[Association of glutathione S-transferase gene polymorphism with risk of male infertility in Moscow region].

About 30% of male infertility is associated with genetic abnormalities. Genetic polymorphisms increase the level of individual susceptibility to adverse environmental factors and affect human reproductive function. AIM: To study associations of glutathione S-transferase GSTP1(Ile/Val) gene polymorphisms (A313G; rs1695) with the risk of pathospermia in men of the Moscow region. MATERIALS AND METHODS: We examined 138 men in the Moscow region (n=70 - proven pathospermia, n=68 - fertile men). We obtained genomic DNA from blood leukocytes and studied the gene polymorphisms of glutathione-S-transferase GSTP1 (Ile/Val) (A313G; rs1695) in real time. RESULTS: In the analysis of the distribution frequencies of polymorphisms GSTP1 (Ile/Val) (A>G rs1695), we revealed the predominance of the AA genotype in fertile men and the predominance of the GG genotype (homozygous minor allele) in men with pathospermia. However, we found no significant difference in these parameters between the compared groups of patients (p=0.344). For GSTP1 (Ile/Val) polymorphism (A313G, rs1695), significant differences in the distribution of genotype frequencies in the subgroup of men with teratospermia (2=7.00; p=0.03) were revealed. The frequency of allele G in the subgroup of men with teratospermia is statistically significantly different from the frequencies of alleles in the control group: 52% versus 30% (2=10,004; p=0.0015). In subgroups of men with azoospermia and asthenospermia, we did not find significant differences in the distribution of genotypes of GSTP1 polymorphism (rs1695) (p>0.05). DISCUSSION: Glutathione-S-transferase (GSTP1) is a multifunctional protein that protects sperm cells from the damaging effects of reactive oxygen species and xenobiotics. The Association of GSTP1 polymorphism (Ile/Val) (A313G, rs1695) with teratospermia explains the main stages of the pathogenesis of male infertility in this category of patients. CONCLUSION: Gene polymorphism GSTP1 (A313G, rs1695) can be considered a genetic marker of susceptibility to pathospermia in men.

[The effect of polymorphisms C677T and 1298 gene MTHFR on the reproductive function of men].

References. Disturbances of spermogram parameters are associated with infertility in men and are determined by polymorphisms of many genes involved in spermatogenesis. Folate metabolism plays an important role in spermatogenesis, as it is involved in the synthesis, repair and methylation of DNA. OBJECTIVE: the distribution of C677T (rs1801133) and A1298C (rs1801131) polymorphisms of the MTHFR gene among infertile and fertile men in the Moscow region and to identify a possible Association of these polymorphisms with the risk of pathospermia. MATERIALS AND METHODS: the study included 127 infertile men with different forms of pathospermia and 68 fertile men (with one or more children). Genotyping of polymorphisms (C677T and A1298C) gene MTHFR was performed by real-time polymerase chain reaction (PCR-RV). RESULTS: Analysis of the distribution of MTHFR genotypes (C677T and A1298C) revealed no significant differences in the distribution of genotypes in groups of infertile and fertile men. The frequency of minor allele 1298S in asthenospermia was 52%, in teratospermia was 36% and in men with azzospermia - 33% (2=8.67; p=0.003). DISCUSSION: To date, there are no published results on the study of the Association of polymorphisms of folate-metabolizing enzyme genes with the development of pathospermia among men in the Moscow region. The results of our study demonstrate that 1298 polymorphism of the MTHFR gene may be involved in the etiology of male infertility in patients of the Moscow region. CONCLUSION: Comparative analysis of gene and genotype frequencies by the studied polymorphisms in infertile men with different forms of pathospermia showed an associative relationship of allele 1298C of MTHFR gene with the risk of asthenozoospermia (p<0.05).