ArticleJournal of ovarian research2024
Exploring the association of ESR1 and ESR2 gene SNPs with polycystic ovary syndrome in human females: a comprehensive association study.
Article in Journal of ovarian research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Elucidating the Molecular Mechanisms of Vitex negundo L. in Polycystic Ovary Syndrome via Metabolomics-Driven Network Pharmacology.Biomedical chromatography : BMC · 2026Article
- L-carnitine improves polycystic ovary syndrome by increasing CYP11A1, estrogen receptor, and decreasing XNIP and VEGF expression.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Effect of Xiaonang Yusi decoction () on IVF outcomes in patients with phlegm-dampness type PCOS: a prospective cohort study with supporting metabolomics, network pharmacology, and molecular docking analysis.Frontiers in medicine · 2026Article
- Soluble sugar component-based quality assessment and SWEET transport family identification uncovering soluble sugar accumulation mechanism inFrontiers in plant science · 2026Article
- Genetic and Epigenetic Components in the Pathogenesis of Adenomyosis and Endometriosis in Adolescents.Biomedicines · 2025Review
- Research mechanism of DBP and DEHP in the development of PCOS based on network toxicology and molecular docking.Naunyn-Schmiedeberg's archives of pharmacology · 2025Article
- In Silico Characterization of PathogenicGenes · 2025Article
- PCOS and the Genome: Is the Genetic Puzzle Still Worth Solving?Biomedicines · 2025Review
- Potent phytoregulators from3 Biotech · 2025Article
- Exploring the molecular mechanism ofHeliyon · 2025Article
- Global hotspots and trends in Acanthosis nigricans research: A bibliometric and visualized analysis.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024Article
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Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPolycystic Ovary Syndrome (PCOS) affects a significant proportion of human females worldwide and is characterized by hormonal, metabolic, and reproductive dysfunctions, including infertility, irregular menstrual cycles, acanthosis nigricans, and hirsutism. Mutations in the estrogen receptor genes ESR1 and ESR2, involved in normal follicular development and ovulation, can contribute to development of the PCOS. The present study focuses on investigating the potential correlation between single nucleotide polymorphisms (SNPs) of ESR1 and ESR2 genes and the incidence of this syndrome.
methodsFor this study, SNPs in ESR1 and ESR2 genes were retrieved from the ENSEMBL database and analyzed for their effect on mutated proteins using different bioinformatics tools including SIFT, PolyPhen, CADD, REVEL, MetaLR, I-Mutant, CELLO2GO, ProtParam, SOPMA, SWISS-MODEL and HDDOCK.
resultsAll the SNPs documented in the present study were deleterious. All the SNPs except rs1583384537, rs1450198518, and rs78255744 decreased protein stability. Two variants rs1463893698 and rs766843910 in the ESR2 gene altered the localization of mutated proteins i.e. in addition to the nucleus, proteins were also found in mitochondria and extracellular, respectively. SNPs rs104893956 in ESR1 and rs140630557, rs140630557, rs1596423459, rs766843910, rs1596405923, rs762454979 and rs1384121511 in ESR2 gene significantly changed the secondary structure of proteins (2D). SNPs that markedly changed 3D configuration included rs1554259481, rs188957694 and rs755667747 in ESR1 gene and rs1463893698, rs140630557, rs1596423459, rs766843910, rs1596405923, rs762454979 and rs1384121511 in ESR2 gene. Variants rs1467954450 (ESR1) and rs140630557 (ESR2) were identified to reduce the binding tendency of ESRα and β receptors with estradiol as reflected by the docking scores i.e. -164.97 and -173.23, respectively.
conclusionDue to the significant impact on the encoded proteins, these variants might be proposed as biomarkers to predict the likelihood of developing PCOS in the future and for diagnostic purposes.
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