title: Association of Methylenetetrahydrofolate Reductase C677T Polymorphism with Hyperhomocysteinemia and Deep Vein Thrombosis in the Iranian Population.
abstract: OBJECTIVE
  Deep venous thrombosis (DVT) is a common but elusive condition characterized by a high morbidity and mortality rate. The aim of the present study was to investigate the correlation between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with plasma total homocysteine (tHcy) levels and DVT risk in an Iranian population.
  
  
  METHODS
  Our study population consisted of 67 patients with a diagnosis of DVT and 67 healthy subjects as controls. Genotyping of MTHFR C677T polymorphism was performed by the polymerase chain reaction technique combined with restriction enzyme fragment length polymorphism (PCR-RFLP) and measurement of tHcy levels was done by enzyme immunoassay method.
  
  
  RESULTS
  Plasma tHcy levels were significantly higher in DVT patients than controls (18.09±7.6 vs. 10.5±4.3, P=0.001). Also, plasma tHcy levels were significantly higher in MTHFR 677TT genotypes compared to 677CC genotypes in both DVT patients (P=0.016) and controls (P=0.03). Neither heterozygote nor homozygote genotypes of MTHFR C677T polymorphism was significantly correlated with DVT (P>0.05). The distribution of MTHFR C677T genotypes was similar between men and women in both DVT patients and controls (P>0.05). Moreover, the frequency of mutant 677T allele did not differ significantly between the two groups (28.3% vs. 21.6%, P=0.15).
  
  
  CONCLUSIONS
  Based on this study, we propose that hyperhomocysteinemia but not homozygosity for MTHFR C677T polymorphism is a significant risk factor for DVT in the Iranian population. Also, MTHFR 677TT genotype is a determinant of elevated plasma tHcy levels.
authors.affiliation: Cellular and Molecular Research Centre, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Habib
authors.initials: H
authors.lastname: Ghaznavi
authors.affiliation: Department of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Soheili
authors.affiliation: Iranian Blood Transfusion Organization, Tehran, Iran.
authors.forename: Shahram
authors.initials: S
authors.lastname: Samiei
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: Deep venous thrombosis; Genetic polymorphism; Homocysteine; Methylenetetrahydrofolate reductase