Genetics of obsessive-compulsive disorder

Behrang Mahjani, Katharina Bey, Julia Boberg, Christie Burton

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations

Abstract

Background Obsessive-compulsive disorder (OCD) is a psychiatric disorder with multiple symptom dimensions (e.g. contamination, symmetry). OCD clusters in families and decades of twin studies clearly demonstrate an important role for genetics in the etiology of the disorder. Methods In this review, we summarize the genetic epidemiology and molecular genetic studies of OCD and obsessive-compulsive symptoms. Results OCD is a heritable, polygenic disorder with contributions from both common and rare variants, including de novo deleterious variations. Multiple studies have provided reliable support for a large additive genetic contribution to liability to OCD, with discrete OCD symptom dimensions having both shared and unique genetic risks. Genome-wide association studies have not produced significant results yet, likely because of small sample sizes, but larger meta-analyses are forthcoming. Both twin and genome-wide studies show that OCD shares genetic risk with its comorbid conditions (e.g. Tourette syndrome and anorexia nervosa). Conclusions Despite significant efforts to uncover the genetic basis of OCD, the mechanistic understanding of how genetic and environmental risk factors interact and converge at the molecular level to result in OCD's heterogeneous phenotype is still mostly unknown. Future investigations should increase ancestral genetic diversity, explore age and/or sex differences in genetic risk for OCD and expand the study of pharmacogenetics, gene expression, gene × environment interactions and epigenetic mechanisms for OCD.

Original languageEnglish
Pages (from-to)2247-2259
Number of pages13
JournalPsychological Medicine
Volume51
Issue number13
DOIs
StatePublished - 25 Oct 2021

Keywords

  • Obsessive-compulsive disorder
  • genetic epidemiology
  • molecular genetics
  • obsessive-compulsive symptoms

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