Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree.

ABSTRACT:

Background

Bipolar disorder (BD) is a severe mental disorder with high, approximately 70% heritability. Here, to identify novel risk genes of BD, we conducted whole-exome sequencing and pathway enrichment analyses across one multi-affected, southern Chinese Han pedigree.

Methods

Whole-exome sequencing (WES) was performed on five patients with BD and three unaffected members in one multi-affected pedigree. The analyses focused on variants that (i) were shared by affected members but were not present in the unaffected members, and (ii) were rare and damaging. Bioinformatic analyses, including Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses, were used for functional annotation and pathway analysis.

Results

We identified a rare and potentially d

SUBMITTER: Wang Y 

PROVIDER: S-EPMC12210692 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature