Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3'-untranslated region of the prothrombin gene.
The odds ratio for the FII 20210G/A mutation in 504 patients with venous thromboembolism compared to controls was 2.0 (95% CI 1.0-4.0) and, for factor V Leiden, 5.8 (95% CI 3.3-10.3). 3/504 patients were heterozygous for both mutations. None of the patients had combined natural anticoagulant deficiency and the FII 20210G/A mutation. We conclude that the FII 20210G/A mutation is present in 2.6% of the population and the relative risk of venous thromboembolism in carriers is 2.0.
Brown
K
K
Department of Haematology, Addenbrooke's NHS Trust, Cambridge.
Luddington
R
R
Williamson
D
D
Baker
P
P
Baglin
T
T
D005165:Factor V / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D013923:Thromboembolism / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin