Association of genetic polymorphisms in DNA repair genes in polycystic ovary syndrome

Introduction: Polycystic ovary syndrome (PCOS) involves expression of chronic anovulation and hyperandrogenism.Role of environmental and genetic factors in PCOS is strongly supported but the genes that are positively involved in the etiology of the PCOS have not been fully investigated until now. Material & Methods:A total of 127 patients with PCOS and 140 healthy controls were included in the present study.DNA was isolated from 4mL of blood samples from all the enrolled subjects.The polymorphisms of selected genes (XRCC1, XPD and hMSH2) were carried out by ARMS-PCR and PCR-RFLP.Results: GA genotype of XRCC1 gene were found to be predominant in the PCOS compared to controls (57.5%, 32.9% respectively, p = <0.0001).Signifi cant difference was not observed in the frequency of A allele of XPD among the controls and PCOS (0.76 and 0.62 respectively).Heterozygotes of hMSH2 gene were found to be predominant in the PCOS group compared to controls with 2.64 folds increased risk for PCOS, which was statistically signifi cant (OR 2.64, 95% CI 1.59-4.39,p=0.0001).Conclusions: Polymorphisms in XRCC1, XPD and hMSH2 genes were found to be predominant in patients with PCOS.Since different populations have distinct genetic backgrounds, it is necessary to validate or replicate such associations from other ethnic populations.