亚甲基四氢叶酸还原酶基因rs4846049 G/T多态性与中国汉族人群缺血性卒中的相关性

目的：探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolatereductase, MTHFR)基因3'-非翻译区rs4846049 G/T多态性与中国汉族人群缺血性卒中发病风险的相关性。方法采用病例对照研究设计,选取396例缺血性卒中患者和378名健康体检者(对照组),病例组大动脉粥样硬化和小动脉闭塞型分别为268例和128例。采用聚合酶链反应-限制性片段长度多态性和直接测序法检测MTHFR 基因rs4846049 G/T多态性。结果以GG基因型为参照,TT基因型使缺血性卒中发病风险显著增高优势比(odds ratio, OR)2．87,95%可信区间(confidence interval, CI)1．43~5．76；P=0．003]；与G 等位基因比较,T 等位基因使发病风险显著增高( OR 1．62,95% CI 1．28~2．06；P<0．001)。亚组分析显示, rs4846049 G/T 多态性可显著增高 LAA 和 SAO 亚型卒中的发病风险(P均<0．05)。结论 MTHFR基因rs4846049 G/T多态性可能与中国汉族人群缺血性卒中易感性增高有关,T等位基因可能是中国汉族人群缺血性卒中的遗传危险因素。

Correlation between methylenetetrahydrofolate reductase rs4846049 G/T polymorphism and ischemic stroke in a Chinese Han population

Objective To investigate the correlation between methylenetetrahydrofolate reductase (MTHFR) gene 3 '-untranslated region rs4846049 G/T polymorphism and risk of ischemic stroke in a Chinese Han population. Methods A total of 396 patients with ischemic stroke and 378 healthy subjects (control group ) were selected using a case-control study design. Large artery atherosclerosis and small artery occlusion in the case group were 268 and 128 cases, respectively. Polymerase chain reaction-restriction fragment length polymorphism and the direct sequencing method were used to detect MTHFR gene rs4846049 G/T polymorphism. Results As compared to the GG genotype, the TT genotype significantly increased the risk of ischemic stroke (odds ratio OR] 2. 87, 95% confidence interval CI] 1. 43-5. 76;P=0. 003). Compared with G allele, T allele significantly increased the risk of the disease (OR 1. 62, 95% OR 1. 28-2. 06; P< 0. 001 ). Subgroup analyses showed that the rs4846049 G/T polymorphism could significantly increase the onset risks of LAA and SAO subtype stroke (all P<0.05). Conclusions MTHFR gene rs4846049 G/T polymorphism may be associated with the increased susceptibility to ischemic stroke in the Chinese Han population. The T allele may be a genetic risk factor for ischemic stroke in the Chinese Han population.