血浆同型半胱氨酸水平及其代谢酶N5,N10亚甲基四氢叶酸脱氢还原酶基因多态性与Binswanger病的关系

Association between the plasma homocysteine level,gene polymorphism of N5,N10 methylene tetrahydrofolate reductase and Binswanger's disease

目的探讨血浆同型半胱氨酸(Hcy)水平及其相关代谢酶N5,N10亚甲基四氢叶酸脱氢还原酶(MTHFR)基因多态性与Binswanger病(BD)的关系。方法应用荧光极化免疫法测定77例BD患者和71名健康体检者(健康对照组)的血浆Hcy水平,采用多聚酶链反应限制性片段长度多态性检测MTHFR基因C677T多态性。结果BD组患者血浆Hcy水平为(19.83±2.23)μmol/L,显著高于健康对照组的(13.03±3.79)μmol/L(P<0·01)。BD组和健康对照组间MTHFR各基因型分布和等位基因频率比较差异无显著性(均P>0·05)。各基因型之间血浆Hcy含量差异亦无显著性(均P>0·05)。结论BD患者血浆Hcy水平明显高于健康人,高Hcy血症可能参与了BD的发病过程;而MTHFR基因多态性与BD可能无明显关系。

Objective To investigate the association between the plasma homocysteine level, N5, N10 methylene tetrahydrofolate reductase （MTHFR） gene polymorphism and Binswanger＇s disease（BD）. Methods 77 BD patients and 71 normal controls were selected to determine the plasma homocysteine （Hcy） level by fluorescence polarization immunoassay and the MTHFR gene C677T genotypes were measured by polymerase chain reactionRestriction Fragment Length Polymorphism. Results Plasma Hcy levels were significantly higher in BD patients （19.83 ± 2.23 ）μmot/L than those of in the controls（ 13.03 ± 3.79）μmot/L（ P 〈 0. 01 ）. There were no significant differences between the frequencies and alleles of C677T mutations in BD patients and in the controls （ all P 〉 0. 05 ）. The levels of plasma Hcy were also no significant differences among the three genotypes （ all P 〉 0. 05 ）. Conclusions The level of plasma Hcy in BD patients are higher than that of in the controls. Hyperhomocysteine may take part in the pathogenesis of BD, but the MTHFR gene C677T genotypes are not associated with BD.