ArticleGene2023
Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome.
Article in Gene, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Multimodal Integration of Genomic Data Reveals Regulatory Mechanisms at the Polycystic Ovary Syndrome (PCOS)-Associated 12q13.2 Locus.International journal of molecular sciences · 2025Article
- Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women.Basic and clinical andrology · 2025Article
- Genomic Correlations, Shared Loci, and Drug Targets Between Polycystic Ovary Syndrome and Asthma: Insights From Genome-wide Association Analysis.The Journal of clinical endocrinology and metabolism · 2025Article
- Molecular subtype of recurrent implantation failure reveals distinct endometrial etiology of female infertility.Journal of translational medicine · 2025Article
- Polycystic ovary syndrome.Nature reviews. Disease primers · 2024Review
- Susceptibility loci identified in Han Chinese influence genetic predisposition of PCOS in Indian women.Molecular biology reports · 2024Article
- Single-Cell RNA-Seq Identifies Pathways and Genes Contributing to the Hyperandrogenemia Associated with Polycystic Ovary Syndrome.International journal of molecular sciences · 2023Article
- Exome sequencing to explore the possibility of predicting genetic susceptibility to the joint occurrence of polycystic ovary syndrome and Hashimoto's thyroiditis.Frontiers in immunology · 2023Article
Corrections and comments
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Authors and funding
8 authors at 7 institutions in 1 country.
Funding
Abstract
Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenemia of ovarian theca cell origin. We report significant association of androgen production with 15 single nucleotide variants (SNVs) identified by exome sequencing of theca cells from women with PCOS and normal ovulatory women. Ten SNVs are located within a 150 kbp region on 12q13.2 which encompasses loci identified in PCOS genome-wide association studies (GWAS) and contains PCOS candidate genes ERBB3 and RAB5B. The region also contains PA2G4 which encodes a transcriptional corepressor of androgen receptor and androgen receptor-regulated genes. PA2G4 has not previously been recognized as related to PCOS in published GWAS studies. Two of the SNVs are predicted to have functional consequences (ERBB3 missense SNV, PA2G4 promoter SNV). PA2G4 interacts with the ERBB3 cytoplasmic domain containing the missense variant, suggesting a potential signaling pathway disruption that could lead to the PCOS ovarian phenotype. Single cell RNA sequencing of theca cells showed significantly less expression of PA2G4 after forskolin treatment in PCOS cells compared to normal cells (p
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Registered trials
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