Association of XRCC4 and XRCC5 gene polymorphisms with polycystic ovarian syndrome in an Indian cohort

Aim Polycystic ovary syndrome (PCOS) is a common endocrine disorder in Indian women, with prevalence influenced by ethnicity, lifestyle, and associated metabolic conditions. Given the emerging link between genomic instability and PCOS, this study aimed to assess the association of polymorphisms in two DNA repair genes, XRCC4 rs28360071 and XRCC5 rs6147172, with PCOS susceptibility in an Indian cohort.Methods A case-control study was conducted involving 100 women with clinically diagnosed PCOS and 100 healthy controls. Genotyping for XRCC4 intron 3 indel and XRCC5 promoter VNTR was performed using polymerase chain reaction (PCR). Genotype and allele frequencies were compared between groups, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess risk. Statistical significance was set at p < 0.05.Results After Bonferroni correction, the XRCC4 D/D genotype showed a strong increased risk with PCOS (OR = 25.3 [p < 0.001]).Conclusion XRCC4 polymorphism may influence PCOS susceptibility in Indian women.