title: 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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  The MTHFR A1298C polymorphism is a possible risk factor for Alzheimer's disease.
authors: Laboratory of Molecular Biology, Department of Hematology, Military Hospital, Tunis, Tunisia.
authors: Leila
authors: L
authors: Mansouri
authors: Najiba
authors: N
authors: Fekih-Mrissa
authors: Sarra
authors: S
authors: Klai
authors: Malek
authors: M
authors: Mansour
authors: Nasreddine
authors: N
authors: Gritli
authors: Ridha
authors: R
authors: Mrissa
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics / Q000502:physiology; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D012307:Risk Factors
chemical_list: D006710:Homocysteine; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Alzheimer's disease; Human; MTHFR protein; Risk factor