Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome

Abstract

Background: Polycystic Ovarian Syndrome (PCOS) is the most common cause of female anovulatory infertility, with a prevalence of 6-10% among women of reproductive age, characterized by clinical and / or biochemical androgen excess, ovulatory dysfunction and polycystic ovaries. Sex hormones and hormone receptors play a fundamental role in folliculogenesis. Aim of the study was to study the association of follicle-stimulating hormone receptor (FSHR) Ser680Asn; rs6166 gene polymorphism with PCOS in our study population.Methods: Genetic case-control study, involving 204 women with PCOS and 204 healthy, sex and age matched controls. Anthropometric and biochemical profile were taken in a well-designed proforma. Isolation of deoxyribonucleic acid (DNA) by salting out method and genotype analysis was done for all the study population using Polymerase chain reaction – Restriction fragment length polymorphism (PCR-RFLP).Results: We have demonstrated an association between FSHR gene, Ser680SAsn (rs6166) polymorphism and PCOS. Frequency of A allele was 0.61 in PCOS and 0.44 in controls (OR 1.98, CI 1.5-2.6, and P value <0.0001) indicates that the A allele is associated with PCOS in our study population. The AA genotype conferred a significant risk of developing PCOS (OR 2.069, CI 1.33-3.211 and P value 0.0012). We found significant elevation of body mass index, LH, LH/FSH with AA genotype of PCOS when compared with controls. The GG genotype showed increased basal FSH levels, insulin resistance in PCOS compared to other genotypes.Conclusions: FSHR Ser680Asn (rs6166) gene polymorphism is associated with PCOS, and can be used as a relevant molecular biomarker to identify risk of PCOS in our population.