Association between polycystic ovary syndrome and the polymorphisms of aryl hydrocarbon receptor repressor, glutathione-s-transferase T1, and glutathione-S-transferase M1 genes

It is well known that genetic polymorphisms are also involved in the development of polycystic ovary syndrome (PCOS), but currently there is no study about the polymorphism of detoxification enzymes in PCOS patients. We examined whether genetic polymorphisms of aryl hydrocarbon receptor repressor (AhRR), glutathione-S-transferase M1 (GSTM1) and glutathione-S-transferase T1 (GSTT1) are associated with susceptibility to polycystic ovary syndrome. Case-control study DNA samples from 478 patients with PCOS and 376 controls were genotyped for AhRR codon 185 polymorphism (CCC to GCC, Pro to Ala), GSTM1 deletion, and GSTT1 deletion. There was no significant difference in the genotype distribution of AhRR codon 185 C/G polymorphism between women with PCOS and controls. Also, there was no significant difference in the genotype distribution of GSTM1 or GSTT1 genes between patients with PCOS and controls. However, there was a trend for an association of CG+GG genotypes of AhRR codon 185 with the risk of PCOS (CC and non-CC frequencies were 37.1% and 62.8% for the PCOS group and 43.6% and 56.4% for the controls, respectively, P = 0.06). And using the wild-type CC genotypes as the references, the odds ratio (OR) that a woman has PCOS was 1.30 [95% confidence intervals (CIs) 0.99-1.72] for the non-CC genotype. Analyzing AhRR and GSTT1 together, we found that patients with variant allele genotype combinations have increased risk of PCOS, compared with controls. Using the wild allele genotype combination as the reference, the odds ratios that a woman has PCOS were 1.54 (95% CIs 1.04-2.29) for the non-CC/ GSTT1 null mutation combination (P = 0.03). Also, analyzing GSTT1 and GSTT1 together, combined GSTM1/GSTT1 null genotypes were associated with the presence of PCOS (P = 0.016, OR=1.48, 95% CIs=1.08-2.04). The polymorphisms of AhRR, GSTM1 and GSTT1 genes are associated with the development of PCOS.