Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women

Hyperandrogenism is a central feature of polycystic ovary syndrome (PCOS). Androgens act via the androgen receptor (AR). The rs6152G/A AR gene polymorphism has been reported to be associated with male pattern baldness (MPB), which is a common characteristic of males in PCOS families. Therefore, we investigated the relationship between the rs6152G/A polymorphism and PCOS in Han Chinese women. The rs6152G/A AR gene polymorphism was screened by restriction fragment length polymorphism (RFLP) in 224 PCOS women and 223 control subjects from the Reproductive and Genetic Hospital of CITIC-XIANGYA in China. There was a significantly higher prevalence of genotypes containing the A allele in PCOS patients compared with controls (P < 0.05). Patients carrying the rs6152A allele had a 1.608-fold greater risk of developing polycystic ovary syndrome compared with rs6152GG homozygotes (OR = 1.608, CI = 1.008-2.597, P < 0.05). In conclusion, the individuals carrying the rs6152A allele had significantly higher susceptibility to polycystic ovary syndrome than those that were GG homozygotes.