Cutting-edge genetics in obsessive-compulsive disorder

Leonardo Cardoso Saraiva, Carolina Cappi, Helen Blair Simpson, Dan J Stein, Biju Viswanath, Odile A van den Heuvel, Yc Janardhan Reddy, Euripedes C Miguel, Roseli G Shavitt

Research output: Contribution to journalReview articleAcademicpeer-review


This article reviews recent advances in the genetics of obsessive-compulsive disorder (OCD). We cover work on the following: genome-wide association studies, whole-exome sequencing studies, copy number variation studies, gene expression, polygenic risk scores, gene-environment interaction, experimental animal systems, human cell models, imaging genetics, pharmacogenetics, and studies of endophenotypes. Findings from this work underscore the notion that the genetic architecture of OCD is highly complex and shared with other neuropsychiatric disorders. Also, the latest evidence points to the participation of gene networks involved in synaptic transmission, neurodevelopment, and the immune and inflammatory systems in this disorder. We conclude by highlighting that further study of the genetic architecture of OCD, a great part of which remains to be elucidated, could benefit the development of diagnostic and therapeutic approaches based on the biological basis of the disorder. Studies to date revealed that OCD is not a simple homogeneous entity, but rather that the underlying biological pathways are variable and heterogenous. We can expect that translation from bench to bedside, through continuous effort and collaborative work, will ultimately transform our understanding of what causes OCD and thus how best to treat it.

Original languageEnglish
Pages (from-to)30
JournalFaculty reviews
Publication statusPublished - 2020

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