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Artigo Acesso aberto Produção Nacional Revisado por pares
BIBTEX RIS

A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease

1999; Wiley; Volume: 105; Issue: 2 Linguagem: Inglês

10.1111/j.1365-2141.1999.01254.x

ISSN

1365-2141

Autores

Rendrik F. Franco, Vânia M. Morelli, Dayse Maria Lourenço, Francisco Humberto de Abreu Maffei, M. H. Tavella, Carlos Eli Piccinato, Izolete Aparecida Thomazini, Marco A. Zago,

Tópico(s)

Venous Thromboembolism Diagnosis and Management

Resumo

We assessed the effect of a recently described mutation in the MTHFR gene (1298 A → C) on the risk of deep venous thrombosis (DVT) by determining its prevalence in 190 patients with verified DVT and in age‐, race‐ and gender‐matched controls. MTHFR 1298 A → C was found in 42.1% of patients and in 41.1% of controls. The OR for venous thrombosis was 1.07 (95% CI 0.70–1.65) for heterozygotes and 0.83 (95% CI 0.33–2.08) for homozygotes. The OR for the factor V Leiden (FVL) mutation was 3.40 (95% CI 1.22–9.48), for FII 20210 G → A was 5.22 (95% CI 1.12–24.2) and for MTHFR 677 C → T, 1.24 (95% CI 0.82–1.87). No significant increased risk for venous thrombosis was found when MTHFR 1298 A → C was coinherited with FVL (OR 2.85, 95% CI 0.88–9.23), FII 20210 G → A (OR 7.19, 95% CI 0.87–59.4) or MTHFR 677 C → T (OR 1.44, 95% CI 0.71–2.92). These data do not support a critical role of MTHFR 1298 A → C in the predisposition to DVT.

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