Contributions
Abstract: EP1333
Type: E-Poster Presentation
Session title: Thrombosis and vascular biology - Biology & Translational Research
Background
Vitamin K plays a crucial role in hemostasis by activating both procoagulant (FII, VII, IX, X) and anticoagulant (proteins C, S, Z) factors. Vitamin K-epoxide reductase 1 (VKORC1) G-1639A gene polymorphism is known to affect an enzyme activity and bioavailability of vitamin K. To date, there is a little data on the role of VKORC1 G-1639A variation in venous thromboembolism (VTE) development, in particular, in patients with inherited thrombophilia.
Aims
To assess effect of the VKORC1 G-1639A gene polymorphism on the risk of VTE development in patients from North-Western Russia.
Methods
We included 600 VTE patients (294 men and 306 women, mean age 43.6±15.3 years) originated from the North-Western region of Russia in the study. The control group (CG) consisted of 200 healthy individuals of the same origin. Genotyping for the VKORC1 G-1639A, FII G20210A and FV G1691A variations was performed by PCR-RFLP. Odds ratios (OR) with 95% confidence intervals (CI) and p-values were determined by Fisher’s exact test to characterize intergroup differences in distributions of genotypes and their combinations. The study was approved by the local ethical committee.
Results
Allele and genotype frequencies for the VKORC1 G-1639A polymorphism were similar in both VTE patients and controls. At the same time, we observed significant differences for the VKORC1 genotypes distribution between the groups of VTE patients with or without classical markers of inherited thrombophilia. The frequency of the -1639AA genotype in patients with FV 1691A variant (FV Leiden) was 4-fold higher than in those having FII G20210A mutation (19.6% vs. 4.4%, respectively; OR=5.2; 95%CI: 1.2-23.6; p=0.021). In the group of patients without FII and FV gene mutations, the frequency of the VKORC1 -1639AA genotype was almost equal to that in CG (17.1% vs. 16.5%, respectively). When compared to CG, the VKORC1 -1639AA variant was significantly underrepresented in patients with the FII G20210A gene mutation (4.4% vs. 16.5%, respectively; OR=0.2; 95%CI: 0.1-1.0; p=0.035).
Conclusion
Genotype VKORC1 -1639AA could have protective effect on VTE development in patients with FII G20210A mutation from North-Western Russia. Further studies are needed to confirm this finding.
Keyword(s): Gene polymorphism, Inherited thrombophilia, Risk factor, Venous thromboembolism
Abstract: EP1333
Type: E-Poster Presentation
Session title: Thrombosis and vascular biology - Biology & Translational Research
Background
Vitamin K plays a crucial role in hemostasis by activating both procoagulant (FII, VII, IX, X) and anticoagulant (proteins C, S, Z) factors. Vitamin K-epoxide reductase 1 (VKORC1) G-1639A gene polymorphism is known to affect an enzyme activity and bioavailability of vitamin K. To date, there is a little data on the role of VKORC1 G-1639A variation in venous thromboembolism (VTE) development, in particular, in patients with inherited thrombophilia.
Aims
To assess effect of the VKORC1 G-1639A gene polymorphism on the risk of VTE development in patients from North-Western Russia.
Methods
We included 600 VTE patients (294 men and 306 women, mean age 43.6±15.3 years) originated from the North-Western region of Russia in the study. The control group (CG) consisted of 200 healthy individuals of the same origin. Genotyping for the VKORC1 G-1639A, FII G20210A and FV G1691A variations was performed by PCR-RFLP. Odds ratios (OR) with 95% confidence intervals (CI) and p-values were determined by Fisher’s exact test to characterize intergroup differences in distributions of genotypes and their combinations. The study was approved by the local ethical committee.
Results
Allele and genotype frequencies for the VKORC1 G-1639A polymorphism were similar in both VTE patients and controls. At the same time, we observed significant differences for the VKORC1 genotypes distribution between the groups of VTE patients with or without classical markers of inherited thrombophilia. The frequency of the -1639AA genotype in patients with FV 1691A variant (FV Leiden) was 4-fold higher than in those having FII G20210A mutation (19.6% vs. 4.4%, respectively; OR=5.2; 95%CI: 1.2-23.6; p=0.021). In the group of patients without FII and FV gene mutations, the frequency of the VKORC1 -1639AA genotype was almost equal to that in CG (17.1% vs. 16.5%, respectively). When compared to CG, the VKORC1 -1639AA variant was significantly underrepresented in patients with the FII G20210A gene mutation (4.4% vs. 16.5%, respectively; OR=0.2; 95%CI: 0.1-1.0; p=0.035).
Conclusion
Genotype VKORC1 -1639AA could have protective effect on VTE development in patients with FII G20210A mutation from North-Western Russia. Further studies are needed to confirm this finding.
Keyword(s): Gene polymorphism, Inherited thrombophilia, Risk factor, Venous thromboembolism