Gene regulatory activity associated with polycystic ovary syndrome revealed DENND1A-dependent testosterone production.

ABSTRACT: Polycystic ovary syndrome (PCOS) is among the most common disorders affecting up to 15% of the menstruating population globally. It is the leading cause of anovulatory infertility and a major risk factor for type 2 diabetes. Elevated testosterone levels are a core endophenotype. Despite that prevalence, the underlying causes remain unknown. PCOS genome-wide association studies (GWAS) have reproducibly mapped a number of susceptibility loci, including one encompassing a gene regulating androgen biosynthesis, DENND1A. Identifying the causal variants within these loci will provide fundamental insight into the precise biological pathways that are disrupted in PCOS. Here, we report the discovery of gene regulatory mechanisms that help explain genetic association with PCOS in the GATA4, FSHB and

SUBMITTER: Sankaranarayanan L 

PROVIDER: S-EPMC12361435 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature