biostudies-literatureHarris RANIH HHS11184https://www.ebi.ac.uk/biostudies/studies/S-EPMC12652976biostudies-literatureUnknown26(22)Polycystic ovary syndrome (PCOS) is a complex endocrine disorder affecting reproductive-aged women. Previous studies have identified genomic associations at chromosome 12q13.2, but the functional mechanisms underlying these associations remain unclear. We integrated three complementary datasets: (1) WES-identified single nucleotide variants (SNVs) from PCOS and normal theca cells with association testing for forskolin-stimulated androgen production, (2) STARR-seq enhancer activity data with eQTL colocalization analysis, and (3) scRNA-seq expression data comparing forskolin-stimulated PCOS and normal theca cells. We previously identified haplotypes involving 10 SNVs at 12q13.2 containing <i>RPS26</i>/<i>RAB5B</i>/<i>SUOX</i> that are significantly associated with forskolin-stimulated androgInternational journal of molecular sciencesMultimodal Integration of Genomic Data Reveals Regulatory Mechanisms at the Polycystic Ovary Syndrome (PCOS)-Associated 12q13.2 Locus.PMC126529765R01HD033852-135R01HD083323-05Harris RAMcAllister JMStrauss JFfalseMultimodal Integration of Genomic Data Reveals Regulatory Mechanisms at the Polycystic Ovary Syndrome (PCOS)-Associated 12q13.2 Locus.Polycystic ovary syndrome (PCOS) is a complex endocrine disorder affecting reproductive-aged women. Previous studies have identified genomic associations at chromosome 12q13.2, but the functional mechanisms underlying these associations remain unclear. We integrated three complementary datasets: (1) WES-identified single nucleotide variants (SNVs) from PCOS and normal theca cells with association testing for forskolin-stimulated androgen production, (2) STARR-seq enhancer activity data with eQTL colocalization analysis, and (3) scRNA-seq expression data comparing forskolin-stimulated PCOS and normal theca cells. We previously identified haplotypes involving 10 SNVs at 12q13.2 containing <i>RPS26</i>/<i>RAB5B</i>/<i>SUOX</i> that are significantly associated with forskolin-stimulated androg2025-01-01T00:00:00Z2025 Nov2026-05-19T03:15:07.018Z2026-05-19T03:11:21.796ZS-EPMC126529764130366710.3390/ijms262211184