Factor XII gene (F12) −4C/C polymorphism in combination with low protein S activity is associated with deep vein thrombosis

• References

• 1 Renne T, Pozgajova M, Gruner S. et al. Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med 2005; 202: 271-81.
• 2 Kleinschnitz C, Stoll G, Bendszus M. et al. Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis. J Exp Med 2006; 203: 513-8.
• 3 Kanaji T, Okamura T, Osaki K. et al. A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood 1998; 91: 2010-4.
• 4 Bertina RM, Poort SR, Vos HL. et al. The 46C-->T polymorphism in the factor XII gene (F12) and the risk of venous thrombosis. J Thromb Haemost 2005; 03: 597-9.
• 5 Kinoshita S, Iida H, Inoue S. et al. Protein S and proteinC gene mutations in Japanese deep vein thrombosis patients. Clin Biochem 2005; 38: 908-15.
• 6 Grunbacher G, Marx-Neuhold E, Pilger E. et al. The functional −4C>T polymorphism of the coagulation factor XII gene is not associated with deep venous thrombosis. J Thromb Haemost 2005; 03: 2815-7.
• 7 Tirado I, Soria JM, Mateo J. et al. Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis. Thromb Haemost 2004; 91: 899-904.
• 8 Kimura R, Honda S, Kawasaki T. et al. Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. Blood 2006; 107: 1737-8.