Genetic polymorphisms coding hemostasis protein synthesis and venous thromboembolic complications in Moscow population

• Main Authors: Natal'ya Mikhaylovna Vorob'eva, Z B Khasanova, N V Konovalova, A Yu Postnov, Aleksandr Ivanovich Kirienko, Elizaveta Pavlovna Panchenko, N M Vorobieva, A I Kirienko, E P Panchenko
• Format: Article
• Language: Russian
• Published: "Consilium Medicum" Publishing house 2011-03-01
• Series: Терапевтический архив
• Subjects: genetic polymorphism; venous thromboembolic complications; prognostic factor
• Online Access: https://ter-arkhiv.ru/0040-3660/article/view/30831

Aim. To estimate incidence of carriage of genetic polymorphisms coding hemostasis protein synthesis in patients with venous thromboembolic complications (VTEC) and healthy subjects in Moscow population; to detect VTEC genetic prognostic factors among the polymorphisms. Material and methods. A total of 111 patients with the history of deep vein thrombosis and/or pulmonary artery thromboembolism were examined. The control groups consisted of 197 healthy volunteers. Eleven polymorphisms in 7 genes coding hemostasis protein synthesis were investigated: V Leiden G1691A factor, G20210A prothrombin, C677T methylentetrahydrofolatreductase, A1298C methylentetrahydrofolatreductase, type 1 plasminogen activator inhibitor, 4G/5G promoter region, XIII V34L coagulation factor, IIIa L33P thrombocytic glycoprotein, C282Y hemochromatosis, G854A beta-fibrinogen, G455A beta-fibrinogen, C249T beta-fibrinogen. Results. Polymorphisms of the genes coding hemostasis protein synthesis were detected in all the patients and controls. The carriage occurred with the same frequency, respectively. By one-factor analysis, VTEC was associated with carriage of three heterozygous genotypes: V Leiden factor (p < 0.001), prothrombin (p = 0.052) and hemochromatosis (p = 0.048). Multifactor regression analysis has shown that only carriage of heterozygous polymorphism of V Leiden factor gene is a genetic prognostic factor of VTEC in Moscow population (p = 0.001, RR = 7.00, 95% CI 2.2-21.7). Conclusion. Genetic polymorphisms coding hemostasis protein synthesis are not a rare finding in Moscow population and occur in all the examinees (both patients and healthy subjects) in different combinations. Only carriage of V Leiden factor heterozygous genotype is a genetic prognostic factor of VTEC in Moscow population and is associated with a 7-fold increase of VTEC risk.