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.

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.

• Authors: Leila Mansouri, Najiba Fekih-Mrissa, Sarra Klai, Malek Mansour, Nasreddine Gritli, Ridha Mrissa
• Journal: Clinical neurology and neurosurgery (Clin Neurol Neurosurg) Vol. 115 Issue 9 Pg. 1693-6 (Sep 2013) ISSN: 1872-6968 [Electronic] Netherlands
• PMID: 23659764 (Publication Type: Journal Article)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• Homocysteine
• MTHFR protein, human
• Methylenetetrahydrofolate Reductase (NADPH2)

Topics

• Aged
• Aged, 80 and over
• Alleles
• Alzheimer Disease (epidemiology, genetics)
• Female
• Gene Frequency
• Genetic Predisposition to Disease
• Genotype
• Homocysteine (blood)
• Humans
• Male
• Methylenetetrahydrofolate Reductase (NADPH2) (genetics)
• Middle Aged
• Mutation (genetics, physiology)
• Mutation, Missense (genetics)
• Polymorphism, Genetic (genetics)
• Risk Factors