Genetic polymorphisms associated with venous and arterial thrombosis: an overview.
OBJECTIVE
To provide an overview of genetic polymorphisms associated with thrombotic cardiovascular disease.


METHODS
A literature search using the National Library of Medicine database.


METHODS
The literature on genetic polymorphisms associated with venous and arterial thrombosis was reviewed.


METHODS
Based on the literature review, the clinical significance of polymorphisms in various coagulation proteins was assessed and a summary was developed.


CONCLUSIONS
Thrombosis is a multifactorial disorder, with both congenital and acquired risk factors. It is now clear that there are many genetic abnormalities that impart an increased risk for thrombophilia, and the presence of more than 1 abnormality results in a further increased risk of thrombosis. In hemostasis, there is a balance between procoagulant factors and natural anticoagulant proteins. The first genetic thrombotic disorders described were deficiencies of the natural anticoagulants, such as antithrombin, protein C, and protein S, but these abnormalities are rare and are caused by many different mutations. More recently, single polymorphisms that are relatively common in the general population have been described in procoagulant factors, such as factor V and prothrombin, which impart an increased risk for venous thrombosis. As more scrutiny is placed on the hemostatic system, further polymorphisms have come to light. The current challenge is to elucidate the relationship between these new polymorphisms and either venous or arterial thrombotic cardiovascular disease.
Kottke-Marchant
Kandice
K
Department of Clinical Pathology, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA. marchak@ccf.org
D001157:Arterial Occlusive Diseases / Q000235:genetics* / Q000473:pathology; D001777:Blood Coagulation / Q000502:physiology*; D001779:Blood Coagulation Factors / Q000235:genetics; D005165:Factor V / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic; D011486:Protein C / Q000235:genetics; D013923:Thromboembolism / Q000235:genetics* / Q000473:pathology; D020246:Venous Thrombosis / Q000235:genetics* / Q000473:pathology
D001779:Blood Coagulation Factors; D011486:Protein C; D005165:Factor V