ArticlePLoS genetics2015
Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 4 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
53 citing papers in PubMed, 4 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Differential Methylation Signatures Associated with PCOS- A Systematic Review and In-Silico Analysis.Reproductive sciences (Thousand Oaks, Calif.) · 2025Pooled it
- DNA methylation associated with polycystic ovary syndrome: a systematic review.Archives of gynecology and obstetrics · 2024Pooled it
- Adipose Tissue Dysfunction in Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2023Pooled it
- Association between melatonin receptor gene polymorphisms and polycystic ovarian syndrome: a systematic review and meta-analysis.Bioscience reports · 2020Pooled it
- Astaxanthin and omega-3 fatty acids enhance endometrial receptivity in a rat model of polycystic ovary syndrome.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Epigenetic regulation by DNA methylation in PCOS and POI: mechanisms of ovarian dysfunction and implications for clinical research.Journal of ovarian research · 2026Review
- Review
- The Molecular Basis of Polycystic Ovary Syndrome and Its Cardiometabolic Correlates: Exploring the Intersection and Its Clinical Implications-A Narrative Review.Biomedicines · 2025Review
- Polycystic Ovarian Syndrome: A Review of Multi-omics Analyses.Reproductive sciences (Thousand Oaks, Calif.) · 2025Review
- Pharmacogenomic of LH and its receptor: are we ready for clinical practice?Reproductive biology and endocrinology : RB&E · 2025Review
- Metabolic Implications of PCOS.Current pediatrics reports · 2025Article
- Machine learning-based clustering identifies obesity subgroups with differential multi-omics profiles and metabolic patterns.Obesity (Silver Spring, Md.) · 2024Article
- Polycystic Ovary Syndrome, Insulin Resistance, and Cardiovascular Disease.Current cardiology reports · 2024Review
- Polycystic ovary syndrome.Nature reviews. Disease primers · 2024Review
- Assessment of the Effect of Leonurine Hydrochloride in a Mouse Model of PCOS by Gene Expression Profiling.Genes · 2024Article
- Obesity-Dependent Association of the rs10454142Biomedicines · 2024Article
- Role of polyphenols in remodeling the host gut microbiota in polycystic ovary syndrome.Journal of ovarian research · 2024Review
- An Evolutionary Model for the Ancient Origins of Polycystic Ovary Syndrome.Journal of clinical medicine · 2023Article
- The Effect of Metformin and Carbohydrate-Controlled Diet on DNA Methylation and Gene Expression in the Endometrium of Women with Polycystic Ovary Syndrome.International journal of molecular sciences · 2023Article
- Upregulated Ribosomal Pathway Impairs Follicle Development in a Polycystic Ovary Syndrome Mouse Model: Differential Gene Expression Analysis of Oocytes.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Genome wide association studies (GWAS) have revealed 11 independent risk loci for polycystic ovary syndrome (PCOS), a common disorder in young women characterized by androgen excess and oligomenorrhea. To put these risk loci and the single nucleotide polymorphisms (SNPs) therein into functional context, we measured DNA methylation and gene expression in subcutaneous adipose tissue biopsies to identify PCOS-specific alterations. Two genes from the LHCGR region, STON1-GTF2A1L and LHCGR, were overexpressed in PCOS. In analysis stratified by obesity, LHCGR was overexpressed only in non-obese PCOS women. Although not differentially expressed in the entire PCOS group, INSR was underexpressed in obese PCOS subjects only. Alterations in gene expression in the LHCGR, RAB5B and INSR regions suggest that SNPs in these loci may be functional and could affect gene expression directly or indirectly via epigenetic alterations. We identified reduced methylation in the LHCGR locus and increased methylation in the INSR locus, changes that are concordant with the altered gene expression profiles. Complex patterns of meQTL and eQTL were identified in these loci, suggesting that local genetic variation plays an important role in gene regulation. We propose that non-obese PCOS women possess significant alterations in LH receptor expression, which drives excess androgen secretion from the ovary. Alternatively, obese women with PCOS possess alterations in insulin receptor expression, with underexpression in metabolic tissues and overexpression in the ovary, resulting in peripheral insulin resistance and excess ovarian androgen production. These studies provide a genetic and molecular basis for the reported clinical heterogeneity of PCOS.
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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.