Genetic Polymorphisms Associated With Venous and Arterial Thrombosis

Abstract Objective.—To provide an overview of genetic polymorphisms associated with thrombotic cardiovascular disease. Data Sources.—A literature search using the National Library of Medicine database. Study Selection.—The literature on genetic polymorphisms associated with venous and arterial thrombosis was reviewed. Data Extraction.—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, ...