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Association of methylenetetrahydrofolate reductase polymorphisms with susceptibility to Alzheimer's disease

Abstract 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. Objectiv...

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Published in:Clinical neurology and neurosurgery 2013-09, Vol.115 (9), p.1693-1696
Main Authors: Mansouri, Leila, Fekih-Mrissa, Najiba, Klai, Sarra, Mansour, Malek, Gritli, Nasreddine, Mrissa, Ridha
Format: Article
Language:English
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Summary:Abstract 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.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2013.03.015