Coagulation factor mutations and thrombosis;Mutations des protéines de la coagulation et thromboses

Medecine/Sciences

Volumn 22, Issue 11, 2006, Pages 985-989

  Aiach, Martine ^a   Alhenc Gelas, Martine ^a   Borgel, Delphine ^a   Emmerich, Joseph ^a   Gandrille, Sophie ^a   Picard, Véronique ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 5 LEIDEN; PROTEIN C; PROTEIN S; THROMBIN;

ANTITHROMBIN DEFICIENCY; CARDIOVASCULAR RISK; GENETIC POLYMORPHISM; HUMAN; MUTATION; PHENOTYPE; REVIEW; THROMBOPHILIA; VENOUS THROMBOEMBOLISM;

EID: 33751566993     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/20062211985     Document Type: Review

References (29)

1. De Lange M, Snieder H, Ariens RA, et al. The genetics of haemostasis: a twin study. Lancet 2001; 357: 101-5.
2. Ariens RA, de Lange M, Snieder H, et al. Activation markers of coagulation and fibrinolysis in twins: heritability of the prethrombotic state, lancet 2002; 359: 667-71.
3. Souto JC, Almasy L, Barrel] M, et al. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101: 1546-51.
4. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorr 1965; 13: 516-30.
5. nd (1997) update. For the plasma coagulation inhibitors subcommittee of the scientific and standardization committee of the International society on thrombosis and haemostasis. Thromb Haemost 1997; 77: 197-211.
6. Kuhle S, Lane DA, Jochmanns K, et al. Homozygous antithrombin deficiency type Il (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost 2001; 86: 1007-11.
7. Picard V, Dautzenberg MD, Villoutreix BO, et al. Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. Blood 2003; 102: 919-25.
8. Griffin JH, Evatt B, Zimmerman TS1 et at. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68: 1370-3.
9. Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the subcommittee on plasma coagulation inhibitors of the scientific and standardization committee of the ISTH. Thromb Haemost 1995; 73: 876-89.
10. Gandrille S, Aiach M. Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French Inserm network on molecular abnormalities responsible for protein C and protein 5 deficiencies. Blood 1995; 86: 2598-605.
11. Comp PC, Nixon RR, Cooper MR, Esmon CT. Familial protein S deficiency is associated with recurrent thrombosis J Clin Invest 1984; 74: 2082-8.
12. Gandrille S, Borgel D, Ireland H, et al. Protein S deficiency: a database of mutations. For the plasma coagulation inhibitors subcommittee of the scientific and standardization committee of the International society on thrombosis and haemostasis. Thromb Haemost 1997; 77: 1201-14.
13. Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344: 1222-31.
14. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-8.
15. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-703.
16. Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from factor V R56Q contributes to the activated protein C resistance phenotype. Blood 1997; 90: 1552-7.
17. Emmerich J, Rosendaal FR, Cattaneo M, et al. Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism-pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study group for pooled-analysis in venous thromboembolism. Thromb Haemost 2001; 86: 809-16.
18. Ridker PM, Hennekens CH, Lindpaintner K, et at. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995; 332: 912-7.
19. Martinelli I, Mannucci PM, De Stefano V, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood 1998; 92: 2353-8.
20. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 1504-8.
21. Bounameaux H. Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism. Lancet 2000; 356: 182-3.
22. Koeleman BP, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994; 84: 1031-5.
23. Gandrille S, Greengard JS, Alhenc-Gelas M, et al. Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French network on the behalf of Inserm. Blood 1995; 86: 219-24.
24. Van Boven HH, Vandenbroucke JP, Briet E, Rosendaal FR. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency. Blood 1999; 94: 2590-4.
25. Borgel D, Duchemin J, Alhenc-Gelas M, et al. Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type Ma deficiencies. The French network on molecular abnormalities responsible for protein C and protein S deficiencies. J Lab Clin Med 1996; 128: 218-27.
26. Alhenc-Gelas M, Reny JL, Aubry ML, et al. The FXIII Val 34 Leu mutation and the risk of venous thrombosis. Thromb Haemost 2000; 84: 1117-8.
27. Saposnik B, Reny JL, Gaussem P, et al. A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis. Blood 2004; 103: 1311-8.
28. Bloemenkamp KW, Rosendaal FR, Heimerhorst FM, Vandenbroucke JP. Higher risk of venous thrombosis during early use of oral contraceptives in women with inherited clotting defects. Arch Intern Med 2000; 160: 49-52.
29. Schreijer AJM, Cannegieter SC, Meijers JCM, et al. Activation of coagulation system during air travel: a crossover study. Lancet 2006; 367: 832-8.