摘要
目的探究亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性、血清同型半胱氨酸(Hcy)水平与少弱精子症不育患者精液质量相关性。方法选取2019年4月至2021年4月于十堰市太和医院生殖医学中心就诊的少弱精子症不育男性102例为研究组,以同期80例精液质量正常男性为对照组,通过PCR直接测序分析MTHFR基因C677T多态性,酶循环法检测血清Hcy水平。比较研究组与对照组MTHFR C677T基因型分布、等位基因频率、血清Hcy水平、精液常规参数(精子总数、精子浓度、精子总活力、前向运动精子百分率)以及精子DNA碎片指数(DFI),分析MTHFR C677T基因型、Hcy水平与精液质量指标关系。结果与对照组相比,研究组MTHFR C677T基因型中CC型频率(32.35%vs.55.00%)、C等位基因频率(59.31%vs.75.00%)显著下降(P<0.05),T等位基因频率(40.69%vs.25.00%)显著升高(P<0.05)。携带TT、CT基因型男性少弱精子症易感性分别是CC型的4.152倍[95%CI(1.331,12.768)]、2.001倍[95%CI(1.126,3.875)],携带T等位基因易感性是C等位基因的1.902倍[95%CI(1.175,2.948)]。研究组血清Hcy水平、DFI水平均显著高于对照组(P<0.05),而精子总数、精子浓度、精子总活力、前向精子运动率均显著低于对照组(P<0.05)。少弱精子症患者中,血清Hcy水平、DFI水平均表现为TT型>CT型>CC型(P<0.05),精子总数、精子浓度、精子总活力、前向精子运动率表现为TT型<CT型<CC型(P<0.05)。Pearson相关分析显示,少弱精子症患者的血清Hcy水平与精子总数(r=-0.277)、精子浓度(r=-0.446)、精子总活力(r=-0.528)、前向精子运动率(r=-0.495)均呈负相关(P<0.05),与DFI呈正相关(r=0.671,P<0.05)。结论MTHFR基因C677T多态性与男性少弱精子症有关,其中TT型、CT型是易感基因型,T等位基因是易感因素,其机制可能是通过高Hcy血症途径影响精液质量。
Objective:To explore the correlation between C677T polymorphism of methylenetetrahydrofolate reductase(MTHFR)gene,serum homocysteine(Hcy)level and semen quality in infertile patients with oligoasthenospermia.Methods:A total of 102 infertile men with oligoasthenospermia who were treated in reproductive medicine center of Shiyan Taihe Hospital between April 2019 and April 2021 were selected as study group,and 80 men with normal semen quality during the same period were enrolled as control group.Direct PCR sequencing was used to analyze the MTHFR gene C677T polymorphism,and enzymatic cycling assay was adopted to detect serum Hcy level.The MTHFR C677T genotype distribution,allele frequency,serum Hcy level and semen quality indicators[total sperm count,sperm concentration,sperm motility,forward progress sperm percentage and sperm DNA fragmentation index(DFI)]were compared between the study group and control group,and the relationship between C677T genotypes of MTHFR,Hcy level and semen quality indicators was analyzed.Results:The CC genotype frequency(32.35%vs.55.00%)and C allele frequency(59.31%vs.75.00%)of MTHFR C677T in study group were significantly decreased(P<0.05),while the frequency of T allele(40.69%vs.25.00%)was significantly increased(P<0.05)compared to control group.The susceptibility of oligoasthenospermia in men with TT genotype or CT genotype was 4.152 times[95%CI(1.331,12.768)]or 2.001 times[95%CI(1.126,3.875)]that of CC genotype,and the susceptibility in men carrying T allele was 1.902 times higher than that of the C allele[95%CI(1.175,2.948)].Serum Hcy level and DFI level of study group were significantly higher than those of control group(P<0.05)while the total sperm number,sperm concentration,sperm motility and forward progress sperm rate were significantly lower than those of control group(P<0.05).Among the patients with oligoasthenospermia,serum Hcy level and DFI level were shown as TT genotype>CT genotype>CC genotype(P<0.05),and the total sperm count,sperm concentration,sperm motility and forward progress sperm rate showed TT genotype<CT genotype<CC genotype(P<0.05).Pearson correlation analysis showed that serum Hcy level was negatively correlated with total sperm count(r=-0.277),sperm concentration(r=-0.446),sperm motility(r=-0.528)and forward progress sperm rate(r=-0.495)(all P<0.05),and was positively correlated with DFI(r=0.671,P<0.05).Conclusions:The C677T polymorphism of MTHFR gene is associated with male oligoasthenospermia.TT genotype and CT genotype are susceptible genotypes,and T allele is susceptible factor.Its mechanism may affect semen quality through high Hcy pathway.
作者
赵蕾
李娟
ZHAO Lei;LI Juan(Reproductive Medicine Center,Shiyan Taihe Hospital,Shiyan 442000;Department of Obstetrics,Shiyan Maternal&Child Health Hospital,Shiyan 442000)
出处
《生殖医学杂志》
CAS
2022年第3期315-320,共6页
Journal of Reproductive Medicine
基金
十堰市市级引导性科研项目(21Y94)。
作者简介
赵蕾,女,湖北十堰人,硕士研究生,受精机理与发育工程学专业;通讯作者:李娟,Email:24763995@qq.com。
