Haemostatic genetic risk factors in arterial thrombosis

Haemostasis plays an integral role in arterial thrombotic disease. However, establishing which of the factors are risk factors has proven surprisingly difficult. Because of its technical simplicity and digital nature, the stu dy of haemostatic polymorphisms as risk factors has grown in popularity. On ce established as a risk factor, a genetic polymorphism has the potential t o aid selective prophylaxis and therapy of disease. Numerous reports have n ow been published on polymorphisms of coagulation and fibrinolytic factors, of coagulation and fibrinolytic inhibitory proteins, and of platelet membr ane glycoprotein receptors. This article describes the polymorphisms and ev aluates the results of these studies using the premises of consistency of w ithin-report genotype/phenotype/disease relationships and consistency of ou tcome between studies. Many studies have been only of association between p olymorphisms and disease, a type of study that is prone to error. Furthermo re, the collective outcome of these studies has primarily been inconsistent . It is concluded that despite the early promise of polymorphisms as risk f actors, fresh approaches differing in scale and design are now required to clarify their possible importance.