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

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<10-3). Our data suggest an association between the MTHFR Al298C mutation and AD; however, the MTHFR C677T mutation did not contribute to susceptibility for AD. Conclusion: The MTHFR Al298C polymorphism is a possible risk factor for Alzheimer's disease. (C) 2013 Elsevier B.V. All rights reserved.