Association of and Genetic Variations With Polycystic Ovary Syndrome in Chinese Women.

Oxidative stress plays an important role in the pathogenesis of polycystic ovary syndrome (PCOS). Glutathione peroxidase 1 (GPx1 and catalase (CAT are the major intracellular antioxidant enzymes that can detoxify hydrogen peroxide into water, preventing cellular injury from reactive oxygen species. The aim of the present study was to investigate the association of () and () genetic polymorphisms with the risk of PCOS and evaluate the effects of the genotypes on clinical, hormonal, metabolic and oxidative stress parameters in Chinese women. This is a case-control study of 654 patients with PCOS and 535 controls. The , and superoxide dismutase 2 () genotypes were determined by polymerase chain reaction amplification and restriction analysis. Clinical, hormonal, metabolic and oxidative stress parameters were also analyzed. The frequencies of the + genotype (14.1 vs. 8.4%) and allele (7.3 vs. 4.4%) of polymorphism were significantly higher in patients with PCOS than in control subjects. Genotype ( + ) remained a significant predictor for PCOS in prognostic models including age, body mass index (BMI), insulin resistance index, total cholesterol, triglycerides, high-density lipoprotein-cholesterol, and low-density lipoprotein-cholesterol as covariates (OR = 2.105, 95%CI: 1.330-3.331, = 0.001). Patients carrying the allele had relatively high average ovarian volume, waist circumference, and malondialdehyde levels ( < 0.07) compared with patients with the genotype. We also demonstrated that the subjects with both and alleles further increase the risk of PCOS compared with the individuals carrying the genotype after adjusting for age and BMI (OR = 5.774, 95%CI: 2.243-14.863, < 0.001). However, no significant differences were observed in the frequencies of the genotypes and alleles between PCOS and control groups. The , but not , genetic polymorphism is associated with the risk of PCOS in Chinese women.