ArticleThe Journal of clinical endocrinology and metabolism2024
Polycystic Ovary Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci.
Article in The Journal of clinical endocrinology and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 13 citations in OpenAlex.
- Distinct metabolomic profiles in lean and non-lean polyendocrine metabolic ovarian syndrome.Journal of assisted reproduction and genetics · 2026Article
- Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review.Metabolites · 2026Review
- Five tenets for advancing evidence-based precision medicine.Nature medicine · 2026Review
- The Ontogeny of Distinct Reproductive Phenotypes in Girls at Risk for PCOS During the Postmenarchal Transition.The Journal of clinical endocrinology and metabolism · 2026Article
- Gene by environment interaction effects on the metabolic subtype of Polycystic Ovary Syndrome in Hispanic Community Health Study/Study of Latinos.Frontiers in genetics · 2026Article
- On the Intimate Relationship of Adiposity to Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Age at Menarche and Coronary Artery Disease Risk: Divergent Associations With Different Sources of Variation.The Journal of clinical endocrinology and metabolism · 2025Article
- Reduced mean platelet volume (MPV) as an inflammatory marker in Chinese women with polycystic ovary syndrome: a case-control study.BMC women's health · 2025Article
- Research progress on the pathogenesis, clinical impact, and traditional Chinese medicine treatment of polycystic ovary syndrome complicated by insulin resistance.Frontiers in pharmacology · 2025Review
- Characterization of distinct polycystic ovary syndrome subtypes by cluster and principal component analyses.Frontiers in endocrinology · 2025Article
- Association of childhood dehydroepiandrosterone sulfate concentration, pubertal development, and DNA methylation at puberty-related genes.European journal of endocrinology · 2024Article
- Clustering Identifies Subtypes With Different Phenotypic Characteristics in Women With Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2024Article
- Vitamin D has therapeutic effects on obesity and hyperandrogenemia in PCOS mouse model induced by low dose DHEA and high-fat diet.BMC women's health · 2024Article
- Polycystic Ovary Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci.The Journal of clinical endocrinology and metabolism · 2024Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
contextPolycystic ovary syndrome (PCOS) is a heterogeneous disorder, with disease loci identified from genome-wide association studies (GWAS) having largely unknown relationships to disease pathogenesis.
objectiveThis work aimed to group PCOS GWAS loci into genetic clusters associated with disease pathophysiology.
methodsCluster analysis was performed for 60 PCOS-associated genetic variants and 49 traits using GWAS summary statistics. Cluster-specific PCOS partitioned polygenic scores (pPS) were generated and tested for association with clinical phenotypes in the Mass General Brigham Biobank (MGBB, N = 62 252). Associations with clinical outcomes (type 2 diabetes [T2D], coronary artery disease [CAD], and female reproductive traits) were assessed using both GWAS-based pPS (DIAMANTE, N = 898,130, CARDIOGRAM/UKBB, N = 547 261) and individual-level pPS in MGBB.
resultsFour PCOS genetic clusters were identified with top loci indicated as following: (i) cluster 1/obesity/insulin resistance (FTO); (ii) cluster 2/hormonal/menstrual cycle changes (FSHB); (iii) cluster 3/blood markers/inflammation (ATXN2/SH2B3); (iv) cluster 4/metabolic changes (MAF, SLC38A11). Cluster pPS were associated with distinct clinical traits: Cluster 1 with increased body mass index (P = 6.6 × 10-29); cluster 2 with increased age of menarche (P = 1.5 × 10-4); cluster 3 with multiple decreased blood markers, including mean platelet volume (P = 3.1 ×10-5); and cluster 4 with increased alkaline phosphatase (P = .007). PCOS genetic clusters GWAS-pPSs were also associated with disease outcomes: cluster 1 pPS with increased T2D (odds ratio [OR] 1.07; P = 7.3 × 10-50), with replication in MGBB all participants (OR 1.09, P = 2.7 × 10-7) and females only (OR 1.11, 4.8 × 10-5).
conclusionDistinct genetic backgrounds in individuals with PCOS may underlie clinical heterogeneity and disease outcomes.
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