A major international study has provided the most compelling genetic evidence to date linking obsessive-compulsive disorder (OCD) to specific genes offering crucial insights into its underlying biological mechanisms. This large-scale genome-wide association study (GWAS) is a major step forward in understanding OCD and may lead to improved diagnostic tools and targeted treatments.
The research analyzed genetic data from more than 2 million individuals, including over 53,000 people clinically diagnosed with OCD. Scientists identified 30 genome-wide significant loci, regions of the genome associated with increased risk for OCD. From these loci, they pinpointed 251 potentially involved genes, with 25 genes standing out as having the strongest likelihood of being causally linked to OCD.
Among the top-priority genes identified were:
● WDR6 – involved in cellular processes and expressed in brain tissue.
● DALRD3 – associated with neuronal regulation and development.
● CTNND1 – known for its role in cell adhesion and signaling in the nervous system.
The study also discovered that many of the OCD-associated variants were highly expressed in excitatory neurons located in the cortex and hippocampus, key brain regions involved in emotion regulation, decision-making and memory. Additionally, strong expression was found in dopamine receptor-expressing neurons, reinforcing dopamine’s role in the pathophysiology of OCD.
Further analysis revealed that OCD shares genetic architecture with several other neuropsychiatric conditions, including anxiety disorders, depression, anorexia nervosa and Tourette syndrome. On the other hand, OCD showed negative genetic correlations with traits such as higher body mass index (BMI), inflammatory bowel disease (IBD), and higher educational attainment.
Researchers estimated that approximately 11,500 common genetic variants contribute to 90% of the heritability of OCD, emphasizing its complex polygenic nature. This means OCD is not caused by a single gene but rather by the combined effects of thousands of small genetic variations interacting with environmental and developmental factors.
The findings from this study open new doors for precision psychiatry by highlighting potential biomarkers for early detection and new therapeutic targets. With deeper knowledge of the genes involved, future treatments could be better tailored to individuals based on their genetic profiles, potentially reducing the trial-and-error process of current psychiatric care.
Disclaimer: This article is intended for informational and educational purposes only. It does not constitute medical advice, diagnosis or treatment. If you or someone you know is experiencing symptoms of OCD or any other mental health condition, please consult a qualified healthcare professional. Research findings are continuously evolving and interpretations may change as more data becomes available.