Balcerzyk Anna, Niemiec Paweł, Kopyta Ilona, Emich-Widera Ewa, Pilarska Ewa, Pienczk-Ręcławowicz Karolina, Kaciński Marek, Wendorff Janusz, Żak Iwona
Department of Biochemistry and Medical Genetics, School of Health Sciences, Medical University of Silesia, Katowice, Poland.
Department of Biochemistry and Medical Genetics, School of Health Sciences, Medical University of Silesia, Katowice, Poland.
J Stroke Cerebrovasc Dis. 2015 Jan;24(1):61-5. doi: 10.1016/j.jstrokecerebrovasdis.2014.07.034. Epub 2014 Oct 16.
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 genotyped 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.
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，它调节同型半胱氨酸代谢，该酶编码基因的一些多态性与酶活性降低有关。本研究的目的是评估A1298C多态性与小儿中风之间的关联。我们还评估了该基因A1298C和C677T多态性可能的协同效应。研究组包括88例缺血性中风患儿、142例患儿父母和111例对照。采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系的关联检验。所有分析均使用Statistica 7.1和EpiInfo 6软件。在基于家系的检验中，我们未观察到A等位基因传递的统计学显著差异，在患者组与对照组中，A等位基因频率也无统计学显著差异。我们也未发现A1298C和C677T多态性之间有任何显著的相加或协同效应。对本研究结果的分析以及对先前发表研究的批判性综述表明，MTHFR基因的A1298C多态性与儿童缺血性中风无关。
