title: Association study of methylenetetrahydrofolate reductase A1298C mutation with cerebral venous thrombosis risk in an Iranian population.
abstract: BACKGROUND
  Cerebral venous thrombosis (CVT) is an uncommon condition characterized by severe clinical manifestations and high mortality rate. There is limited data on the role of methylenetetrahydrofolate reductase (MTHFR) A1298C mutation as a risk factor for CVT development in Iranians.
  
  
  OBJECTIVE
  The aim was to investigate a possible association between fasting plasma homocysteine (Hcy) levels, MTHFR A1298C mutation, and CVT in Iranian population.
  
  
  METHODS
  The study population consisted of 50 patients with a diagnosis of CVT (20-63 years old) and 75 healthy subjects (18-65 years old) as control. Genotyping of the MTHFR A1298C mutation and Hcy measurement was carried out by polymerase chain reaction-restriction fragment length polymorphism technique and enzyme immunoassay method, respectively.
  
  
  RESULTS
  Fasting plasma total Hcy levels were significantly higher in CVT patients than controls (P = 0.015). No significant differences were observed in the MTHFR A1298C genotypes frequency between CVT patients and controls (P > 0.05). The frequency of the 1298C allele was 36% and 37.5% in CVT patients and controls, respectively and did not differ significantly between the two groups (P = 0.16).
  
  
  CONCLUSIONS
  Our study demonstrated that MTHFR A1298Cmutation is not a significant risk factor for CVT.
authors.affiliation: Cellular and Molecular Research Centre, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Ghaznavi
authors.initials: G
authors.lastname: Habib
authors.affiliation: Department of Molecular Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
authors.forename: Soheili
authors.initials: S
authors.lastname: Zahra
authors.affiliation: Iranian Blood Transfusion Organization, Tehran, Iran.
authors.forename: Samiei
authors.initials: S
authors.lastname: Shahram
authors.affiliation: Department of Laboratory Sciences, School of Paramedical Sciences, Zanjan University of Medical Sciences, Zanjan, Iran.
authors.forename: Mohammad Soleiman
authors.initials: MS
authors.lastname: Soltanpour
keywords: Homocysteine; methylenetetrahydrofolate reductase; mutation; polymerase chain reaction-restriction fragment length polymorphism; thrombosis