论文部分内容阅读
目的前瞻性观察N5、N10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性对缺血性卒中(IS)再发及死亡事件发生的影响,为进一步对IS综合干预提供有用情报。方法检测245例IS患者及52例健康对照者空腹血浆同型半胱氨酸(Hcy)水平及MTHFR基因C677T多态性,并在5年内追踪观察患者IS再发及死亡事件的发生情况。结果T/T纯合型IS再发率显著高于C/T杂合型和C/C野生型(P<0.05),C/T杂合型高于C/C野生型,但差异无显著性(P>0.05)。各基因型之间随访脑梗死再发率、TIA再发率、多次再发患者比例、及死亡发生率差异均无显著性,但均为T/T纯合型高于C/T杂合型,后者高于C/C野生型。Logistic回归分析显示Hcy升高是再发IS的独立危险因素(OR为1.171,95%CI:1.118～1.227,P<0.01),而MTHFR基因C677T突变未进入回归模型。结论血浆Hcy水平升高与IS再发密切相关,MTHFR基因C677T突变导致血浆Hcy水平升高,是再发IS遗传易感因素。
Objective To prospectively observe the effect of C677T polymorphism of N5 and N10-methylenetetrahydrofolate reductase (MTHFR) gene on the recurrence and death of ischemic stroke (IS) and provide useful information for further comprehensive intervention of IS . Methods Fasting plasma homocysteine (Hcy) level and C677T polymorphism of MTHFR were detected in 245 IS patients and 52 healthy controls. The incidence of recurrence and death of IS patients was followed up within 5 years. Results The recurrence rate of T / T homozygous IS was significantly higher than that of C / T heterozygous and C / C wild type (P <0.05), C / T heterozygous was higher than that of C / C wild type, but the difference was insignificant (P> 0.05). There was no significant difference in the relapse rate of cerebral infarction, recurrence rate of TIA, multiple recurrence patients and the incidence of death among all genotypes, but all of them were higher in T / T homozygote than in C / T heterozygosity Type, which is higher than the C / C wild type. Logistic regression analysis showed that elevated Hcy was an independent risk factor for recurrent IS (OR 1.171, 95% CI: 1.118-1.227, P <0.01), while MTHFR C677T mutation did not enter the regression model. Conclusions The plasma Hcy level is closely related to the recurrence of IS. The C677T mutation of MTHFR gene leads to the elevation of plasma Hcy, which is a genetic susceptibility to recurrent IS.