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.