De novo mutations identified by whole-genome sequencing implicate chromatin modifications in obsessive-compulsive disorder.

ABSTRACT: Obsessive-compulsive disorder (OCD) is a chronic anxiety disorder with a substantial genetic basis and a broadly undiscovered etiology. Recent studies of de novo mutation (DNM) exome-sequencing studies for OCD have reinforced the hypothesis that rare variation contributes to the risk. We performed, to our knowledge, the first whole-genome sequencing on 53 parent-offspring families with offspring affected with OCD to investigate all rare de novo variants and insertions/deletions. We observed higher mutation rates in promoter-anchored chromatin loops (empirical P = 0.0015) and regions with high frequencies of histone marks (empirical P = 0.0001). Mutations affecting coding regions were significantly enriched within coexpression modules of genes involved in chromatin modificatio

SUBMITTER: Lin GN 

PROVIDER: S-EPMC8754407 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature