ArticlePloS one2018
Identification of selected genetic polymorphisms in polycystic ovary syndrome in Sri Lankan women using low cost genotyping techniques.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 4 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 4 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Genetic evidence for the causal association between type 1 diabetes and the risk of polycystic ovary syndrome.Human genomics · 2023Pooled it
- Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.Journal of ovarian research · 2023Pooled it
- Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis.JBRA assisted reproduction · 2023Pooled 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
- Association of Kiss1 and GPR54 Gene Polymorphisms with Polycystic Ovary Syndrome among Sri Lankan Women.BioMed research international · 2019Trial
- Exploring the Role of Kisspeptin in Polycystic Ovary Syndrome and Its Associated Pregnancy Complications.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2026Review
- Meta-analysis ofJournal of diabetes and metabolic disorders · 2025Review
- Pharmacogenomic of LH and its receptor: are we ready for clinical practice?Reproductive biology and endocrinology : RB&E · 2025Review
- Evaluating the impact ofJournal of the Turkish German Gynecological Association · 2024Article
- Association of candidate gene (Journal of the Turkish German Gynecological Association · 2024Article
- Examining the Genetic Role of rs8192675 Variant in Saudi Women Diagnosed with Polycystic Ovary Syndrome.Diagnostics (Basel, Switzerland) · 2023Article
- Differential Association of FTO Gene variants and Haplotypes with the Susceptibility to Polycystic Ovary Syndrome According To Obesity in Women with PCOS.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- Molecular Role of Asn680Ser and Asp37Glu Missense Variants in Saudi Women with Female Infertility and Polycystic Ovarian Syndrome.Current issues in molecular biology · 2023Article
- Article
- Association analysis of LHCGR variants and polycystic ovary syndrome in Punjab: a case-control approach.BMC endocrine disorders · 2022Article
- A GWAS in Idiopathic/Unexplained Infertile Men Detects a Genomic Region Determining Follicle-Stimulating Hormone Levels.The Journal of clinical endocrinology and metabolism · 2022Article
- Mutational Landscape Screening Through Comprehensive In Silico Analysis for Polycystic Ovarian Syndrome-Related Genes.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Polycystic ovary syndrome is linked with the fat mass obesity (FTO) gene variants rs17817449 and rs1421085 in western Saudi Arabia.Bioinformation · 2021Article
- Genetic Variability in Antioxidative and Inflammatory Pathways Modifies the Risk for PCOS and Influences Metabolic Profile of the Syndrome.Metabolites · 2020Article
- In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study.BMC medical genetics · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPolycystic ovary syndrome (PCOS), the commonest endocrine disorder affecting young women, appears to be a multigenic trait with contributing genes being unclear. Hence, analysis of polymorphisms in multiple candidate genes is required. Currently available genotyping methods are expensive, time-consuming with limited analytical sensitivity.
aim(i) Develop and validate high resolution melting (HRM) assay and allele-specific real-time quantitative PCR (AS-qPCR) for genotyping selected SNPs associated with PCOS. (ii) Identify selected SNPs and their association with a Sri Lankan cohort of well-characterized PCOS.
methodsDNA was extracted from women with well-characterized PCOS from adolescence (n = 55) and ethnically matched controls (n = 110). FTO (Fat mass and obesity associated gene; rs9939609), FSHB (Follicle stimulating hormone beta subunit; rs6169), FSHR (Follicle stimulating hormone receptor; rs6165/rs6166), and INSR (Insulin receptor; rs1799817) genes were genotyped using HRM assay. GnRH1 (Gonadotropin releasing hormone; rs6185), LHB (Luteinizing hormone beta subunit; rs1800447/rs34349826) and LHCGR (Luteinizing hormone/choriogonadotropin receptor; rs2293275) genes were genotyped using AS-qPCR method. Genotyping results were validated using Sanger sequencing.
resultsA significant association was observed within FTO gene polymorphism (rs9939609) and PCOS. Genotype frequency of FTO gene (rs9939609)-cases versus controls were TT-36.4% vs.65.4% (p<0.05), AT-23.6% vs.20.9%, AA-40% vs.13.6% (p<0.05). Genotype frequencies of the SNPs GnRH1 (rs6185), FSHB (rs6169), FSHR (rs6165 & rs6166), LHB (rs1800447 & rs34349826), LHCGR (rs2293275) and INSR (rs1799817) were not significantly different between cases and controls (p>0.05). Only the mutant alleles were observed for LHB rs1800447 and rs34349826 SNPs in both groups. The HRM and AS-qPCR assay results had 100% concordance with sequencing results.
conclusionsFTO gene rs9939609 polymorphism is significantly more prevalent among Sri Lankan PCOS subjects while the other selected SNPs of HPG axis genes and INSR gene showed no association. HRM and AS-qPCR assays provide a reliable, fast and user-friendly genotyping method facilitating wider implication in clinical practice.
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