叶酸代谢MTHFR、MTRR基因多态性与男性不育症的相关性分析

Correlation analysis on Folate metabolism MTHFR, MTRR gene polymorphisms and male infertility

目的研究外周血MTHFR和MTRR基因与男性不育及精子异常的相关性。方法选取2019年-2021年就诊于新疆佳音医院生殖男科门诊的400例男性,其中不育症200例,健康生育史者200例。对两组样本进行精液参数和基因型检测,分析男性精子异常与MTHFR基因C677T、A1298C位点、MTRR基因A66G位点的相关性。结果男性不育症患者MTHFR基因C677T位点TT基因型和T等位基因频率,均高于健康对照组(P<0.05,P<0.01);男性不育症患者MTRR基因A66G位点GG基因型高于健康对照组(P<0.05);男性不育症患者C677T位点TT基因型精子浓度显著低于CC和CT型,DFI值显著高于CC、CT型(P<0.05,P<0.001)。结论MTHFR和MTRR基因的多态性分布与男性精子异常不育症的发生具有相关性,其中C677T位点TT基因型可能是造成男性不育症患者精子浓度低、DNA碎片率高的高风险基因。

Objective To study the relationship between peripheral blood MTHFR and MTRR genes and male infertility and sperm abnormalities.Methods 400 men who attended the male reproduction clinic of Xinjiang Jiayin Hospital from 2019 to 2021 were selected,including 200 cases of male infertility and 200 cases of healthy birth history.The semen parameters and genotypes of the two sets of samples were tested,and the relationship between male sperm abnormalities and the C677T,A1298C locus of the MTHFR gene,and the A66G locus of the MTRR gene were analyzed.Results The TT genotype and T allele frequency at the C677T site of the MTHFR gene in male infertility patients were higher than those in the healthy control group(P<0.05,P<0.01);The GG genotype at the A66G locus of the MTRR gene in male infertility patients was higher than that of the healthy control group(P<0.05);The sperm concentration of TT genotype at C677T locus of male infertility patients was significantly lower than that of CC and CT types,and the DFI value was significantly higher than that of CC and CT types(P<0.05,P<0.001).Conclusion The polymorphism distribution of MTHFR and MTRR genes is related to the occurrence of male infertility with abnormal sperm.Among them,the TT genotype at C677T locus may be a high-risk gene that causes low sperm concentration and high DNA fragmentation rate in male infertility patients.