{"cache":{"posts_f30bc_9b5fa":{"__typename":"RootQueryToPostConnection","nodes":[{"__typename":"Post","id":"cG9zdDozNDI2NQ==","databaseId":34265,"featuredImage":{"__typename":"NodeWithFeaturedImageToMediaItemConnectionEdge","node":{"__typename":"MediaItem","id":"cG9zdDozMjQ4MQ==","altText":"","mediaDetails":{"__typename":"MediaDetails","width":800,"height":800,"sizes_cad4b_bf21a":[{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-150x150.webp","name":"thumbnail"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-300x300.webp","name":"medium"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-768x768.webp","name":"medium_large"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-271x271.webp","name":"square_sm"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-372x372.webp","name":"square_md"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-574x574.webp","name":"square_lg"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-271x149.webp","name":"wide_sm"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-372x204.webp","name":"wide_md"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-574x315.webp","name":"wide_lg"},{"__typename":"MediaSize","sourceUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail-800x539.webp","name":"wide_xl"}]},"sourceUrl_772ce_bf21a":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail.webp","mediaItemUrl":"https://blog-api.23andme.com/wp-content/uploads/2024/01/Tx-Assets-Homepage-OurScience-Detail.webp","title_b28e9_bf21a":"Tx-Assets-Homepage-OurScience-Detail"}},"author":{"__typename":"NodeWithAuthorToUserConnectionEdge","node":{"__typename":"User","id":"dXNlcjo1","name":"23andMe"}},"date":"2025-09-24T09:36:02","uri":"/articles/a-major-leap-forward-in-understanding-the-genetics-of-ocd","title_b28e9_bf21a":"A Major Leap Forward in Understanding the Genetics of OCD","slug":"a-major-leap-forward-in-understanding-the-genetics-of-ocd","imageOptions":{"__typename":"Post_Imageoptions","featuredImageSquare":null,"singleTemplateFeaturedImage":"none"},"categories_3cd3e_bf21a":{"__typename":"PostToCategoryConnection","edges":[{"__typename":"PostToCategoryConnectionEdge","node":{"__typename":"Category","id":"dGVybToxNDU1","name":"Ancestry Service","slug":"ancestry-service","uri":"/category/ancestry-service","seo":{"__typename":"TaxonomySEO","title":"Research Archives - 23andMe Blog","opengraphTitle":"Research Archives","metaDesc":"23andMe research unique research model combines genetic and phenotypic information in what is among the largest databases of its kind.","opengraphDescription":"23andMe research unique research model combines genetic and phenotypic information in what is among the largest databases of its kind.","fullHead":"\n\n\n\n\n\n\n\n\n\n\t\n\t\n\t\n\n\n\n"}}}]},"content_b28e9_bf21a":"\n

Obsessive-compulsive disorder (OCD) is a complex and often debilitating condition that affects up to three percent of people, but the biological basis of the disorder has remained largely elusive. While we’ve known that genetics play a role, previous genetic studies have been limited by their relatively small sample size and have only identified a few of the specific genetic variants involved.

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But that is now changing.

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In a recent study, the largest of its kind ever conducted for OCD, researchers identified dozens of genetic variants associated with the disorder, offering unprecedented insight into its underlying biology.

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The Power of Numbers

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For complex conditions like OCD, genetic discovery is a numbers game. To find the subtle genetic variations that contribute to risk, scientists need to compare the DNA of vast numbers of people with and without the condition. This is where the research model of the 23andMe Research Institute makes a world of difference.

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This study combined data from 28 different cohorts. The result was a dataset of incredible scale, including 53,660 individuals with OCD and more than 2 million controls. Consented 23andMe research participants made up about half of the entire cohort in this study. This immense contribution, made possible by those who choose to participate in research, was critical to achieving the statistical power needed to make these new discoveries.

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What the Study Found

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By scanning the genomes of millions of individuals, the researchers identified 30 independent genetic variants that were significantly associated with OCD. Of these 30 genetic variants, half are entirely new discoveries, while the others confirm and strengthen findings from previous, smaller studies. Researchers mapped these genetic variants to 25 genes that are likely impacted by those variants.

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Zeroing In on the Brain

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Identifying the genes is just the first step. The next question is: where in the body do these genes do their work?

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$\"Brain$ \n\n\n\n

To find out, the researchers performed tissue and single-cell enrichment analyses. The results were striking. The genetic signals for OCD were highly enriched in six different types of human brain tissue. In contrast, there was no enrichment found in tissues outside the brain.

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The study drilled down even further, pinpointing specific cell types and found that these genes are at work in the same cells identified by neuroimaging and deep brain stimulation studies of OCD. By independently identifying these precise brain regions and cell types through genetics, this study provides additional supporting evidence that these genes and neurons play a direct role in the biology of OCD.

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Shared Genetics

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The study also investigated the genetic relationship between OCD and other psychiatric and behavioral conditions. The researchers found statistically significant positive genetic correlations between OCD and a range of other disorders, including anxiety, depression, anorexia nervosa, and Tourette syndrome

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This finding reinforces a growing body of evidence that many psychiatric conditions, while appearing different on the surface, are likely to share some underlying genetic susceptibility factors. Understanding this genetic overlap may be key to understanding mental health as a whole.

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A Foundation for the Future

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This study represents a pivotal moment for OCD research. By dramatically expanding the list of known genetic variants associated with OCD and grounding them in the specific biology of the brain, this work opens doors for researchers to explore the precise mechanisms by which these genes influence brain circuits and contribute to OCD symptoms.

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Ultimately, these findings may be a critical step toward developing novel and more effective treatments for a disorder that has long been misunderstood.

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And once again, we want to extend our deepest gratitude to 23andMe research participants. Your contribution to this landmark study has advanced our understanding of OCD and paved the way for a healthier future.

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In the most extensive genetic study of brain disorders to date, scientists have found a shared genetic basis for psychiatric disorders like schizophrenia and bipolar disorder. But the researchers also found that neurological brain disorders like Parkinson’s and Alzheimer’s disease are more distinct from one another.

The findings may change how scientists look at disorders of the brain, according to the lead author of the study Ben Neale, of the Broad Institute at MIT and Harvard. $\"\"$

“If we can uncover the genetic influences and patterns of overlap between different disorders, then we might be able to better understand the causes of these conditions — and potentially identify specific mechanisms appropriate for tailored treatments,” Neale said.

The Genetics of Psychiatric Disorders

Published in the journal Science, the findings could also change how psychiatric disorders are categorized, which in turn could inform the development of treatments for patients.

The researchers used a hypothetical example to explain this. It’s possible that a single genetic mechanism affects concentration. This, in turn, could play a role in both the lack of attention that is part of attention-deficit/hyperactivity disorder (ADHD), or the diminished executive function that is a cornerstone of schizophrenia. And the deeply connected nature of psychiatric disorders underscores the need to refine their diagnosis, according to the researchers involved in this study.

Psychiatric and Neurological Disorders

This massive study was led by the Broad Institute and funded in part by the National Institutes of Health, the Orion Farmos Research Foundation and the Fannie and John Hertz Foundation. The work included contributions from researchers at more than 600 institutions worldwide — as well as data from dozens of cohorts including from 23andMe customers who consented to participate in research. The researchers pooled this data to examine more than two-dozen different psychiatric and neurological disorders. In all data from more than a million individuals was used for this study.

“This was an unprecedented effort in sharing data, from hundreds of researchers all around the world, to improve our understanding of the brain,” said coauthor Verneri Anttila, a postdoctoral research fellow in Neale’s lab.

Large Amount of Data Needed for These Studies

The sheer size of this study allowed researchers to discern the sometimes small influence of individual genetic variations on specific conditions. That is because often many dozen or hundreds or even thousands of variants can contribute to risk for specific conditions. The study revealed extensive genetic overlap across different psychiatric disorders in particular between ADHD, bipolar disorder, major depressive disorder, and schizophrenia. The data also indicated strong overlap between anorexia nervosa and obsessive-compulsive disorder (OCD). Some of the findings confirm previous research.

Beyond just investigating the genetic associations that overlapped between conditions, the researchers also looked at the relationship between these conditions and 17 physical and cognitive measures. Among those are such things as the number of years of schooling, personality, smoking habits and BMI. The researchers found significant correlations between more years in school and ADHD, bipolar disorder and depression. But there those same cognitive and personality factors were negatively associated with neurological disorders like Alzheimer’s and Parkinson’s disease, according to the study.

Researchers said that they were surprised to find such a strong correlation between educational attainment and many psychiatric conditions. But the findings point toward potential future studies.

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In the movie Batman Begins, young Bruce Wayne attends the opera with his parents and becomes increasingly uncomfortable at the costumes that remind him of the bats he had encountered earlier that day.

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Image from: Don Pfitzer, US Fish and Wildlife Service

German and American scientists have now found that the gene variant rs4680 is associated with regulating such anxious reactions to emotional images.

With more research, study co-author Christian Montag noted in a statement, “it might be possible to prescribe the right dose of the right drug, relative to genetic makeup, to treat anxiety disorders.”

For the study, which appears online August 10 in the journal Behavioral Neuroscience, researchers measured the startle responses – blinking in reaction to unexpected loud noise – of 96 German women as they viewed various images. Each woman was shown happy images such as those of animals or family; threatening or fear-inducing images such as those of injured people or weapons; and emotionally neutral images like a hair dryer or power outlet. A few seconds after each image appeared, researchers randomly startled the women with short, loud blasts of white noise and recorded the their startle responses.

The researchers found when viewing unpleasant pictures, the startle response of women with an A at both copies of rs4680 was about six times stronger compared to those with only one A or none at all.

“This single gene variation is potentially only one of many factors influencing such a complex trait as anxiety,” said Montag in a statement. “Still, to identify the first candidates for genes associated with an anxiety-prone personality is a step in the right direction.”

The SNP is in the COMT gene, which is involved in regulating the “feel-good” hormone dopamine. It has also been linked with breast cancer risk – Asian-American women who have an A at one or both copies of rs4680 and also drink black or green tea appear to have a decreased chance of developing the disease. People with an A in both copies of rs4680 have been shown to break down dopamine less efficiently. Studies have also correlated the variant with behaviors such as obsessive-compulsive disorder.

The researchers think the stronger reaction to unpleasant images by people with two copies of the A version of rs4680 might be due to increased dopamine levels in some parts of the brain.

“Elevated dopamine in the prefrontal cortex could result in an inflexible attentional focus on aversive stimuli,” Montag and his colleagues wrote.

That’s a fancy way of saying that people with elevated dopamine in that part of the brain are more prone to respond like a deer in the headlights when faced with a potential threat. In their paper, the research suggest that evolution has created a trade-off. The A version of rs4680 appears to boost working memory and cognitive function compared to G – but it also hampers emotional control. Plus, being unable to take one’s eyes away from something unpleasant could be dangerous, especially if people stop paying attention to their surroundings.

Maybe that’s why Bruce Wayne chose to become a bat; having criminals momentarily distracted at the sight of something scary and terrifying might give him a valuable edge.

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OCD

A Major Leap Forward in Understanding the Genetics of OCD

Massive new study finds shared genetic basis for psychiatric disorders

Genetic Variant May Increase Risk for Anxiety Disorders

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