Venous Thrombosis: Genetics

Pieter H Reitsma, Laboratory for Experimental Internal Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

Published online: January 2006

DOI: 10.1038/npg.els.0005932

The genetics of venous thrombosis provides a well worked out example of a multifactorial disease. Several genetic risk factors have been characterized in considerable detail, and evaluation of these risk factors is helpful in assessing individual risk profiles.

Keywords: venous thrombosis; antithrombin; heparin cofactor II; protein C; protein S; thrombomodulin; endothelial-cell protein C receptor; tissue factor pathway inhibitor; factor V; prothrombin; factor XIII; tissue factor

 Further Reading
    Bertina RM (2001) Genetic approach to thrombophilia. Thrombosis and Haemostasis 86: 92–103.
    Bertina RM, Koeleman BP, Koster T, et al. (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369: 64–67.
    book Cooper DN and Krawczak M (1997) Venous Thrombosis: From Gene to Clinical Medicine. Oxford, UK: BIOS Scientific Publishers.
    Dahlbäck B, Carlsson M and Svensson PJ (1993) Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proceedings of the National Academy of Sciences of the United States of America 90: 1004–1008.
    Franco RF and Reitsma PH (2001) Genetic risk factors of venous thrombosis. Human Genetics 109: 369–384.
    Lane DA, Mannucci PM, Bauer KA, et al. (1996) Inherited thrombophilia. 1 [review]. Thrombosis and Haemostasis 76(5): 651–662.
    Lane DA, Mannucci PM, Bauer KA, et al. (1996) Inherited thrombophilia. 2 [review]. Thrombosis and Haemostasis 76(6): 824–834.
    Poort SR, Rosendaal FR, Reitsma PH and Bertina RM (1996) A common genetic variation in the 3¢-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88(10): 3698–3703.

Related Sub-Topics:

Intracellular and Extracellular Signalling | Molecular Genetics of Common and Complex Disease | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease | Cell Signalling | Proteins: Structure, Function, Metabolism
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Article Title: Venous Thrombosis: Genetics
 
How to Cite close
Reitsma, Pieter H(Jan 2006) Venous Thrombosis: Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005932]