ArticleThe Journal of clinical endocrinology and metabolism2013
Evidence for chromosome 2p16.3 polycystic ovary syndrome susceptibility locus in affected women of European ancestry.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 4 of them syntheses that pooled it.
What it found
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Who cites it
55 citing papers in PubMed, 4 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Genetic association between LHCGR variants and polycystic ovary syndrome: a meta-analysis.Journal of assisted reproduction and genetics · 2025Pooled it
- Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.Journal of ovarian research · 2023Pooled it
- Association between melatonin receptor gene polymorphisms and polycystic ovarian syndrome: a systematic review and meta-analysis.Bioscience reports · 2020Pooled it
- Evaluating reported candidate gene associations with polycystic ovary syndrome.Fertility and sterility · 2013Pooled it
- Multi-modal magnetic resonance elastography for noninvasive assessment of ovarian tissue rigidity in vivo.Acta biomaterialia · 2015Trial
- Diagnostic Criteria and Genetic Basis of Polycystic Ovary Syndrome: A Narrative Review.Metabolites · 2026Review
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.The Journal of clinical endocrinology and metabolism · 2025Article
- Shared Pathophysiological Mechanisms and Genetic Factors in Early Menarche and Polycystic Ovary Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Review
- Decoding the Methylome: Insights into the Epigenetic Regulation of Polycystic Ovarian Syndrome through Mitochondrial DNA Methylation.Current genomics · 2025Review
- Epigallocatechin Gallate for the Treatment of Benign and Malignant Gynecological Diseases-Focus on Epigenetic Mechanisms.Nutrients · 2024Review
- Significance of LHCGR polymorphisms in polycystic ovary syndrome: an association study.Scientific reports · 2023Article
- An Evolutionary Model for the Ancient Origins of Polycystic Ovary Syndrome.Journal of clinical medicine · 2023Article
- Association analysis of LHCGR variants and polycystic ovary syndrome in Punjab: a case-control approach.BMC endocrine disorders · 2022Article
- Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.Endocrine reviews · 2022Article
- Why are women with polycystic ovary syndrome obese?British medical bulletin · 2022Review
- Article
- The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis.Journal of ovarian research · 2021Review
- Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis: How Far Is Our Understanding?Frontiers in immunology · 2021Review
- Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
contextA previous genome-wide association study in Chinese women with polycystic ovary syndrome (PCOS) identified a region on chromosome 2p16.3 encoding the LH/choriogonadotropin receptor (LHCGR) and FSH receptor (FSHR) genes as a reproducible PCOS susceptibility locus.
objectiveThe objective of the study was to determine the role of the LHCGR and/or FSHR gene in the etiology of PCOS in women of European ancestry.
designThis was a genetic association study in a European ancestry cohort of women with PCOS.
settingThe study was conducted at an academic medical center.
participantsParticipants in the study included 905 women with PCOS diagnosed by National Institutes of Health criteria and 956 control women.
interventionWe genotyped 94 haplotype-tagging single-nucleotide polymorphisms and two coding single-nucleotide polymorphisms mapping to the coding region of LHCGR and FSHR plus 20 kb upstream and downstream of the genes and test for association in the case control cohort and for association with nine quantitative traits in the women with PCOS.
resultsWe found strong evidence for an association of PCOS with rs7562215 (P = 0.0037) and rs10495960 (P = 0.0046). Although the marker with the strongest association in the Chinese PCOS genome-wide association study (rs13405728) was not informative in the European populations, we identified and genotyped three markers (rs35960650, rs2956355, and rs7562879) within 5 kb of rs13405728. Of these, rs7562879 was nominally associated with PCOS (P = 0.020). The strongest evidence for association mapping to FSHR was observed with rs1922476 (P = 0.0053). Furthermore, markers with the FSHR gene region were associated with FSH levels in women with PCOS.
conclusionsFine mapping of the chromosome 2p16.3 Chinese PCOS susceptibility locus in a European ancestry cohort provides evidence for association with two independent loci and PCOS. The gene products LHCGR and FSHR therefore are likely to be important in the etiology of PCOS, regardless of ethnicity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.