Whole-exome sequencing in individuals with obsessive-compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes.

Whole-exome sequencing of 3,964 individuals with obsessive-compulsive disorder and chronic tic disorders identifies 36 high-confidence large-effect risk genes (false discovery rate < 0.1).

• Why it matters: OCD and CTDs are highly heritable, yet only four high-confidence risk genes were previously known, limiting mechanistic insight into rare, large-effect variants.
• What they did: The study analyzed whole-exome sequencing from 3,964 people, including 2,418 trios, testing for excess de novo and rare protein-damaging mutations and calling 36 high-confidence genes.
• The result: The 36 genes include four previously identified loci and four overlapping with OCD genome-wide association study signals, and transcriptomic/network analyses suggest increased risk gene expression in postnatal cerebellum, prenatal and postnatal cortex, and striatum.

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