Hyperhomocysteinemia is reported to be an independent risk factor for the development of ischemic stroke. Several studies on genetic variants of methylenetetrahydrofolate reductase (MTHFR, which plays a crucial role in regulation of plasma homocysteine concentration) reported an association between C677T gene polymorphism and stroke in some Asian populations. No study but one detected this association in Caucasians. The purpose of the present case-control study was to find a relationship betweenMTHFR genotypes and stroke in a Polish population.MTHFR genotypes were determined by PCR in 152 patients with ischemic stroke from northwestern Poland and in 135 consecutive newborns from the same population. The TT genotype and the T allele were significantly more frequent in patients than in the control group (11.8% vs. 4.4%, and 34.5% vs. 21.5%,P < 0.01). When males and females were analyzed separately, the differences were statistically significant in both genders. It is concluded that presence of the T allele is a risk factor for ischemic stroke in Polish subjects.

中文翻译：

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亚甲基四氢叶酸还原酶基因的 C677T 多态性和波兰受试者缺血性中风的风险。

据报道，高同型半胱氨酸血症是发生缺血性中风的独立危险因素。几项关于亚甲基四氢叶酸还原酶（MTHFR，在调节血浆同型半胱氨酸浓度中起关键作用）遗传变异的研究报告了 C677T 基因多态性与某些亚洲人群中风之间的关联。没有研究，但有一项在白种人中发现了这种关联。本病例对照研究的目的是在波兰人群中发现MTHFR基因型与中风之间的关系。MTHFR来自波兰西北部的 152 名缺血性卒中患者和来自同一人群的 135 名连续新生儿的基因型通过 PCR 确定。TT 基因型和 T 等位基因在患者中的频率明显高于对照组（11.8% vs. 4.4%，34.5% vs. 21.5%，P < 0.01）。当分别分析男性和女性时，两种性别的差异具有统计学意义。得出的结论是，T 等位基因的存在是波兰受试者缺血性中风的危险因素。