Publication:

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

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.