Mutations des protéines de la coagulation et thromboses

Martine Aiach; Martine Alhenc-Gelas; Delphine Borgel; Joseph Emmerich; Sophie Gandrille; Véronique Picard

doi:10.1051/medsci/20062211985

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Volume 22 / No 11 (Novembre 2006)

Med Sci (Paris), 22 11 (2006) 985-989

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Issue		Med Sci (Paris) Volume 22, Number 11, Novembre 2006


Page(s)		985 - 989
Section		M/S revues
DOI		https://doi.org/10.1051/medsci/20062211985
Published online		15 November 2006

De Lange M, Snieder H, Ariens RA, et al. The genetics of haemostasis: a twin study. Lancet 2001; 357 : 101–5. [Google Scholar]
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. [Google Scholar]
Souto JC, Almasy L, Borrell M, et al. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101 : 1546–51. [Google Scholar]
Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorr 1965; 13 : 516–30. [Google Scholar]
Lane DA, Bayston T, Olds RJ, et al. Antithrombin mutation database : 2^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. [Google Scholar]
Kuhle S, Lane DA, Jochmanns K, et al. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost 2001; 86 : 1007–11. [Google Scholar]
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. [Google Scholar]
Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68 : 1370–3. [Google Scholar]
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. [Google Scholar]
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 S deficiencies. Blood 1995; 86 : 2598–605. [Google Scholar]
Comp PC, Nixon RR, Cooper MR, Esmon CT. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984; 74 : 2082–8. [Google Scholar]
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. [Google Scholar]
Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344 : 1222–31. [Google Scholar]
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. [Google Scholar]
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. [Google Scholar]
Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90 : 1552–7. [Google Scholar]
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. [Google Scholar]
Ridker PM, Hennekens CH, Lindpaintner K, et al. 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. [Google Scholar]
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. [Google Scholar]
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. [Google Scholar]
Bounameaux H. Factor V Leiden paradox : risk of deep-vein thrombosis but not of pulmonary embolism. Lancet 2000; 356 : 182–3. [Google Scholar]
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. [Google Scholar]
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. [Google Scholar]
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. [Google Scholar]
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 IIa deficiencies. The French network on molecular abnormalities responsible for protein C and protein S deficiencies. J Lab Clin Med 1996; 128 : 218–27. [Google Scholar]
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. [Google Scholar]
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. [Google Scholar]
Bloemenkamp KW, Rosendaal FR, Helmerhorst 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. [Google Scholar]
Schreijer AJM, Cannegieter SC, Meijers JCM, et al. Activation of coagulation system during air travel : a crossover study. Lancet 2006; 367 : 832–8. [Google Scholar]

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[1] De Lange M, Snieder H, Ariens RA, et al. The genetics of haemostasis: a twin study. Lancet 2001; 357 : 101–5. [Google Scholar]

[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. [Google Scholar]

[3] Souto JC, Almasy L, Borrell M, et al. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101 : 1546–51. [Google Scholar]

[4] Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorr 1965; 13 : 516–30. [Google Scholar]

[5] Lane DA, Bayston T, Olds RJ, et al. Antithrombin mutation database : 2^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. [Google Scholar]

[6] Kuhle S, Lane DA, Jochmanns K, et al. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost 2001; 86 : 1007–11. [Google Scholar]

[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. [Google Scholar]

[8] Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68 : 1370–3. [Google Scholar]

[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. [Google Scholar]

[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 S deficiencies. Blood 1995; 86 : 2598–605. [Google Scholar]

[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. [Google Scholar]

[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. [Google Scholar]

[13] Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344 : 1222–31. [Google Scholar]

[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. [Google Scholar]

[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. [Google Scholar]

[16] Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90 : 1552–7. [Google Scholar]

[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. [Google Scholar]

[18] Ridker PM, Hennekens CH, Lindpaintner K, et al. 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. [Google Scholar]

[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. [Google Scholar]

[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. [Google Scholar]

[21] Bounameaux H. Factor V Leiden paradox : risk of deep-vein thrombosis but not of pulmonary embolism. Lancet 2000; 356 : 182–3. [Google Scholar]

[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. [Google Scholar]

[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. [Google Scholar]

[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. [Google Scholar]

[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 IIa deficiencies. The French network on molecular abnormalities responsible for protein C and protein S deficiencies. J Lab Clin Med 1996; 128 : 218–27. [Google Scholar]

[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. [Google Scholar]

[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. [Google Scholar]

[28] Bloemenkamp KW, Rosendaal FR, Helmerhorst 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. [Google Scholar]

[29] Schreijer AJM, Cannegieter SC, Meijers JCM, et al. Activation of coagulation system during air travel : a crossover study. Lancet 2006; 367 : 832–8. [Google Scholar]