Polymorphisms in coagulation factor genes and their impact on arterial and venous thrombosis

Arterial and venous thromboses, with their clinical manifestations such as stroke, myocardial infarction (MI), or pulmonary embolism, are the major causes of death in developed countries. Several studies in twins and siblings have shown that genetic factors contribute significantly to the development of these diseases. Since the advent of molecular genetics in medicine, it has been a focus of interest to elucidate the role of mutations in various candidate genes and their impact on hemostatic disorders such as arterial and venous thromboses. In this article, we review the current knowledge of the contribution of polymorphisms in coagulation factors to the development of thrombotic diseases. We show that in arterial thrombosis, results are controversial. Only for factor XIII 34Leu a protective effect on the development of myocardial infarction has been demonstrated in several studies. No other single polymorphism in a coagulation factor could be confirmed as a relevant risk factor, although there is evidence for a role of factor V Arg506Gln, factor VII Arg353Gln, and vWF Thr789Ala polymorphisms in patient subgroups. Further studies will be necessary to confirm the value of testing for genetic polymorphisms in arterial thrombosis. A large body of data is available on the role of factor V Arg506Gln and the prothrombin G20210A mutation in venous thrombosis. Some papers already recommend diagnosis and treatment strategies. We will discuss these recent publications on venous thrombosis in our review.