Androgen Receptor Gene Tagging Single Nucleotide Polymorphisms are not Associated with Polycystic Ovary Syndrome in South Indian Women

Abstract

Impaired steroidogenesis at gonads or defect in the receptors mediating the actions of those hormones is being reported as an etiological factor for Polycystic ovary syndrome (PCOS). Of the various factors, variations in the expression of androgen receptor (AR) gene have been shown as a risk factor for women with PCOS; however the findings were not consistent among populations studied. Therefore, the present study was aimed to screen the prevalence of AR gene haplotype tagging single nucleotide polymorphisms (SNP) and its association with PCOS in south Indian women. The study population consists of a total of 198 subjects, of which 97 were women with PCOS and 101 healthy women as controls. Genotyping of SNPs for AR rs5919393 (C/T), rs5919411 (A/G) and rs12014709 (G/T) were carried out by polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and DNA sequencing. Out of three SNPs examined, the rs5919393 (C/T) and rs5919411 (A/G) are monomorphic in both PCOS and controls. Whereas, rs12014709 (G/T) was observed <2% in controls samples in the present study. The results did not show any evidence of association of polymorphisms rs5919393 (C/T), rs5919411 (A/G) and rs12014709 (G/T) in AR gene with PCOS in south Indian women.