[谷胱甘肽S-转移酶基因多态性与莫斯科地区男性不育风险的关联]

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

作者信息

Kulchenko N G, Myandina G I, Alhejoj H, Azova M M, E Tarasenko V

机构信息

Peoples Friendship University of Russia, Moscow, Russia.

出版信息

Urologiia. 2021 May(2):69-73.

PMID:33960160

Abstract

UNLABELLED

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.

摘要

未标注

约30%的男性不育与基因异常有关。基因多态性会增加个体对不良环境因素的易感性水平，并影响人类生殖功能。

目的

研究谷胱甘肽S-转移酶GSTP1（Ile/Val）基因多态性（A313G；rs1695）与莫斯科地区男性精子异常症风险的关联。

材料与方法

我们对莫斯科地区的138名男性进行了检查（n = 70 - 确诊精子异常症，n = 68 - 生育能力正常的男性）。我们从血液白细胞中获取基因组DNA，并实时研究谷胱甘肽-S-转移酶GSTP1（Ile/Val）（A313G；rs1695）的基因多态性。

结果

在分析GSTP1（Ile/Val）（A>G rs1695）多态性的分布频率时，我们发现生育能力正常的男性中AA基因型占优势，而精子异常症男性中GG基因型（纯合子次要等位基因）占优势。然而，我们发现比较的患者组之间这些参数没有显著差异（p = 0.344）。对于GSTP1（Ile/Val）多态性（A313G，rs1695），在畸形精子症男性亚组中基因型频率分布存在显著差异（χ² = 7.00；p = 0.03）。畸形精子症男性亚组中等位基因G的频率与对照组等位基因频率在统计学上有显著差异：52% 对30%（χ² = 10.004；p = 0.0015）。在无精子症和弱精子症男性亚组中，我们未发现GSTP1多态性（rs1695）基因型分布有显著差异（p>0.05）。