A burden of rare copy number variants in obsessive-compulsive disorder.

ABSTRACT: Current genetic research on obsessive-compulsive disorder (OCD) supports contributions to risk specifically from common single nucleotide variants (SNVs), along with rare coding SNVs and small insertion-deletions (indels). The contribution to OCD risk from rare copy number variants (CNVs), however, has not been formally assessed at a similar scale. Here we describe an analysis of rare CNVs called from genotype array data in 2248 deeply phenotyped OCD cases and 3608 unaffected controls from Sweden and Norway. Cases carry an elevated burden of CNVs ≥30 kb in size (OR = 1.12, P = 1.77 × 10^-3). The excess rate of these CNVs in cases versus controls was around 0.07 (95% CI 0.02-0.11, P = 2.58 × 10^-3). This signal was largely driven by CNVs overlapping protein-coding region

SUBMITTER: Halvorsen MW 

PROVIDER: S-EPMC11919692 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature