MTHFRC677T和MSA2756G基因多态性与精液质量相关性研究

目的:探讨亚甲基四氢叶酸还原酶(MTHFR) C677T 和甲硫氨酸合成酶(MS) A2756G 基因多态性与我国男性精液质量的相关性。方法:选取特发性少、弱、畸精症患者75 例为实验组, 有正常孕育史和精液质量正常的男性72 例为对照组, 分析MTHFR C677T 及MS A2756G 基因多态性在两组中分布的差异, 检测两组中血同型半胱氨酸(homocysteine, Hcy) 水平。结果:精液异常组中MTHFR 基因C677T 多态性CT, TT 及CT+TT 型的分布频率均高于对照组中相应基因型的分布频率(P<0.05), T 等位基因在精液异常组中的分布频率亦高于对照组(P<0.05)。MSA2756G 基因多态性各基因型及等位基因在对照组和精液异常组中的分布频率差异无统计学意义(P>0.05)。精液异常组的Hcy 水平高于对照组(P<0.05)。所有研究对象中, MTHFR677CT, TT 及CT+TT 型的Hcy 水平均高于CC 型( 分别P<0.05, P<0.01, P<0.01)。MS2756AA, AG 及GG 型的Hcy 水平比较无明显差异(P>0.05)。结论:MTHFR C677T基因的CT 型及TT 型多态性改变与我国男性精液异常密切相关, 可能是导致精液异常的原因之一;T 等位基因可能是导致精液异常的危险因素。MTHFR C677T 基因多态性的改变可能通过高Hcy 途径影响男性精液质量。MS A2756G基因多态性与我国男性精液质量无关。

Association of MTHFR C677T and MS A2756G polymorphism with semen quality

Objective: To investigate the association of MTHFR C677T and MS A2756G polymorphism withsemen quality in China.
Methods: The experimental group included 75 males with oligospermia, asthenospermia orteratospermia. The control group included 72 fertile males with normal fertility and sperm quality.The differences in the frequency of genetic polymorphism of MTHFR C677T and MS A2756G inthe 2 groups were analyzed, and the plasma homocysteine (Hcy) level in both groups was detected.
Results: The frequency of MTHFR C677T genotypes (CT, TT and CT+TT) in the abnormal sperm group was higher than that in the control group (P<0.05), and it was the same case for T allelebetween the 2 groups (P<0.05). There was no difference in the frequency of MS A2756G genotypesbetween the two groups (P>0.05). The Hcy level in abnormal sperm group was higher than that inthe control group. In all subjects, the Hcy level of the MTHFR genotypes (CT, TT and CT+TT) washigher than that of the CC genotype, with no difference among the three MS A2756G genotypes.
Conclusion: CT and TT genotypes of MTHFR C677T are associated with abnormal sperm, whichmight be part of the pathogenesis of abnormal sperms. T allele may be the risk factor in China. Theone mechanism of the association between MTHFR C677T polymorphism and semen qualitycould be higher Hcy level. MS A2756G polymorphism may not associate with semen quality in China.