ArticleThe Journal of clinical endocrinology and metabolism2008
Association of androgen receptor CAG repeat polymorphism and polycystic ovary syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 4 of them syntheses that pooled it.
What it found
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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
39 citing papers in PubMed, 4 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Association study of androgen signaling pathway genes in polycystic ovary syndrome.Fertility and sterility · 2016Pooled it
- The association between androgen receptor gene CAG polymorphism and polycystic ovary syndrome: a case-control study and meta-analysis.Journal of assisted reproduction and genetics · 2014Pooled it
- Androgen receptor CAG repeats length polymorphism and the risk of polycystic ovarian syndrome (PCOS).PloS one · 2013Pooled it
- Negative association between androgen receptor gene CAG repeat polymorphism and polycystic ovary syndrome? A systematic review and meta-analysis.Molecular human reproduction · 2012Pooled it
- Reduced CAG Repeats in the Androgen Receptor Gene May Independently Cause Polycystic Ovarian Syndrome.Current issues in molecular biology · 2026Review
- Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes.Frontiers in genetics · 2025Article
- Investigation of androgen receptor CAG repeats length in polycystic ovary syndrome diagnosed using the new international evidence-based guideline.Journal of ovarian research · 2023Article
- Beyond Prostate Cancer: An Androgen Receptor Splice Variant Expression in Multiple Malignancies, Non-Cancer Pathologies, and Development.Biomedicines · 2023Review
- PPT1 regulation of HSP90α depalmitoylation participates in the pathogenesis of hyperandrogenism.iScience · 2023Article
- The sex-dependent role of the androgen receptor in glioblastoma: results of molecular analyses.Molecular oncology · 2022Article
- Hirsutism, Normal Androgens and Diagnosis of PCOS.Diagnostics (Basel, Switzerland) · 2022Review
- Polycystic Ovary Syndrome: the Epigenetics Behind the Disease.Reproductive sciences (Thousand Oaks, Calif.) · 2022Review
- Associations between testosterone, estradiol, and androgen receptor genotype with amygdala subregions in adolescents.Psychoneuroendocrinology · 2022Article
- Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach.Biomedicines · 2022Review
- The role of polymorphism in various potential genes on polycystic ovary syndrome susceptibility and pathogenesis.Journal of ovarian research · 2021Review
- Evaluation of CAG repeat length in the androgen receptor gene and polycystic ovary syndrome risk in Iranian women: A case-control study.International journal of reproductive biomedicine · 2021Article
- DNA methylation in promoter regions of genes involved in the reproductive and metabolic function of children born to women with PCOS.Epigenetics · 2020Article
- The role of androgen receptor CAG repeat polymorphism in androgen excess disorder and idiopathic hirsutism.Journal of endocrinological investigation · 2020Article
- Individualized medicine: Sex, hormones, genetics, and adverse drug reactions.Pharmacology research & perspectives · 2019Review
- Developmental Programming: Contribution of Epigenetic Enzymes to Antral Follicular Defects in the Sheep Model of PCOS.Endocrinology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
contextGenetically determined heightened androgen sensitivity may influence the phenotype of polycystic ovary syndrome (PCOS). To date, studies of the androgen receptor exon 1 polymorphic CAG repeat have produced conflicting results in PCOS.
objectiveWe tested the hypothesis that a lower number of CAG repeats is associated with increased odds of PCOS. We also compared X-chromosome inactivation between cases and controls.
designWomen with and without PCOS were genotyped for the CAG repeat and assessed for X-chromosome methylation. Association analyses were performed.
settingSubjects were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham; controls were recruited from the surrounding community. Genotyping took place at Cedars-Sinai Medical Center in Los Angeles.
participantsParticipants included 330 women with PCOS and 289 controls (77% white, 23% black). MAIN MEASUREMENTS: Androgen receptor genotype, X-chromosome methylation, and phenotyping for PCOS were measured.
resultsA smaller biallelic mean of CAG repeats was associated with increased odds of PCOS. X-chromosome inactivation was not different comparing cases with controls; however, in the subset with nonrandom inactivation, the chromosome bearing the shorter CAG allele was preferentially active in PCOS women.
conclusionsAssociation of shorter CAG repeats with PCOS is consistent with in vitro functional studies demonstrating higher activity of androgen receptors expressed from alleles with fewer CAG repeats, suggesting inherited alteration in androgen sensitivity may contribute to PCOS. In some women, such heightened sensitivity may also result from preferential expression of androgen receptors with shorter alleles. Thus, genetic and epigenetic changes may be involved in the pathogenesis of PCOS.
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What OpenQuestion holds
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.