亚甲基四氢叶酸还原酶基因rs4846049G／T多态性与中国汉族人群缺血性卒中的相关性

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

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。

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 ischemie stroke （odds ratio E 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 Hart population.