ArticleNature communications2015
Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 195 papers, 11 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
195 citing papers in PubMed, 11 syntheses or guidelines pooled it, 524 citations in OpenAlex.
- Prevalence and associated factors of gestational diabetes mellitus among women with polycystic ovary syndrome: a systematic review and meta-analysis.Frontiers in endocrinology · 2026Pooled it
- A Systematic Review of the Molecular Mechanisms Involved in the Association Between PCOS and Endometrial and Ovarian Cancers.Journal of cellular and molecular medicine · 2024Pooled it
- Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.BMC genomics · 2024Pooled it
- Genetic evidence for the causal association between type 1 diabetes and the risk of polycystic ovary syndrome.Human genomics · 2023Pooled it
- Childhood, adolescent, and adulthood adiposity are associated with risk of PCOS: a Mendelian randomization study with meta-analysis.Human reproduction (Oxford, England) · 2023Pooled it
- Genomic correlation, shared loci, and causal relationship between obesity and polycystic ovary syndrome: a large-scale genome-wide cross-trait analysis.BMC medicine · 2022Pooled it
- Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.Human reproduction (Oxford, England) · 2022Pooled it
- Replication study and meta-analysis of selected genetic variants and polycystic ovary syndrome susceptibility in Asian population.Journal of assisted reproduction and genetics · 2021Pooled it
- Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length.Human molecular genetics · 2018Pooled it
- Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.PLoS genetics · 2018Pooled it
- Genome-wide association study identifiesJournal of medical genetics · 2018Pooled it
- Trial
- Recent advances in polyendocrine metabolic ovarian syndrome, formerly polycystic ovary syndrome, with emphasis on endocrine and metabolic dysfunction and cardiovascular risk.Journal of internal medicine · 2026Review
- Systems genetics approaches model the heritable architecture of polyendocrine metabolic ovarian syndrome.The Journal of clinical investigation · 2026Article
- Advancing PCOS drug development: multi-omics discovery of key targets and repurposable compounds.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Exploring the role of the NLRP3 Inflammasome in polycystic ovary syndrome: therapeutic potential of herbal medicines.Journal of ovarian research · 2026Review
- Polyendocrine metabolic ovarian syndrome (PMOS)/polycystic ovary syndrome (PCOS): current and future trends.The Journal of clinical investigation · 2026Review
- BMI-Dependent Correlations of Sex Hormone Genes with Simple Endometrial Hyperplasia.Life (Basel, Switzerland) · 2026Article
- Polymorphism of theLife (Basel, Switzerland) · 2026Article
- Regulatory risk loci link disrupted androgen response to the pathophysiology of polycystic ovary syndrome.Journal of the Endocrine Society · 2026Article
135 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 10 institutions in 6 countries.
Funding
Abstract
Polycystic ovary syndrome (PCOS) is the most common reproductive disorder in women, yet there is little consensus regarding its aetiology. Here we perform a genome-wide association study of PCOS in up to 5,184 self-reported cases of White European ancestry and 82,759 controls, with follow-up in a further ∼2,000 clinically validated cases and ∼100,000 controls. We identify six signals for PCOS at genome-wide statistical significance (P<5 × 10(-8)), in/near genes ERBB4/HER4, YAP1, THADA, FSHB, RAD50 and KRR1. Variants in/near three of the four epidermal growth factor receptor genes (ERBB2/HER2, ERBB3/HER3 and ERBB4/HER4) are associated with PCOS at or near genome-wide significance. Mendelian randomization analyses indicate causal roles in PCOS aetiology for higher BMI (P=2.5 × 10(-9)), higher insulin resistance (P=6 × 10(-4)) and lower serum sex hormone binding globulin concentrations (P=5 × 10(-4)). Furthermore, genetic susceptibility to later menopause is associated with higher PCOS risk (P=1.6 × 10(-8)) and PCOS-susceptibility alleles are associated with higher serum anti-Müllerian hormone concentrations in girls (P=8.9 × 10(-5)). This large-scale study implicates an aetiological role of the epidermal growth factor receptors, infers causal mechanisms relevant to clinical management and prevention, and suggests balancing selection mechanisms involved in PCOS risk.
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Registered trials
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.