Abstract Number: VPB1313
Meeting: ISTH 2022 Congress
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 affects enzyme activity and bioavailability of vitamin K. Little is known about the role of the VKORC1 G-1639A variation in venous thromboembolism (VTE) development, in particular, in patients with inherited thrombophilia.
Aims: To study the role of the VKORC1 G-1639A gene polymorphism in 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. 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). VKORC1 -1639AA genotype frequency 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; p=0.021). Notably, among patients having FV Leiden variant, the VKORC1 -1639AA genotype frequency was much higher in the group with late-onset disease (after 45 years) compared to young VTE patients (31.6% vs. 11.9%; OR=3,4; p=0,02). Thus, in elderly VTE patients with FV Leiden, the VKORC1 -1639AA variant was almost 2-fold overrepresented when compared to CG (31.6% vs. 16.5%; OR=2,4; p=0,033).
Conclusion(s): We suggest that the VKORC1 -1639AA genotype could increase VTE risk in elderly patients with FV Leiden mutation.
To cite this abstract in AMA style:Kapustin S, Chechulova A, Drijun J, Sidorova Z, Burakov V, Soroka V, Soldatenkov V, Papayan L. VKORC1 -1639AA Genotype as a Possible Risk Factor for Venous Thromboembolism in Elderly Patients with FV Leiden Mutation [abstract]. https://abstracts.isth.org/abstract/vkorc1-1639aa-genotype-as-a-possible-risk-factor-for-venous-thromboembolism-in-elderly-patients-with-fv-leiden-mutation/. Accessed September 29, 2023.
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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/vkorc1-1639aa-genotype-as-a-possible-risk-factor-for-venous-thromboembolism-in-elderly-patients-with-fv-leiden-mutation/