Polymorphisms of coagulation factor genes--a review

Common genetic variants of coagulation factor genes associated with differences in concentration and/or function of coagulation factors have been studied in search of variability that could explain the individual susceptibility to thrombosis and atherothrombotic diseases. The more outstanding polymorphisms in genes of factors involved in coagulation and fibrinolysis described in the literature (such as fibrinogen, factor XIII, glycoprotein IIb/IIIa, von Willebrand factor, factors VII, VIII and IX, factor V, ATIII and protein C system factors, prothrombin, PAI-1 and fibrinolytic system) are reviewed in the context of factor's structure and function and also in its proposed relevance for thrombotic and atherothrombotic risk definition.