缺血性脑卒中患者血浆同型半胱氨酸水平和MTHFR基因多态性分析

摘要

Objective:To investigate the relationship between the homocysteine (HCY) level and polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene in patients with ischemic stroke in Wuhan.Methods:One hundred and eighty-one stroke patients (stroke group) and 126 healthy volunteers (control group) were enrolled.The plasma levels of HCY,folic acid,VitB12 and the MTHFR gene polymorphism were compared between the 2 groups.The plasma levels of HCY,folio acid and VitB12 were compared among patients with different genotypes in the stroke group.Results:The plasma level of HCY was significantly higher in the stroke patients than that in the control ones (P＜0.05).While the levels of folic acid and VitB12 were significantly lower in the stroke patients than those in the control group (P＜0.05).There was a significant difference in the allele of the MTHFR gene in the T allele rate and T/T rate between the 2 groups (P＜0.05).In addition,the level of HCY in patients with homozygous mutant (T/T) and heterozygotes mutant (C/T) was significantly higher than that in the control group (P＜0.05).In stroke group,the level of HCY in homozygous mutant (T/T) was significantly higher than that of C/C wild type and C/T heterozygous mutant,and the level of folic acid of T/T was significantly lower than that of C/C and C/T (P＜ 0.05).Conclusion:MTHFR gene 677 locus homozygous mutation may be a factor for the increase of plasma HCY level in ischemic stroke patients,as well as the levels of folic acid and VitB12.%目的:探讨缺血性脑卒中患者血浆同型半胱氨酸(HCY)水平和亚甲基四氢叶酸还原酶基因MTHFR多态性的关系.方法:缺血性脑卒中患者181例纳入卒中组,健康人126例纳入对照组.检测2组HCY、叶酸、VitB12水平、MTHFR基因多态性及一般情况,并分析不同基因型的脑卒中患者血浆HCY、叶酸、VitB12水平.结果:卒中组的HCY水平均显著高于对照组(P＜0.05),而VitB12、叶酸水平均显著低于对照组(P＜0.05).卒中组MTHFR基因TT纯合子率及T等位基因频率均显著高于对照组(P＜0.05),而C/C野生型频率及C等位基因频率均显著低于对照组(P＜0.05).卒中组MTHFR基因C/T杂合突变型及T/T纯合突变型HCY水平均显著性高于对照组,T/T纯合突变型叶酸水平显著性低于对照组(P＜0.05).卒中组内T/T纯合突变型HCY水平显著高于C/C野生型及C/T杂合突变型,叶酸水平显著低于C/C型和C/T型(P＜0.05).结论:缺血性脑卒中患者MTHFR基因677位点的纯合突变可能是血浆HCY水平升高的影响因素,叶酸、VitB12缺乏亦与HCY升高有关联.