Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.

ABSTRACT: To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10^-8) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10^-5). Fine mapping identified 4,008 CCVs in these regions, of which 1,452 CCVs were located in ovarian cancer-related chromatin marks with significant enrichment in active enhancers, active promoters, and active regions for CCVs from

SUBMITTER: Dareng EO 

PROVIDER: S-EPMC11179261 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature