BACKGROUND ABO blood type locus has been reported to be an important genetic determinant of venous and arterial thrombosis in genome-wide association studies. We tested the hypothesis that ABO blood type alone and in combination with mutations in factor V Leiden R506Q and prothrombin G20210A is associated with the risk of venous thromboembolism and myocardial infarction in the general populatio...

The aim of this study was to investigate the relationship between recurrent miscarriages and factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase (MTHFR) mutations. In this case-control study the prevalence of factor V Leiden, prothrombin G20210A and C677T methylenetetrahydrofolate reductase mutations was determined in a consecutive series of 80 recurrent miscarria...

BACKGROUND The effect of the coagulation factor V Leiden mutation on infectious disease susceptibility and outcome is controversial. METHODS We genotyped 9253 individuals from the Copenhagen City Heart Study for the factor V Leiden mutation. The risk of hospitalization for any infectious disease during a follow-up period of 7.2 years and subsequent risk of disease progression to death were es...

Increased levels of hemostatic factors and genetic mutations of proteins involved in coagulation may play a role in the pathogenesis of coronary artery disease. We investigated clotting activity of factors II (FII:C), V (FV:C), VII (FVII:C), and X (FX:C), the prothrombin gene 20210G3A transition, and the factor V Leiden mutation in 200 survivors of myocardial infarction and in 100 healthy contr...

Increased levels of hemostatic factors and genetic mutations of proteins involved in coagulation may play a role in the pathogenesis of coronary artery disease. We investigated clotting activity of factors II (FII:C), V (FV:C), VII (FVII:C), and X (FX:C), the prothrombin gene 20210G3A transition, and the factor V Leiden mutation in 200 survivors of myocardial infarction and in 100 healthy contr...

The factor V Leiden mutation, a G-->A transition at position 1691 in exon 10 of the gene that codes for factor V, produces an Arg506Gln substitution and is the most common genetic risk factor for venous thrombosis. We have developed a rapid, sensitive, and specific method to detect the factor V Leiden mutation in genomic DNA from whole blood by PCR amplification and microparticle enzyme immunoa...

BACKGROUND Factor V Leiden has been reported in 2%-30% of patients with portal vein thrombosis. This wide variation makes it difficult to assess the importance of factor V Leiden as a predisposing factor. METHODS Factor V Leiden was determined by restriction fragment length polymorphism in 112 patients with portal vein thrombosis, 104 with deep vein thrombosis and 98 control subjects. RESUL...

BACKGROUND AND OBJECTIVES In this retrospective, single center, cohort study we assessed the risk of pregnancy-related venous thromboembolism (VTE) in women belonging to a large number of families identified because of a symptomatic proband with single identified factor V Leiden mutation. DESIGN AND METHODS Female family members who had experienced at least one full-term pregnancy were enroll...

1. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, De Ronde H, Van der Velden PA, Reitsma PH: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64, 1994 2. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in the 38-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin le...