Abstract Number: PB1143
Meeting: ISTH 2021 Congress
Theme: Venous Thromboembolism » Genetic Risk Factors of Thrombosis
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. Intergroup differences in genotype frequencies were assessed by Fisher’s exact test. The study was approved by the local ethical committee.
Results: Distribution of the VKORC1 G-1639A gene variants was similar in both VTE patients and controls. Frequency of the VKORC1 -1639AA genotype in patients with the FV Leiden was 4-fold higher than in those having the 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 VTE 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).
Conclusions: We suggest that VKORC1 -1639AA genotype 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.
To cite this abstract in AMA style:
Kapustin S, Chechulova A, Svitina S, Sidorova J, Burakov V, Soroka V, Soldatenkov V, Papayan L. VKORC1 -1639AA Genotype Is a Possible Protective Factor for Venous Thromboembolism Development in Patients with FII G20210A Mutation from North-Western Russia [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/vkorc1-1639aa-genotype-is-a-possible-protective-factor-for-venous-thromboembolism-development-in-patients-with-fii-g20210a-mutation-from-north-western-russia/. Accessed June 25, 2022.« Back to ISTH 2021 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/vkorc1-1639aa-genotype-is-a-possible-protective-factor-for-venous-thromboembolism-development-in-patients-with-fii-g20210a-mutation-from-north-western-russia/