Polymorphisms of xenobiotic detoxification genes GSTT1 and GSTM1 and activity of glutathione system enzymes were studied in men with infertility. The frequency of deletion variant of GSTT1 gene in men with infertility was by 2 times higher than in fertile men. Deletion variant of GSTM1 gene was 1.4-fold more frequent in infertile men than in fertile men. Complete deletion of two genes was found in 19% men with infertility and only in 6% fertile men. The balance of activity of glutathione system enzymes essential for the effective detoxification of exogenous xenobiotics and toxic endogenous metabolites was impaired in infertile carriers of deletion variants of genes. Our results suggest that adaptation mechanisms are disordered in infertile men.

Comparative analysis of the frequency distributions of genotypes and alleles of 3111T/C Clock gene polymorphism was carried out in climacteric Caucasian women with and without insomnia. Genotype TT is more incident in women with insomnia (55.5% vs. 42.6% in the control). Allele T predominated in the control and study group and its frequency is higher in women with insomnia. The OR for the risk of insomnia realization is 1.78 (95%CI 1.16-2.75). No association between genotypes and complaints of patients with insomnia is detected.

We studied the frequency of alleles and genotypes of CAT gene -262C>T polymorphism (rs1001179) in Russian and Buryat adolescents. The frequency of -262T allele was 28.31% in Russians and 16.84% in Buryats (p<0.01). In both ethnic groups, a correlation between the study polymorphism and concentration of diene conjugates was observed. Carriers of TT-genotype of CAT gene-262C>T polymorphism had lower level of diene conjugates than carriers of CT- and CC-genotypes.

The aim of this research was to investigate the glutathione system components and their association with polymorphisms GST genes in men with infertility.Materials and Methods: One hundred and sixty Russian men of reproductive age (Caucasians) who came to the public health institution Republican Perinatal Center in Ulan-Ude with an infertility problem of one year and more after marriage were included in the main group. The control group included 104 men with proven fertility. DNA samples were genotyped for polymorphisms in GSTP1, GSTT1 and GSTM1genes and activity of glutathione system enzymes was determined.Results: The most informative genetic and metabolic indicators in Caucasian males with infertility were combinations of the null genotypes GSTT1(*0/*0)+GSTM1(*0/*0) associated with a decrease of GST activity in blood and ejaculate and an increase of GSH and GPO in the blood. Another combination is GSTP1(Ile105Val)+GSTP1(Ala114Val), which is associated with suppression of the blood and ejaculate GPO activity and a decrease in blood concentration of GSH.

Comparative analysis of the parameters of LPO, antioxidant defense (AOD), and the thiol/disulfide system was performed in fertile and infertile males of reproductive age carrying different genotypes of the glutathione system genes. Blood plasma, blood hemolysate, and ejaculate served as specimens for biochemical studies. A decrease in glutathione S-transferase activity was found in blood and ejaculate specimens from fertile and infertile carriers of nonfunctional GSTT1(0/0)/GSTM1(0/0) genotypes. In infertile carriers of nonfunctional GSTT1(0/0)/GSTM1(0/0) genotypes determining reduced glutathione S-transferase activity, a decrease in the concentration of low-molecular-weight cell antioxidant (reduced glutathione) and an increase in the concentration of secondary LPO products (TBA-reactive substances) were revealed. Identification of carriers the polymorphic GSTT1 and GSTM1 variants and analysis of activity of the thiol/disulfide system enzymes can be recommended for additional evaluation of the risk for reproductive dysfunction in men.