Clinical Physiology of Circulation

Chief Editor

Leo A. Bockeria, MD, PhD, DSc, Professor, Academician of Russian Academy of Sciences, President of Bakoulev National Medical Research Center for Cardiovascular Surgery


Genetic risk factors forthrombophilias

Authors: Bockeria L. A., Bockeria O. L., Samsonova N. N., Lyadov K. V., Lemaeva I. V.

Link: Clinical Physiology of Blood Circulaiton. 2008; (): -

Download
Full text:  

Abstract

Polymorphisms of thrombus formation candidate genes were studied in 60 patients admitted with leg vein thrombosis. The control group included 25 people of comparable age without any thrombotic events in history. According to the prospective study results, we observed the greatest number of hetero- homozygous mutations in genes of apolipoprotein C III (45%), inhibitor of plasminogen activator (70%), fibrinogen (43.3%), methylentetrahydropholatreductase (48.3%). Statistically significant connections between vein thrombosis and hetero- homozygous mutations in genes of apolipoprotein C III, fibrinogen and inhibitor of plasminogen activator were revealed. A strong connection between phlebothrombosis development and carriage of normal variant of subitems of thrombocyte receptors GP IIb/IIIa gene was observed.

References

1. Балуда В. П., Балуда М. В. и др. Претромботическое состояние. Тромбоз и его профилактика. - М.: Зеркало-М., 1999.
2. Баркаган З. С. Клинико-патогенетические варианты, номенклатура и основы диагностики гематогенных тромбофилий // Пробл. гематол. - 1996, № 3. - С. 5-15.
3. Баркаган З. С. Учение о тромбофилиях на современном этапе // Консулиум. - 2000. - № 6. - С. 61-65.
4. Barkagan Z. S., Tsyvkina L. P., Mamaev A. N., Tseimakh I. Ya. Prevalence of APC-resistance (APC-R) amoung the patients with early thrombosis in the sibirian region of Russia In: XVI Congress of the International Soc. on Thrombosis and Haemostasis. - Florence, 1997 (Abstr. 32).
5. Dahlblack B. Inherited resistance to activated protein C. A single point mutation in the gene for factor V as major risk factor venous thrombosis // Hypercoagulable States / Eds M. J. Seghatchian, M. M. Samama, S. P. Hecker. - CRC Press, 1996. - P. 365-373.
6. Girolami A., Simoni P., Scarano L., Carraro G. Prothrombin and the prothrombin 20210 G to A polymorphism: their relationship with hypercoagulability and thrombosis // Blood Reviews. - 1999. - Vol. 13. - P. 205-210.
7. Gubric N., Stegnar M., Peternel P. et al. A novel GIA and the 4G/5G polymorphism within the promoter of the plasminogen activator ingibitor-1 gene in patients wits deep vein thrombosis // Thromb. Res. - 1996. - Vol. 84. - P. 431-443.
8. Samama M. M. An epidemiologic study of risk factors for deep vein thrombosis in medical outpatients: the Sirius study // Arch. Intern. Med. - 2000. - Vol. 160. - P. 3415-3420.
9. Sartori M. T., Wiman B., Vettore S. et al. 4G/5G polymorphism of PAI-1 gene promoter and fibrinolytic capacity in patient with deep vein thrombosis // Thromb. Haemost. - 1998. - Vol. 80. - P. 956-960.
10. Stegnar M., Uhrin P. et al. A novel GIA and the 4G/5G polymorphism of PAI-1 gene: relationship to plasma PAI-1 level in venous thromboembolism // Thromb. Haemost. - 1998. - Vol. 84. - P. 431-443.
11. Topol E. J. (ed.) Textbook of cardiovascular medicine / 2nd ed. - Lippincot Williams & Wilkins, 2002. - 2210 р.
12. Vicente V., Gonzalez-Conejero R., Rivera J., Corral J. The prothrombin gene variant 20210A in venous and arterial thromboembolism // Haematologica. - 1999. - Vol. 84. - P. 356-362.
13. Voorberg J., Roelse J., Koopman R. et al. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V // Lancet. - 1994. - Vol. 343. - P. 1535-1536.

 If you found mistakes, select text and press Alt+A