Venous Thrombosis: Genetics


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.

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.

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How to Cite close
Reitsma, Pieter H(Jan 2006) Venous Thrombosis: Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005932]