Genetic markers: genes involved in thrombosis.

This article summarizes the genetic markers of human venous and arterial thrombotic disorders. For venous thromboembolism, a factor V mutation (Arg 506-->Gln) has the highest risk, followed by protein C, S and antithrombin III gene defects. By contrast, these genetic defects are not associated significantly with arterial atherothrombotic disorders. Instead, a glycoprotein IIIa polymorphism (Pro33 versus Leu 33) has been reported to be associated with myocardial infarction. Fibrinogen Bbeta chain, factor VII, and plasminogen activator inhibitor-1 gene polymorphisms have been reported to influence the plasma levels of these factors and may indirectly be risk factors for arterial thrombotic disorders. Further studies will uncover additional genetic markers for thrombosis.