{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Harris RA"],"funding":["NIH HHS"],"pagination":["11184"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12652976"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(22)"],"pubmed_abstract":["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 androg"],"journal":["International journal of molecular sciences"],"pubmed_title":["Multimodal Integration of Genomic Data Reveals Regulatory Mechanisms at the Polycystic Ovary Syndrome (PCOS)-Associated 12q13.2 Locus."],"pmcid":["PMC12652976"],"funding_grant_id":["5R01HD033852-13","5R01HD083323-05"],"pubmed_authors":["Harris RA","McAllister JM","Strauss JF"],"additional_accession":[]},"is_claimable":false,"name":"Multimodal Integration of Genomic Data Reveals Regulatory Mechanisms at the Polycystic Ovary Syndrome (PCOS)-Associated 12q13.2 Locus.","description":"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 androg","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-05-19T03:15:07.018Z","creation":"2026-05-19T03:11:21.796Z"},"accession":"S-EPMC12652976","cross_references":{"pubmed":["41303667"],"doi":["10.3390/ijms262211184"]}}