title: A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease.
abstract: 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.
authors.affiliation: Department of Clinical Medicine, School of Medicine of Ribeirão Preto, 14048900 Ribeirão Preto-SP, Brazil. rendri@hotmail.com
authors.forename: R F
authors.initials: RF
authors.lastname: Franco
authors.forename: V
authors.initials: V
authors.lastname: Morelli
authors.forename: D
authors.initials: D
authors.lastname: Lourenço
authors.forename: F H
authors.initials: FH
authors.lastname: Maffei
authors.forename: M H
authors.initials: MH
authors.lastname: Tavella
authors.forename: C E
authors.initials: CE
authors.lastname: Piccinato
authors.forename: I A
authors.initials: IA
authors.lastname: Thomazini
authors.forename: M A
authors.initials: MA
authors.lastname: Zago
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D045102:Methylenetetrahydrofolate Dehydrogenase (NAD+); D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics*; D012307:Risk Factors; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: D010088:Oxidoreductases; D045102:Methylenetetrahydrofolate Dehydrogenase (NAD+)