The factor XIII Val34Leu polymorphism: Is it protective against idiopathic venous thromboembolism?

Blood Coagulation and Fibrinolysis

Volumn 17, Issue 7, 2006, Pages 533-538

  Wells, Philip S ^a,b   Anderson, Josdalyne L ^a   Rodger, Marc A ^a   Carson, Nancy ^a   Grimwood, Rebecca L ^a   Doucette, Steve P ^a  

^a UNIVERSITY OF OTTAWA   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Clinical studies; Deep vein thrombosis; Epidemiological studies; Factor XIII; Pulmonary embolism; Thrombophilia; Transglutaminases

Indexed keywords

BLOOD CLOTTING FACTOR 13; LEUCINE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; VALINE;

ADULT; AGED; ARTICLE; CANADA; CASE CONTROL STUDY; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; FEMALE; FRIEND; GENE; GENOTYPE; HUMAN; IDIOPATHIC DISEASE; LUNG EMBOLISM; MAJOR CLINICAL STUDY; MALE; POPULATION GENETICS; PRIORITY JOURNAL; PROSPECTIVE STUDY; THROMBOPHILIA; VENOUS THROMBOEMBOLISM;

AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FACTOR XIII; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LEUCINE; MALE; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, GENETIC; RISK ASSESSMENT; THROMBOEMBOLISM; VALINE; VENOUS THROMBOSIS;

EID: 33748947342     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mbc.0000245295.79891.86     Document Type: Article

References (36)

1. Ariëns RA, Lai TS, Weisel JW, Greenberg CS, Grant PJ. Role of factor XIII in fibrin clot formation and effects of genetic polymorphisms. Blood 2002; 100:743-754.
2. Mikkola H, Syrjala M, Rasi V, Vahtera E, Hamalainen E, Peltonen L, et al. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84:517-525.
3. Anwar R, Stewart AD, Miloszewski KJ, Losowsky MS, Markham AF. Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. Br J Haematol 1995; 91:728-735.
4. Balogh I, Szôke G, Karpati L, Wartiovaara U, Katona E, Komaromi I, et al. Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia. Blood 2000; 96:2479-2486.
5. Sadasivan C, Yee VC. Interaction of the factor XIII activation peptide with alpha-thrombin. Crystal structure of its enzyme-substrate analog complex. J Biol Chem 2000; 275:36942-36948.
6. Kohler HP, Stickland MH, Ossei-Gerning N, Carter A, Mikkola H, Grant PJ. Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemost 1998; 79:8-13.
7. McCormack LJ, Kain K, Catto AJ, Kohler HP, Stickland MH, Grant PJ. Prevalence of FXIII V34L in populations with different cardiovascular risk. Thromb Haemost 1998; 80:523-524.
8. Attié-Castro FA, Zago MA, Lavinha J, Elion J, Rodriguez-Delfin L, Guerreiro JF, et al. Ethnic heterogeneity of the factor XIII Val34Leu polymorphism. Thromb Haemost 2000; 84:601-603.
9. Ariëns RA, Philippou H, Nagaswami C, Weisel JW, Lane DA, Grant PJ. The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. Blood 2000; 96:988-995.
10. Trumbo TA, Maurer MC. Examining thrombin hydrolysis of the factor XIII activation peptide segment leads to a proposal for explaining the cardioprotective effects observed with the factor XIII V34L mutation. J Biol Chem 2000; 275:20627-20631.
11. Wartiovaara U, Mikkola H, Szoke G, Haramura G, Karpati L, Balogh I, et al. Effect of Val34Leu polymorphism on the activation of the coagulation factor XIII-A. Thromb Haemost 2000; 84:595-600.
12. Kangsadalampai S, Board PG. The Val34Leu polymorphism in the A subunit of coagulation factor XIII contributes to the large normal range in activity and demonstrates that the activation peptide plays a role in catalytic activity. Blood 1998; 92:2766-2770.
13. Kohler HP, Whitaker P, Grant PJ. A common coding polymorphism in the FXIII A-subunit gene (FXIIIVal34Leu) affects cross-linking activity. Thromb Haemost 1998; 80:704.
14. Ariëns RA, Philippou H, Nagaswami C, Weisel JW, Lane DA, Grant PJ. The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. Blood 2000; 96:988-995.
15. Catto AJ, Kohler HP, Coore J, Mansfield MW, Stickland MH, Grant PJ. Association of a common polymorphism in the Factor XIII gene with venous thrombosis. Blood 1999; 93:906-908.
16. van Hylckama Vlieg A, Komanasin N, Ariëns RA, Poort SR, Grant PJ, Bertina RM, et al. Factor XIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis. Br J Haematol 2002; 119:169-175.
17. Zidane M, de Visser MCH, ten Wolde M, Vos HL, de Monye W, Bertina RM, et al. Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively proven pulmonary embolism. Thromb Haemost 2003; 90:439-445.
18. Franco RF, Reitsma PH, Lourenco D, Maffei FH, Morelli V, Tavella MH, et al. Factor XIII Val34Leu is a genetic factor involved in the aetiology of venous thrombosis. Thromb Haemost 1999; 81:676-679.
19. Alhenc-Gelas M, Reny JL, Aubry M-L, Aiach M, Emmerich J. The FXIII Val 34 Leu mutation and the risk of venous thrombosis. Thromb Haemost 2000; 84:1117-1118.
20. Renner W, Koppel H, Hoffman C, Schallmoser K, Stanger O, Toplak H, et al. Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria. Thromb Res 2000; 99:35-39.
21. Corral J, Gonzalez-Conejero R, Iniesta JA, Rivera J, Martinez C, Vicente V. The FXIII Val34Leu polymorphism in venous and arterial thromboembolism. Haematologica 2000; 85:293-297.
22. Margaglione M, Bossone A, Brancaccio V, Ciampa A, Di Minno G. Factor XIII Val34Leu polymorphism and risk of deep vein thrombosis. Thromb Haemost 2000; 84:1118-1119.
23. Ryan DH, Crowther MA, Ginsberg JS, Francis CW. Relation of factor V Leiden genotype to risk for acute deep venous thrombosis after joint replacement surgery. Ann Intern Med 1998; 128:270-276.
24. Wells PS, Rodger MA, Forgie MA, Langlois NJ, Armstrong L, Carson N, et al. The ACE D/D genotype is protective against the development of idiopathic deep vein thrombosis and pulmonary embolism. Thromb Haemost 2003; 90:829-834.
25. Koster T, Blann AD, Briet E, Vandenbroucke JP, Rosendaal FR. Role of clotting factor VIII and effect of von Willebrand factor on occurrence of DVT. Lancet 1995; 345:152-155.
26. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet 1999; 353:1167-1173.
27. Kamphuisen PW, Eikenboom JCJ, Vos HL, Pablo R, Sturk A, Bertina RM, et al. Increased levels of factor VIII and fibrinogen in patients with venous thrombosis are not caused by acute phase reactions. Thromb Haemost 1999; 81:680-683.
28. Bertina RM, Rosendaal FR. Venous thrombosis - the interaction of genes and the environment. N Engl J Med 1998; 338:1840-1841.
29. Frezzato M, Tosetto A, Rodeghiero F. Validated questionnaire for the identification of previous personal or familial venous thromboembolism. Am J Epidemiol 1996; 143:1257-1265.
30. Donnelly JG, Rock GA. Genetic determinants of heritable venous thrombosis: genotyping methods for factor V (Leiden) A1691G, methylenetetrahydrofolate reductase C677T, prothrombin G20210A mutation, and algorithms for venous thrombosis investigations. Clin Biochem 1999; 32:223-228.
31. Dowling NF, Hooper WC, Dilley A, Lally C, Whitsett C, Ellingsen D, et al. Relationship of the Val34Leu polymorphism in the factor XIII gene with venous thromboembolism in American whites and blacks: the GATE study [abstract]. J Thromb Haemost 2003; Suppl 1:P0346.
32. Kearon C, Gent M, Hirsh J, Weitz J, Kovacs MJ, Anderson DR, et al. Extended anticoagulation compared to placebo after three months of therapy for a first episode of idiopathic venous thromboembolism. N Engl J Med 1999; 340:901-907.
33. Zoller B, Berntsdotter A, Garcia de Frutos P, Dahlback B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85:3518-3523.
34. van Boven HH, Vandenbroucke JP, Westendorp RGJ, Rosendaal FR. Mortality and causes of death in inherited antithrombin deficiency. Thromb Haemost 1997; 77:452-455.
35. Makris M, Preston FE, Beauchamp NJ, Cooper PC, Daly ME, Hampton KK, et al. Co-Inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thromb Haemost 1997; 78:1426-1429.
36. Franco RF, Middeldorp S, Meinardi JR, van Pampus EC, Reitsma PH. Factor XIII Val34Leu and the risk of venous thromboembolism in factor V Leiden carriers. Br J Haematol 2000; 111:118-121.