens has taken place. The Anti-B and control circles do not show agglutination. Thus, the test confirms our genetic analysis; my blood type is truly A positive.
Neurodivergency and mental illness
Beyond blood, there are many traits on Nebula relating to neurodivergency and mental illness. We examine those below.
ASD
As a kid I was diagnosed with Asperger's syndrome. Asperger's has since ceased to be recognized as a diagnosis, when in 2013 it was merged with Autism Spectrum Disorder (ASD). It is thus no surprise that my polygenic score for ASD is in the and percentiles for the two studies Nebula reports on.
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Autism spectrum disorder | Matoba, 2020 | ||
| Autism | Grove, 2019 |
One of the ways ASD manifests in me today is through special interests.
Bipolar
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Bipolar disorder | Mullins, 2021 | ||
| Bipolar disorder | Mühleisen, 2014 |
My polygenic score for Bipolar Disorder (BD) is scarily high. Nebula has two studies, one lower powered study from 2014 which only found variants, and a more recent and powerful 2021 study which found variants. Unfortunately, it is the higher powered study for which I have a percentile polygenic score.
I have not been diagnosed with Bipolar disorder, and haven't noticed any of the symptoms I read about online. However, what worries me is that I'm only 22 years old, and around half of people are diagnosed after said age. Thankfully, it is early onset Bipolar Disorder which is thought to be more heritable than late onset BD (Bolton, 2020).
Anorexia
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Anorexia | Watson, 2019 |
This study found 8 variants which increase the risk of anorexia. I have every single one of them! That's not suprising, since I had anorexia as a child, 11-12 years old or so. Now I'm fine, don't worry.
Miscellaneous
Handedness
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Left-handedness | Cuellar-Partida, 2020 | ||
| Left-handedness | Wiberg, 2019 |
I have a very low polygenic score for left handedness. That's appropriate, since I'm right handed. However, my dad is left handed, and I hold my fork in my right hand and knife in the left.
Gallstones
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Gallstones | Ferkingstad, 2018 | ||
| Gallstones | Fairfield, 2021 |
I have rs11887534(C;C) which both studies find is by far the most significant SNP for predicting gallstones. I'm not suprised, since my Dad had gallstones. However, it's interesting to note that one of the studies gives me a very low polygenic score, while the other gives me a high score. I'm not sure what that is about.
Height
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Taller stature | Wood, 2014 |
I'm 191 centimeters. That makes me shorter than my dad, but taller than of Icelanders and of Americans in the same age group. That lines up nicely with the I get from Nebula, whose population of presumably includes people from all nationalities and ethnicities.
Birth weight
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Heavier birth weight | Horikoshi, 2017 |
I found some old documents, and discovered I was grams at birth. That's above the CDC's percentile value of grams. A calculator based on WHO data puts me in the percentile.
Waist-to-hip ratio
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Higher waist-to-hip ratio | Lotta, 2018 |
Performing my own measurement at the time of writing, my waist is , and hips are between and . That gives me a waist-to-hip ratio of . A professionally done measurement from one year ago resulted in a waist of , hips of , and a ratio of .
It is difficult to find good data on where that places me on a percentile basis compared to the population at large. Compared to Greek 17 year old males (Bacopoulou, 2015), my waist-to-hip ratio is above 90th percentile. Another study gives aggregated results for males aged 35-64 (Molarius, 1999), which places me closer to the 10th percentile.
Mosquito bite frequency
| ▲Percentile | Trait | Number of variants | Study |
|---|---|---|---|
| Fewer mosquito bites | Jones, 2017 |
Iceland doesn't have mosquitoes (one more reason you should travel there!), so I've only lived in a country with mosquitoes for two years now. That said, I've not been bitten at all so far, despite the people around me getting numerous bites. So there is no evidence which contradicts me having a lower mosquito bite frequency, so far.
Conclusion
If you are interested in molecular biology or genetics, I believe getting your genome sequenced can be very fun! I used Nebula Genomics, and can definitely recommend them to others. For highly heritable traits like height and mental disorders, insights derived from genome-wide association studies were highly accurate in my case. The predictions were less accurate for blood molecule levels. You get a lot of information in your hands, some of which you have to be careful when interpreting. Finally, remember that you had no control over the string of genetic letters you were born with, and there is no use in worrying about what could have been in the past, or what might happen in the future.
In a later blog post, I intend to write about the results from my mother's and grandfather's sequencing results. Stay tuned?