Association of methylenetetrahydrofolate reductase polymorphisms with susceptibility to Alzheimer's disease
Association of methylenetetrahydrofolate reductase polymorphisms with susceptibility to Alzheimer's disease
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DOI：
10.1016/j.clineuro.2013.03.015
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发表时间：
2013-09-01
影响因子：
1.9
通讯作者：
Mrissa, Ridha
中科院分区：
文献类型：
--
作者：
Mansouri, Leila;Fekih-Mrissa, Najiba;Mrissa, Ridha
背景：遗传危险因素在阿尔茨海默病(AD)的发病机制中起重要作用。在这项病例对照研究中，我们检测了亚甲基四氢叶酸还原酶(MTHFR)基因C677T和Al298C的多态性及其与本病的相关性。目的：探讨亚甲基四氢叶酸还原酶C677T和Al298C基因多态性与阿尔茨海默病的关系。病例组38例，非痴呆组100例。结果：基因分析未发现亚甲基四氢叶酸还原酶C677T突变与AD有显著关联(C/T：63.15%对39%，p=0.087)。然而，MTHFR Al298C错义变异的基因频率在患者组和对照组之间差异有统计学意义(A/C：55%比7%，P
Background: Genetic risk factors play an important role in the pathogenesis of Alzheimer's disease (AD). In this case-control study, we examined the C677T and Al298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and their correlation with this pathology. Objective: To verify the association between MTHFR C677T and Al298C polymorphisms and Alzheimer's disease.Method: This work was conducted as a case-control study. Cases consisted of thirty-eight patients and 100 individuals without dementia constituted the control group. Genotyping of MTHFR polymorphisms was performed on patients and controls.Result: Genetic analyses did not indicate a significant association between the MTHFR C677T mutation and AD (C/T: 63.15% versus 39%, p = 0.087). However, the genotype prevalence of the missense variant MTHFR Al298C was significantly different between patients and controls (A/C: 55% versus 7%, p