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DOI 10.1038/s41593-026-02419-5

Медицинская библиотека · Nature neuroscience · 2026

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

Wang Belinda, Tran Matthew N, Wang Sheng, Liu Yuting, Olfson Emily, Wang George, Sun Nawei, Dea Jeanselle, Olwal Charles Ochieng', Bertolace Lyvia, Bloch Michael H, Cappi Carolina, Chang Yi-Chieh, Chavira Denise, Coffey Barbara J, Falkenstein Martha J, Frank Adam C, Franklin Martin E, Garayalde Stephanie, Garrido Helena, Grados Marco, Hatem Rami, Howell Allyna-London, Khim Starlette, Kuckertz Jennie M, Le Mindy M, Libby Allison, McCarty Ryan J, McNamara Mary E, McNeil Daniel, Miguel Euripedes C, Nasello Cara, Nguyen Binh, Norbu Tenzin, Oh Lauren, Ordway Ashley, Paciotti Catherine, Peskin Viviana A, Pittenger Christopher, Simpson Helen Blair, Simpson Martin Heather, Tischfield Max A, Xing Jinchuan, Zakrzewski Jessica J, Tourette International Collaborative Genetics (TIC Genetics), Dietrich Andrea, Gilbert Donald L, Hoekstra Pieter J, Kim Young Shin, Kuperman Samuel, Rosen Alyssa, Zinner Samuel H, Bouhaddou Mehdi, King Robert A, Rouleau Guy, Ressler Kerry J, Mathews Carol A, Krogan Nevan J, Sestan Nenad, Tischfield Jay A, Lee A Moses, Heiman Gary A, Fernandez Thomas V, Willsey A Jeremy, State Matthew W

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Аннотация

Obsessive-compulsive disorder (OCD) and chronic tic disorders (CTDs) are highly heritable. Rare mutations confer large risks for OCD and CTDs but only four high-confidence (hc) genes have been identified. Here we analyzed whole-exome sequencing data from 3,964 individuals with OCD, CTDs or both, including 2,418 trios. We found an excess in cases of de novo and rare protein-damaging mutations and identified 36 hc genes (false discovery rate < 0.1), including four previously identified hc genes (CELSR3, CHD8, SCUBE1 and WWC1) and four genes that overlap with OCD genome-wide association study loci (BRWD1, CELSR3, QRICH1 and SYNE1). Risk genes are shared among OCD, CTDs and other neurodevelopmental conditions. Transcriptomic and network analyses highlight mechanistic convergence and increased risk gene expression in postnatal cerebellum, prenatal and postnatal cortex and striatum. Dozens of large-effect OCD and CTD genes offer insights into pathogenesis and a path forward for illuminating pathophysiology and identifying novel treatment targets.

Для цитирования: Wang Belinda, Tran Matthew N, Wang Sheng, Liu Yuting, Olfson Emily, Wang George, Sun Nawei, Dea Jeanselle, Olwal Charles Ochieng', Bertolace Lyvia, Bloch Michael H, Cappi Carolina, Chang Yi-Chieh, Chavira Denise, Coffey Barbara J, Falkenstein Martha J, Frank Adam C, Franklin Martin E, Garayalde Stephanie, Garrido Helena, Grados Marco, Hatem Rami, Howell Allyna-London, Khim Starlette, Kuckertz Jennie M, Le Mindy M, Libby Allison, McCarty Ryan J, McNamara Mary E, McNeil Daniel, Miguel Euripedes C, Nasello Cara, Nguyen Binh, Norbu Tenzin, Oh Lauren, Ordway Ashley, Paciotti Catherine, Peskin Viviana A, Pittenger Christopher, Simpson Helen Blair, Simpson Martin Heather, Tischfield Max A, Xing Jinchuan, Zakrzewski Jessica J, Tourette International Collaborative Genetics (TIC Genetics), Dietrich Andrea, Gilbert Donald L, Hoekstra Pieter J, Kim Young Shin, Kuperman Samuel, Rosen Alyssa, Zinner Samuel H, Bouhaddou Mehdi, King Robert A, Rouleau Guy, Ressler Kerry J, Mathews Carol A, Krogan Nevan J, Sestan Nenad, Tischfield Jay A, Lee A Moses, Heiman Gary A, Fernandez Thomas V, Willsey A Jeremy, State Matthew W. Whole-exome sequencing in individuals with obsessive-compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes.. Nature neuroscience. 2026. DOI: 10.1038/s41593-026-02419-5.
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