Rutgers-led study identifies 36 genes linked to OCD and Tourette syndrome

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A Rutgers University-led study published in Nature Neuroscience identified 36 genes that raise the risk of obsessive-compulsive disorder and Tourette syndrome. The findings expand the number of known high-confidence risk genes from 4 to 36 and reveal shared genetic links with autism and schizophrenia.
Key Facts
- The study analyzed exome data from nearly 4,000 individuals diagnosed with OCD or tic disorders and their parents.
- 30 of the 36 identified risk genes are shared between OCD and Tourette syndrome.
- The risk genes are active in the cortico-striato-thalamo-cortical brain circuit, which governs impulse control, movement, and decision-making.
- The identified genes increase disease risk by an average of 57-fold, and up to 210-fold in extreme cases.
- Senior author Prof. Jay Tischfield stated the findings provide more than 30 targets for developing personalized and targeted new drugs.
Genetic Discovery
The study, led by Rutgers University and published in Nature Neuroscience, identified 36 genes that directly increase the risk of obsessive-compulsive disorder and Tourette syndrome. Previously, only 4 high-confidence genes were known to be associated with these two heritable disorders. Researchers analyzed exome data from nearly 4,000 individuals diagnosed with OCD or tic disorders and their parents. The analysis also incorporated brain maps from chimpanzees and mice to reveal the neural architecture underlying the disorders.
Shared Genetic Overlap
The data confirmed that 30 of the 36 risk genes function in both OCD and Tourette syndrome cases. Among patients with tic disorders, 50% exhibit obsessive behaviors, while 30% of OCD patients have a history of tics. The identified risk genes are not limited to OCD and Tourette syndrome; they also show strong links to autism spectrum disorder, developmental delays, and schizophrenia. These genes act in networks rather than individually, increasing disease risk by an average of 57-fold and up to 210-fold in extreme cases.
Therapeutic Implications
The findings indicate that the disorders stem from dysfunction in the cortico-striato-thalamo-cortical brain circuit, which governs impulse control, movement, decision-making, and information processing. Risk genes were found to be highly active in the cortex, striatum, thalamus, and cerebellum during prenatal and postnatal periods. Senior author Prof. Jay Tischfield noted that the pharmaceutical industry previously lacked sufficient targets to develop new treatments. Tischfield stated that the study provides more than 30 targets and their networks, opening a new chapter in medicine for developing personalized and targeted drugs.