Aim: To identify the association between Ile105Val, Ala114Val polymorphisms of gene GSTP1 (glutathione transferase pi1) and infertility in Russian men.
Materials and methods: A total of 160 infertile Russian men of reproductive age (mean age 30.2+/-3.6 years) were included in study group, while in control group there were 104 age-matched healthy fertile Russian male (mean age 31.3+/-5.4 years). Molecular and genetic studies of Ile105Val, Ala114Val polymorphisms of gene GSTP1 were performed using real-time polymerase chain reaction. Genomic DNA was extracted from the peripheral blood.
Results: A frequency of genotypes (p=0.024; df=2; p=0.024) and alleles (z=2,778; p=0,005) of Ile105Val locus was significantly different in the study and control group. In the study group, there was an increase in the frequency of the Ile/Ile genotype by 13% (=3.995; df=1; p=0.046) and a decrease in the frequency of the Val/Val genotype by 6% (=4.887; df=1; p=0.027). A rate of genotype Ile/Ile in infertile men with was 1.7 time higher than in control group (odds ratio (OR):1.73; 95% confidence interval (Cl): 1.04-2.87; p<0.05). There was not significant difference in frequency of genotypes and alleles of Ala114Val polymorphism of gene GSTP1 between the study and control groups.
Conclusions: The male infertility in Russia is associated with Ile105Val polymorphism and not associated with Ala114Val polymorphism of gene GSTP1. In infertile men wild-type genotype and major allele Ile105Val polymorphism of gene GSTP1 were significant more frequent compared to control group. A rate of genotype Ile/Ile in men with infertility was 1.7 time higher.
Keywords: GSTP1; gene polymorphism; glutathione S-transferase; male infertility; xenobiotics.