title: Lack of association between the C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece.
abstract: BACKGROUND
  Hyperhomocysteinemia has been associated with venous thrombosis. Under known and unknown conditions the C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene is accompanied by elevated levels of homocysteine. However, the relationship of this mutation with venous thromboembolism (VTE) remains controversial. The purpose of this study was to evaluate the association of the MTHFR mutation with VTE.
  
  
  METHODS
  The presence of the C677T mutation in the MTHFR gene was investigated in a population of 176 consecutive patients with a history of venous thromboembolism and in a control group of 300 healthy subjects, using DNA analysis.
  
  
  RESULTS
  The prevalence of homozygosity in the patient group was 13.6% and in healthy subjects 10%. The odds ratio for venous thromboembolism in the presence of the homozygous genotype (677TT) was 1.4 (95% confidence interval (C.I.), 0.8 to 2.5), which was not statistically significant.
  
  
  CONCLUSIONS
  Homozygosity for the T677 allele of the MTHFR gene, although slightly more prevalent in patients compared to controls, has not been found in association with venous thromboembolism.
authors.affiliation: Department of Orthopaedic Surgery, Unit of Molecular Biology, University Hospital of Ioannina, Ioannina, Greece.
authors.forename: Ch G
authors.initials: ChG
authors.lastname: Zalavras
authors.forename: S
authors.initials: S
authors.lastname: Giotopoulou
authors.forename: E
authors.initials: E
authors.lastname: Dokou
authors.forename: M
authors.initials: M
authors.lastname: Mitsis
authors.forename: H V
authors.initials: HV
authors.lastname: Ioannou
authors.forename: A
authors.initials: A
authors.lastname: Tzolou
authors.forename: N
authors.initials: N
authors.lastname: Kolaitis
authors.forename: G
authors.initials: G
authors.lastname: Vartholomatos
mesh_terms: D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D000328:Adult; D004252:DNA Mutational Analysis; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006115:Greece; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation / Q000235:genetics*; D016017:Odds Ratio; D010088:Oxidoreductases / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D013923:Thromboembolism / Q000209:etiology / Q000235:genetics*; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics*
chemical_list: D010088:Oxidoreductases; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042965:Methylenetetrahydrofolate Reductase (NADPH2)