ABSTRACT
PURPOSE. To evaluate the association between the C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and deep venous thrombosis (DVT) in young people. METHODS. The prevalence of the C677T mutation in the MTHFR gene was investigated in a population of 97 consecutive and unrelated patients with an objectively documented first episode of DVT under 40 years old and in a control group of 100 healthy subjects, using DNA analysis. FINDINGS. The frequency of genotypes amongst patients was 0.10 TT, 0.44 CT and 0.46 CC and in the control group the results were respectively 0.11, 0.40 and 0.49. The odds ratio (OR) for homozygous genotype 677TT was 1.0 (95% CI: 0.4- 2.6), which was not statistically significant (p=0.86). CONCLUSION. In this study, the C677T mutation in the MTHFR gene, including the homozygous mutant genotype, was not associated with an increased risk of deep venous thrombosis in young people (AU)
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