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VKORC1 -1639AA Genotype Is a Possible Protective Factor for Venous Thromboembolism Development in Patients with FII G20210A Mutation from North-Western Russia

S. Kapustin1, A. Chechulova2, S. Svitina1, J. Sidorova1, V. Burakov1, V. Soroka2, V. Soldatenkov1, L. Papayan1

1Russian Research Institute of Hematology and Transfusiology, Saint Petersburg, Russian Federation, 2Dzhanelidze Research Institute of Emergency Medicine, Saint Petersburg, Russian Federation

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.

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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/

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