亚甲基四氢叶酸还原酶基因多态性与阿尔茨海默病易感性的关联
Association of methylenetetrahydrofolate reductase polymorphisms with susceptibility to Alzheimer's disease.
作者信息
Mansouri Leila, Fekih-Mrissa Najiba, Klai Sarra, Mansour Malek, Gritli Nasreddine, Mrissa Ridha
机构信息
Laboratory of Molecular Biology, Department of Hematology, Military Hospital, Tunis, Tunisia.
出版信息
Clin Neurol Neurosurg. 2013 Sep;115(9):1693-6. doi: 10.1016/j.clineuro.2013.03.015. Epub 2013 May 6.
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 A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and their correlation with this pathology.
OBJECTIVE
To verify the association between MTHFR C677T and A1298C 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 A1298C was significantly different between patients and controls (A/C: 55% versus 7%, p<10(-3)). Our data suggest an association between the MTHFR A1298C mutation and AD; however, the MTHFR C677T mutation did not contribute to susceptibility for AD.
CONCLUSION
The MTHFR A1298C polymorphism is a possible risk factor for Alzheimer's disease.
背景
遗传风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）基因的C677T和A1298C多态性及其与该疾病的相关性。
目的
验证MTHFR基因C677T和A1298C多态性与阿尔茨海默病之间的关联。
方法
本研究为病例对照研究。病例组由38例患者组成，100例无痴呆的个体构成对照组。对患者和对照组进行MTHFR多态性基因分型。
结果
基因分析未表明MTHFR C677T突变与AD之间存在显著关联（C/T：63.15%对39%，p = 0.087）。然而，错义变异MTHFR A1298C的基因型频率在患者和对照组之间存在显著差异（A/C：55%对7%，p < 10⁻³）。我们的数据表明MTHFR A1298C突变与AD之间存在关联；然而，MTHFR C677T突变对AD易感性无影响。
结论
MTHFR A1298C多态性可能是阿尔茨海默病的一个风险因素。
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