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Chechulova A.V.

Dzhanelidze St. Petersburg Research Institute for Emergency Care

Kapustin S.I.

Russian Research Institute of Hematology and Transfusion Medicine

Soroka V.V.

Dzhanelidze St. Petersburg Research Institute for Emergency Care

Soldatenkov V.E.

Russian Research Institute of Hematology and Transfusion Medicine

Kargin V.D.

Russian Research Institute of Hematology and Transfusion Medicine

Papayan L.P.

Russian Research Institute of Hematology and Transfusion Medicine

Malkova P.M.

Dzhanelidze St. Petersburg Research Institute for Emergency Care

Galchenko M.I.

HiQo Solutions LLC

Gene-Gene Interactions Between Some Plasma Hemostasis Factors in Patients with Early Venous Thromboembolism

Authors:

Chechulova A.V., Kapustin S.I., Soroka V.V., Soldatenkov V.E., Kargin V.D., Papayan L.P., Malkova P.M., Galchenko M.I.

More about the authors

Journal: Journal of Venous Disorders. 2021;15(1): 50‑56

DOI: 10.17116/flebo20211501150

Views: 1504

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GENE-GENE INTERACTIONS BETWEEN SOME PLASMA HEMOSTASIS FACTORS IN PATIENTS WITH EARLY VENOUS THROMBOEMBOLISM
GENE-GENE INTERACTIONS BETWEEN SOME PLASMA HEMOSTASIS FACTORS IN PATIENTS WITH EARLY VENOUS THROMBOEMBOLISM

To cite this article:

Chechulova AV, Kapustin SI, Soroka VV, et al. . Gene-Gene Interactions Between Some Plasma Hemostasis Factors in Patients with Early Venous Thromboembolism. Journal of Venous Disorders. 2021;15(1):50‑56. (In Russ.)
https://doi.org/10.17116/flebo20211501150

Подписка 2025-2 (Journal of Venous Disorders)
 
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Venous thromboembolism (VTE) is a multifactorial disease with complex pathogenesis and polygenic inheritance.

OBJECTIVE

To determine the most common combinations of genes encoding the main plasma hemostasis factors in young patients with VTE.

MATERIAL AND METHODS

We examined 243 young patients (up to 45 years old) with deep vein thrombosis and/or pulmonary embolism. There were 119 men (48.9%) and 124 women (51.1%) aged 37.4 years (range 18-45). The control group consisted of 171 healthy people. All patients were genotyped for polymorphism of seven genes: FI-B -455 G/A, FII 20210 G/A, FV 1691 G/A, FXII 46 C/T, FXIII Val34Leu, PAI-1 -675 4G/5G, TPA 311 bp Ins/Del. Genetic variants were identified by PCR-RFLP method.

RESULTS

Mutations FV 1691 G/A (OR=2.9; p=0.006) and FII 20210 G/A (OR=8.8; p=0.001) were independent risk factors of VTE. In addition, the following combinations of genotypes were significantly more common: «FXIII 34Val/Leu + FI-B -455GA» (OR=2.3; p=0.007), «FXIII 34Val/Leu + PAI-1 4G/4G» (OR=2.1; p=0.013), and «FXIII 34Val/Leu + FXII 46CT» (OR=2.2; p=0.01). FXIII 34Val/Leu variant was independently associated with the risk of VTE in young women (OR=2.3; p=0.002).

CONCLUSION

In addition to mutations in the genes of factors II and V, Val34Leu polymorphism of factor XIII has a significant effect on the risk of VTE in young people. The last aspect is especially true for combination with carriage of unfavorable variants of FI-B, FXII or/and PAI-1 genes.

Keywords:

venous thromboembolism
thrombophilia
risk factor
gene
polymorphism
gene-gene associations

Authors:

Chechulova A.V.

Dzhanelidze St. Petersburg Research Institute for Emergency Care

Kapustin S.I.

Russian Research Institute of Hematology and Transfusion Medicine

Soroka V.V.

Dzhanelidze St. Petersburg Research Institute for Emergency Care

Soldatenkov V.E.

Russian Research Institute of Hematology and Transfusion Medicine

Kargin V.D.

Russian Research Institute of Hematology and Transfusion Medicine

Papayan L.P.

Russian Research Institute of Hematology and Transfusion Medicine

Malkova P.M.

Dzhanelidze St. Petersburg Research Institute for Emergency Care

Galchenko M.I.

HiQo Solutions LLC

Received:

08.11.2020

Accepted:

11.12.2020

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