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Chechulova A.V.
Dzhanelidze Research Institute of Emergency Medicine, St. Petersburg, Russia
Kapustin S.I.
Russian Research Institute of Hematology and Blood Transfusion of FMBA of Russia, St. Petersburg, Russia
Soroka V.V.
I.I. Dzhanelidze St. Petersburg Research Institute of Emergency Care, St. Petersburg, Russia
Soldatenkov V.E.
Russian Research Institute of Hematology and Transfusiology, St. Petersburg, Russia
Kargin V.D.
Russian Research Institute of Hematology and Transfusiology, St. Petersburg, Russia
Papayan L.P.
Coagulation laboratory, Russian Scientific Research Institute of Hematology and Transfusiology, Russia
Tomchemko A.I.
Dzhanelidze Research Institute of Emergency Medicine, St. Petersburg, Russia
Journal: Journal of Venous Disorders. 2020;14(1): 6–9
Genetic Markers of Hereditary Thrombophilia and the Clinical Course for Venous Thromboembolism in Young Patients from the North-West of Russian Federation
Authors:
Chechulova A.V., Kapustin S.I., Soroka V.V., Soldatenkov V.E., Kargin V.D., Papayan L.P., Tomchemko A.I.
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Chechulova AV, Kapustin SI, Soroka VV, Soldatenkov VE, Kargin VD, Papayan LP, Tomchemko AI. Genetic Markers of Hereditary Thrombophilia and the Clinical Course for Venous Thromboembolism in Young Patients from the North-West of Russian Federation. Journal of Venous Disorders.
2020;14(1):6‑9.
(In Russ., In Engl.).
https://doi.org/10.17116/flebo2020140116
Early onset of venous thromboembolism (VTE) is mostly related to hereditary thrombophilic factors. However, their role in the triggering of VTE evet remains debatable. Objective. To determine the prevalence of allelic variants of some genes associated with plasma hemostasis activity in young patients with various clinical manifestations of VTE living in the North-West region of Russia. Material and methods. We examined 243 young patients up to the 45 years old (119 men and 124 women, mean age — 37.4 years) with deep venous thrombosis (DVT) and/or pulmonary embolism (PE). The patients were genotyped by PCR method for DNA polymorphism of nine genes: FI (α- and β- subunits), FII, FV, FXII, FXIII, PAI-1, TPA, and EPCR. The distribution of genotypes was compared in two clinical groups of VTE (isolated DVT and DVT+PE/PE only). Results. We found significant difference in the frequency of normal variant of TPA Del/Del, which was more often revealed in the group of isolated DVT (OR=1.9; 95% CI: 1.1—3.6; p=0.026). But it turned out to be insignificant after the implementation of Bonferroni correction for multiple testing. Heterozygous variant of FII 20210 G/A (OR=1.7; 95% CI: 0.7—3.9; p=0.242), homozygous variant of FXIII 34Leu/Leu (OR=1.8; 95% CI: 0.7—4.5; p=0.195) were more common in the group with pulmonary embolism than in the group with DVT only, but the differences were non-significant. On the contrary, heterozygous genotypes of FV 1691 G/A (OR=0.5; 95% CI: 0.2—1.1; p=0.068), FXIII 34 Val/Leu (OR=0.6; 95% CI: 0.4—1.1; p=0.079) and homozygous variant of EPCR Gly/Gly (OR=0.3; 95% CI: 0.03—2.9; p=0.3) were more frequently detected in patients with isolated DVT, but the differences were also non-significant. Conclusions. Homozygous variant of TPA Del/Del may be associated with an increased risk of VTE.
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Authors:
Chechulova A.V.
Dzhanelidze Research Institute of Emergency Medicine, St. Petersburg, Russia
Kapustin S.I.
Russian Research Institute of Hematology and Blood Transfusion of FMBA of Russia, St. Petersburg, Russia
Soroka V.V.
I.I. Dzhanelidze St. Petersburg Research Institute of Emergency Care, St. Petersburg, Russia
Soldatenkov V.E.
Russian Research Institute of Hematology and Transfusiology, St. Petersburg, Russia
Kargin V.D.
Russian Research Institute of Hematology and Transfusiology, St. Petersburg, Russia
Papayan L.P.
Coagulation laboratory, Russian Scientific Research Institute of Hematology and Transfusiology, Russia
Tomchemko A.I.
Dzhanelidze Research Institute of Emergency Medicine, St. Petersburg, Russia
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