Evidence for association between paraoxonase 1 gene polymorphisms and polycystic ovarian syndrome in south-west Chinese women

Objective: The aim of this study was to investigate the relationship between 192Q/R and 55L/M polymorphisms of paraoxonase 1 (PON1) gene and polycystic ovarian syndrome (PCOS) in Chinese women. Design: A case-control study. Methods: A total of 1113 subjects (610 patients with PCOS and 503 control women) from a population of Chinese Han nationality in Chengdu area were included in this study. PON1 genotypes were studied using PCR and restriction fragment length polymorphism analysis. Clinical and metabolic parameters were analyzed. Results: The frequencies of PON1 192RR genotype and R allele were significantly higher in patients with PCOS than in control women (44.6 vs 36.4%, 0.667 vs 0.610 respectively). The 192RR genotype remained a significant predictor for PCOS (odds ratio (RR/Q+CQQ): 1.656, 95% confidence interval: 1.156-2.371) in prognostic models including age, body mass index, insulin resistance index, triglyceride, HDL, and LDL as covariates. Compared with patients with QQ genotype, patients with RR or QR genotype had significantly higher waist circumference and fasting insulin and triglyceride levels, patients with RR genotype had significantly higher waist-to-hip ratio, and patients with QR genotype had significantly higher homeostasis model assessment of insulin resistance. Such relationships were not detected in the control women. No significant differences were found in the frequencies of PON1 55L/M genotype and allele between PCOS and control groups. Conclusions: The 192Q/R, but not 55L/M, polymorphism in PON1 gene is associated with the risk of PCOS in south-west Chinese women.