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首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >Methylenetetrahydrofolate Reductase Gene A1298C Polymorphism in Pediatric Stroke-Case-Control and Family-based Study
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Methylenetetrahydrofolate Reductase Gene A1298C Polymorphism in Pediatric Stroke-Case-Control and Family-based Study

机译：亚甲基四氢叶酸还原酶基因A1298C多态性在小儿中风病例控制和基于家庭的研究中

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摘要

Moderate hyperhomocysteinemia is one of the risk factors of pediatric stroke. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme, which regulates homocysteine metabolism, and some polymorphisms of gene encoding this enzyme are associated with a decreased activity of the enzyme. The aim of the study was to assess an association between the A1298C polymorphism and pediatric stroke. We also evaluated a possible synergistic effect of A1298C and C677T polymorphisms of this gene. The study group consisted of 88 children after ischemic stroke, 142 of their parents and 111 controls. The A1298C polymorphism was geno-typed using the restriction fragment length polymorphism method. We used 2 study designs: a case-control model and a family-based association test. The Statistica 7.1 and EpiInfo 6 softwares were used in all analyses. We did not observe any statistically significant differences either in the transmission of the A allele in the family-based test or in the frequency of the A allele in the patients group compared with the controls. We also did not notice any significant additive or synergistic effects between the A1298C and C677T polymorphisms. An analysis of the results obtained in this study and a critical review of previously published studies indicate that the A1298C polymorphism of the MTHFR gene is not related to ischemic stroke in children.
机译：中度高同型半胱氨酸血症是小儿中风的危险因素之一。亚甲基四氢叶酸还原酶（MTHFR）是一种重要的酶，调节同型半胱氨酸代谢，并且编码该酶的基因的某些多态性与该酶的活性降低有关。该研究的目的是评估A1298C多态性与小儿卒中之间的关联。我们还评估了该基因的A1298C和C677T多态性的可能的协同作用。该研究小组由88名缺血性中风后的儿童，142名父母和111名对照组组成。使用限制性片段长度多态性方法对A1298C多态性进行基因分型。我们使用了两种研究设计：病例对照模型和基于家庭的关联测试。所有分析均使用Statistica 7.1和EpiInfo 6软件。与对照组相比，在基于家庭的测试中，A等位基因的传播或患者组中A等位基因的频率均未观察到任何统计学上的显着差异。我们也没有注意到A1298C和C677T多态性之间有任何明显的加性或协同作用。对本研究获得的结果进行的分析以及对先前发表的研究的严格评论表明，MTHFR基因的A1298C多态性与儿童缺血性卒中无关。

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