A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease.
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.
Franco
R F
RF
Department of Clinical Medicine, School of Medicine of Ribeirão Preto, 14048900 Ribeirão Preto-SP, Brazil. rendri@hotmail.com
Morelli
V
V
Lourenço
D
D
Maffei
F H
FH
Tavella
M H
MH
Piccinato
C E
CE
Thomazini
I A
IA
Zago
M A
MA
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*
D010088:Oxidoreductases; D045102:Methylenetetrahydrofolate Dehydrogenase (NAD+)