ArticleThe Journal of clinical endocrinology and metabolism2015
Further investigation in europeans of susceptibility variants for polycystic ovary syndrome discovered in genome-wide association studies of Chinese individuals.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 3 of them syntheses that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 3 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Progress of the application clinical prediction model in polycystic ovary syndrome.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
- Association of DENND1A Gene Polymorphisms with Polycystic Ovary Syndrome: A Meta-Analysis.Journal of clinical research in pediatric endocrinology · 2016Pooled it
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Exploring genotype-phenotype correlation of FSHR polymorphisms in polycystic ovary syndrome.BMC endocrine disorders · 2025Article
- PCOS - the many faces of a disorder in women and men.Journal of endocrinological investigation · 2025Review
- Multiomics and Systematic Analyses Reveal the Roles of Hemoglobin and the HIF-1 Pathway in Polycystic Ovary Syndrome.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- DENND1A desensitizes granulosa cells to FSH by arresting intracellular FSHR transportation.Science China. Life sciences · 2024Article
- Susceptibility loci identified in Han Chinese influence genetic predisposition of PCOS in Indian women.Molecular biology reports · 2024Article
- Anti-Müllerian hormone: biology and role in endocrinology and cancers.Frontiers in endocrinology · 2024Review
- Assessment ofHeliyon · 2022Article
- Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach.Biomedicines · 2022Review
- Article
- Genetics of Polycystic Ovary Syndrome: What is New?Endocrinology and metabolism clinics of North America · 2021Review
- Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis: How Far Is Our Understanding?Frontiers in immunology · 2021Review
- Pathophysiologic Mechanisms of Insulin Secretion and Signaling-Related Genes in Etiology of Polycystic Ovary Syndrome.Genetics research · 2021Review
- DNA methylation of AMHRII and INSR gene is associated with the pathogenesis of Polycystic Ovary Syndrome (PCOS).Technology and health care : official journal of the European Society for Engineering and Medicine · 2021Article
- Genome-wide methylation profiling in granulosa lutein cells of women with polycystic ovary syndrome (PCOS).Molecular and cellular endocrinology · 2020Article
- PCOS-GWAS Susceptibility Variants inFrontiers in endocrinology · 2020Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
contextTwo genome-wide association studies (GWAS) of polycystic ovary syndrome (PCOS) have identified 11 susceptibility loci in Chinese individuals. Some of the risk loci identified in Chinese cohorts, mostly from the first GWAS, have been replicated in Europeans. Replication of the loci from the second GWAS in European cohorts is necessary to determine whether the same variants confer risk for PCOS in multiple ethnicities.
objectiveThe objective of the study was to determine the effects of the Chinese GWAS loci in European-origin individuals.
designThis was a genetic association study.
settingThe study was conducted at a tertiary care academic center. PATIENTS: Eight hundred forty-five European subjects with PCOS and 845 controls participated in the study.
interventionsINTERVENTIONS included blood sampling and genotyping.
main outcome measureThe association between PCOS and 12 independent single-nucleotide polymorphisms mapping to seven of the Chinese GWAS loci in a European cohort was measured.
resultsVariants in DENND1A (P = .0002), THADA (P = .035), FSHR (P = .007), and INSR (P = .046) were associated with PCOS in Europeans. The genetic risk score, generated for each subject based on the total number of risk alleles, was associated with the diagnosis of PCOS (P < .0001) and remained associated (P = .02), even after exclusion of the four variants individually associated with PCOS.
conclusionsAt least four of the PCOS susceptibility loci identified in the Chinese GWAS are associated with PCOS in Europeans. The overall genetic burden for PCOS, as demonstrated by the risk score, is also associated with the diagnosis of PCOS in Europeans. The PCOS susceptibility loci identified in the Chinese GWAS are thus likely to play an important role in the etiology of PCOS across ethnicities.
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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.