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

BackgroundGenetic 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.ObjectiveTo verify the association between MTHFR C677T and A1298C polymorphisms and Alzheimer's disease.MethodThis 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.ResultGenetic 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.ConclusionThe MTHFR A1298C polymorphism is a possible risk factor for Alzheimer's disease.