title: Association of methylenetetrahydrofolate reductase A1298C polymorphism but not of C677T with multiple sclerosis in Tunisian patients.
abstract: OBJECTIVE
  Multiple sclerosis (MS) is a chronic neurological disease characterized by central nervous system (CNS) inflammation and demyelination of nerve axons. The aim of this study was to investigate a possible association between the methylenetetrahydrofolate reductase (MTHFR) gene and multiple sclerosis in Tunisian patients.
  
  
  METHODS
  The genotyping of two missense variants of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C was performed in 80 multiple sclerosis patients and 200 healthy controls.
  
  
  RESULTS
  No significant differences were found in the frequency of the MTHFR C677T polymorphism between MS patients and healthy controls. 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); C/C: 13.75% versus 0%, p<10(-3), respectively).
  
  
  CONCLUSIONS
  Although our preliminary findings suggest no association between the MTHFR C677T variants and MS, there is evidence to suggest a significant association between the MTHFR A1298C polymorphisms and MS.
authors.affiliation: Laboratory of Molecular Biology, Department of Hematology, Military Hospital of Tunisia, Tunis, Tunisia. fnajiba@yahoo.fr
authors.forename: Najiba
authors.initials: N
authors.lastname: Fekih Mrissa
authors.forename: Meriem
authors.initials: M
authors.lastname: Mrad
authors.forename: Sarra
authors.initials: S
authors.lastname: Klai
authors.forename: Jamel
authors.initials: J
authors.lastname: Zaouali
authors.forename: Aycha
authors.initials: A
authors.lastname: Sayeh
authors.forename: Chakib
authors.initials: C
authors.lastname: Mazigh
authors.forename: Brahim
authors.initials: B
authors.lastname: Nsiri
authors.forename: Salem
authors.initials: S
authors.lastname: Machgoul
authors.forename: Nasreddine
authors.initials: N
authors.lastname: Gritli
authors.forename: Ridha
authors.initials: R
authors.lastname: Mrissa
mesh_terms: D000293:Adolescent; D000328:Adult; D003627:Data Interpretation, Statistical; 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; D009103:Multiple Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D014416:Tunisia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D006710:Homocysteine; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Methylenetetrahydrofolate reductase polymorphism; Multiple sclerosis