18 citations
,
September 2018 in “Experimental physiology” This study observed that electro-acupuncture reduced global DNA methylation and DNMT3b expression in a PCOS-like rat model, suggesting a role of hypothalamic DNA methylation in PCOS development and treatment.
This study identified 19 genetic risk loci and 16 potential causal genes related to PCOS, highlighting the role of immune cell-specific mechanisms in its pathogenesis.
24 citations
,
November 2015 in “Annals of Nutrition and Metabolism” This study found that specific SHBG gene variants and haplotypes are associated with polycystic ovary syndrome, suggesting that SHBG may be a candidate gene for the condition.
18 citations
,
July 2010 in “Expert Review of Endocrinology & Metabolism” This study identified an association between the FTO gene and susceptibility to PCOS, providing the first genetic evidence linking PCOS to obesity.
This review discusses genetic and epigenetic studies of PCOS, highlighting Genome-Wide Association Studies that found genetic variants related to gonadotrophin secretion influencing PCOS susceptibility, but it reports no new findings.
January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
16 citations
,
September 2018 in “Clinical Biochemistry” This paper discusses the link between polycystic ovarian syndrome (PCOS) and health issues like infertility and cardiovascular diseases, caused by both genetic and environmental factors, but reports no new clinical findings.
179 citations
,
July 2005 in “Human Reproduction Update” This review discusses the genetic basis and familial patterns of polycystic ovary syndrome, noting a strong familial component but inconclusive genetic patterns; it reports no new empirical findings.
October 2023 in “IntechOpen eBooks” This book chapter reviews the genetic and epigenetic factors influencing PCOS, particularly in a global context and specific to India, and reports no new clinical findings.
45 citations
,
November 2012 This review discusses the association between androgen receptor gene polymorphism and PCOS, reporting mixed findings on whether shorter or longer CAG repeats are linked to the disorder; it provides no new results and calls for further studies.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” This study found that polymorphism of the SHBG gene (rs1799941) is associated with an increased risk of Polycystic Ovary Syndrome in Iraqi women.
39 citations
,
September 2012 in “Human Reproduction” This study found that specific SHBG gene variants, rs727428 and rs6259, were associated with PCOS in Mediterranean women, although the associations were relatively weak and do not indicate a causative role.
27 citations
,
November 2021 in “Scientific Reports” This study used bioinformatics to explore molecular differences in testicular and ovarian responses to SARS-CoV-2, identifying genes that could be associated with sex differences in infection outcomes.
16 citations
,
February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.
9 citations
,
September 2015 in “Reproductive Biomedicine Online” This study suggests that longer GGN repeat polymorphisms in the androgen receptor gene are associated with polycystic ovary syndrome in women.
6 citations
,
December 2021 in “International Journal of Endocrinology” This study found that the INSR His1058 C/T SNP does not increase the risk of developing PCOS among Kashmiri women.
48 citations
,
January 2003 in “Fertility and Sterility” In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.
44 citations
,
January 2008 in “Fertility and Sterility” This study suggests that androgen receptor gene CAG repeat length may influence serum free testosterone levels in some PCOS patients, with longer repeats associated with higher testosterone concentrations.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
December 2024 in “Era s journal of medical research” This source reports that PCOS, a complex endocrinal condition, is characterized by hyperandrogenism, which leads to symptoms like hirsutism, acne, and alopecia; genetic factors and hypothalamic-pituitary-ovarian axis disruption play significant roles in its development, but more research is needed to understand these mechanisms fully.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” This study suggests that genetic variations in the AMH signal pathway may be linked to susceptibility and phenotype variations in PCOS among women with insulin resistance.
49 citations
,
November 2019 in “Egyptian Journal of Medical Human Genetics” This review discusses the role of CYP gene polymorphisms in exacerbating hyperandrogenism in women with PCOS and reports no clinical results; further validation of this hypothesis is needed.
January 2025 in “Pakistan Journal of Health Sciences” This study found a weak association between Cyp11a1 gene variation and polycystic ovary syndrome, with higher di-hydro-testosterone levels observed in individuals with the syndrome and anovulatory PCOS compared to controls.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
7 citations
,
May 2019 in “Journal of the Formosan Medical Association” This study found that overweight women with polycystic ovary syndrome carrying the HSD3B1 1245C allele had an increased presence of female pattern hair loss compared to those with the wild-type genotype.
25 citations
,
June 2012 in “Endocrine” This review discusses emerging concepts in PCOS from the AEPCOS 2010 meeting and reports no clinical findings; it suggests that the transition of care in congenital adrenal hyperplasia could inform PCOS adolescent care.
20 citations
,
December 2000 in “Fertility and Sterility” This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” This study suggests that eNOS and STAT6 gene polymorphisms may increase the risk of developing PCOS in South Indian women.