Influence of three potential genetic risk factors for thrombosis in 43 families carrying the factor V Arg 506 to Gln mutation

British Journal of Haematology

Volumn 106, Issue 4, 1999, Pages 889-897

  Le Cam Duchez, Veronique ^a,b   Gandrille, Sophie ^a   Trëgouët, David ^a   Alhenc Gelas, Martine ^a   Emmerich, Joseph ^a   Fiessinger, Jean Noël ^a   Borg, Jeanne Yvonne ^b   Aiach, Martine ^a,c  

^a HÔPITAL BROUSSAIS   (France)

^b HÔPITAL CHARLES NICOLLE   (France)

^c INSERM   (France)

Author keywords

Coagulation; Factor V; Protein C; Thrombophilia; Thrombosis

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 5; GLUTAMINE; PROTEIN C; PROTEIN S;

ARTICLE; DNA POLYMORPHISM; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC RISK; HETEROZYGOTE; HUMAN; MALE; PATHOGENESIS; PRIORITY JOURNAL; THROMBOPHILIA; THROMBOSIS;

ADOLESCENT; ADULT; AGED; ALLELES; FACTOR V; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; RISK FACTORS; THROMBOSIS;

EID: 0032827494     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01661.x     Document Type: Article

References (50)

1. Aiach, M., Nicaud, V., Alhenc-Gelas, M., Gandrille, S., Arnaud, E., Amiral, J., Guize, L., Fiessinger, J.N. & Emmerich, J. (1999) Complex association of protein C gene promoter polymorphism with circulating protein C levels and the thrombotic risk. Arteriosclerosis, Thrombosis and Vascular Biology, 19, 1573-1576.
2. Alhenc-Gelas, M., Nicaud, V., Gandrille, S., van Dreden, P., Amiral, J., Aubry, M.L., Fiessinger, J.N.. Emmerich, J. & Aiach, M. (1999) The factor V gene A4070G mutation may be a new risk factor for thrombosis. Thrombosis and Haemostasis, 81, 193-197.
3. Bell, G., Karam, J. & Rutter, W. (1981) Polymorphic DNA region adjacent to the 5' end of the human insulin gene. Proceedings of the National Academy of Sciences of the United States of America, 78, 5759-5763.
4. Bernardi, F., Faioni, E.M., Castoldi, E., Lunghi, B., Castaman, G., Sacchi, E. & Mannucci, P.M. (1997) A factor V genetic component differing from factor V R 506Q contributes to the activated protein C resistance phenotype. Blood, 90, 1552-1557.
5. Bertina, R.M., Koeleman, B.P.C., Koster, T., Rosendaal, F.R., Dirven, RJ., de Ronde, H., van der Velden, P.A. & Reitsma, P.H. (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature, 369, 64-67.
6. Borgel, D., Duchemin, J., Alhenc-Gelas, M., Matheron, C., Aiach, M. & Gandrille, S. (1996a) Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies, Journal of laboratory and Clinical Medicine, 128, 218-227.
7. Borgel, D., Jude, B., Aiach, M. & Gandrille, S. (1996b) First case of sporadic protein S deficiency due to a novel candidate mutation, Ala 484 Pro, in the protein S active gene (PROS 1). Thrombosis und Haemostasis, 75, 883-886.
8. 506). Arteriosclerosis, Thrombosis and Vascular Biology, 17, 1662-1666.
9. Dahlbäck, B., Curlsson, M. & Svensson, P. (1993) 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. Proceedings of the National Academy of Sciences of the United States of America, 90, 1004-1008.
10. Dahlbäck, B. (1994) Physiological anticoagulation: resistance to activated protein C and venous thromboembolism. Journal of Clinical Investigation, 94, 923-927.
11. Esmon, C.T. & Schwarz, H.P. (1995) An update on clinical and basic aspects of the protein C anticoagulant pathway. Trends in Cardiovascular Medicine, 5, 141-148.
12. Falcon, C.R., Cattaneo, M., Panzeri, D., Martinelli, I. & Mannucci, P.M. (1994) High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. Arteriosclerosis and Thrombosis, 14, 1080-1083.
13. Fermo, I., Vigano D'Angelo, S., Paroni, R., Mazzola, G., Calori, G. & D'Angelo, A. (1995) Prevalence of moderate hyperhomocysteinemia in patients with early-onset venous and arterial occlusive disease. Annals of Internal Medicine, 123, 747-753.
14. Foster, D.C., Yoshitake, S. & Davie, E.W. (1985) The nucleotide sequence of the gene for human protein C. Proceedings of the National Academy of Sciences of the United States of America, 82, 4673-4677.
15. Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J.H., den Heijer, M., Kluijtmans, L.A.J., van den Heuvel, L.P. & Rozen, R. (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics, 10, 111-113.
16. Gandrille, S., Greengard, J., Alhenc-Gelas, M., Juhan-Vague, I., Abgrall, J.F. Jude, B., Griffin, J.H. & Aiach, M., and the French network on the behalf of INSERM 'Molecular abnormalities responsible for protein C and protein S deficiencies' (1995) Incidence of activated protein C resistance due to the Arg 506 Gln mutation in factor V in 113 unrelated symptomatic protein C deficient patients, Blood, 86, 219-224.
17. Goyette, P., Sumner, J.S., Milos, R., Duncan, A.M.V., Rosenblatt, D.S., Matthews, R.G. & Rozen, R. (1994) Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nature Genetics, 7, 195-200.
18. Heijer, M.D., Koster, T., Blom, ILJ., Bos, G.M.J., Brief, E., Reitsma, P.H., Vandenbroucke, J.P. & Rosendaal, F.R. (1996) Hyperhomocysteinemia as a risk factor fur deep-vein thrombosis. New England Journal of Medicine, 334, 759-762.
19. Jacques, P.F., Boston, A.G., Williams, R.R., Ellison, R.C., Eckfeldt, J.H., Rosenberg, I.H., Selhub, J. & Rozen, R. (1996) Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation, 93, 7-9.
20. Jenny, R.J., Pittman, D.D., Toole, J.J., Kriz, R.W., Aldape, R.A., Hewick, R.M., Kaufman, R.J. & Mann, K.G. (1987) Complete cDNA and derived amino acid sequence of human factor V. Proceedings of the National Academy of Sciences of the United States of America, 84, 4846-4850.
21. Koeleman, B.P.C., Reitsma, P.H., Allaart, C.F. & Bertina, R.M. (1994) Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood, 84, 1031-1035.
22. Koeleman, B.P.C., Van Rumpt, D., Hamulyak, K., Reitsma, P.H. & Bertina, K.M. (1995) Factor V Leiden: an additional risk factor far thrombosis in protein S deficient families? Thrombosis and Haemostasis, 74, 580-583.
23. Koster, T., Rosendaal, F.R., de Ronde, H., Briët, E., Vandenbroucke, J.P. & Bertina, R.M. (1993) Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet, 342, 1503-1507.
24. Lentz, S.R. & Sadler, J.E. (1991) Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine. Journal of Clinical Investigation, 88, 1906-1914.
25. Lentz, S.R., Sobey, C.G., Piegors, D.J., Bhopatkar, M.Y., Faraci, F.M., Malinow, M.R. & Heistad, D.D. (1996) Vascular dysfunction in monkeys with diet-induced hyperhomocysteinemia. Journal of Clinical Investigation, 98, 24-29.
26. Liang, K.Y. & Zeger, S.L. (1986) Longitudinal data analysis using generalized linear models, Biometrika, 73, 13-22.
27. Lunghi, B., Lacoviello, L., Gemmati, D., Dilasio, M.G., Castoldi, E., Pinotti, M., Castaman, G., Redaelli, R., Mariani, G., Marchetti, G. & Bernardi, F. (1996) Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. Thrombosis and Haemostasis, 75, 45-48.
28. Mandel, H., Brenner, B. & Berant, M. (1996) Coexistence of hereditary homocystinuria and factor V Leiden: effect on thrombosis. New England Journal of Medicine, 334, 763-768.
29. Miletich, J.P., Prescott, S.M., White, R., Majerus, P.W. & Bovill, E.G. (1993) Inherited predisposition to thrombosis. Cell, 72, 477-480.
30. Olson, J.M. (1994) Robust estimation of gene frequency and association parameters. Biometrics, 50, 665-674.
31. Poort, R.S., Rosendaal, F.R., Reitsma, P.H. & Bertina, R.M. (1996) A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels und an increase in venous thrombosis. Blood, 88, 3698-3703.
32. Ridker, P.M., Hennekens, C.H., Lindpaintner, K., Stampfer, M.J., Eisenberg, P.R. & Miletich, J.P. (1995) Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. New England Journal of Medicine, 332, 912-917.
33. Ridker, P.M., Hennekens, C.H., Selhub, J., Miletich, J.P., Malinow, M.R. & Stampfer, M.J. (1997) Interrelation of hyperhomocyst(e)inemia, fector V leiden, and risk of future venous thromboembolism. Circulation, 95, 1777-1782.
34. Rosendaal, F.R., Koster, T., Vandenbroucke, J.P. & Reitsma, P.H. (1995) High risk of thrombosis In patients homozygous for factor V Leiden (activated protein C resistance). Blood, 85, 1504-1508.
35. Rosendaal, F.R., Doggen, C.J.M., Zivelin, A., Arruda, V.R., Aiach, M., Siscovick, D.S., Hillarp, A., Watzke, H.H., Bernardi, F., Cumming, A.M., Preston, F.E. & Reitsma, P.H. (1998) Geographic distribution of the 20210 G to A prothrombin variant. Thrombosis and Haemostasis, 79, 706-708.
36. Salden, A., Keeney, S., Hay, C.R.M. & Cumming, A.M. (1997) The C677T MTHFR variant and the risk of venous thrombosis. British Journal of Haematology, 99, 472.
37. Schmitz, C., Lindpaintner, K., Verhoef, P., Gaziano, J.M. & Buring, J. (1996) Genetic polymorphism of methylenetetrahydrofolate reductase and myocardial infarction: a case-control study. Circulation, 94, 1812-1814.
38. Scopes, D., Berg, L.P., Krawczak, M., Kakkar, V.V. & Cooper, D.N. (1995) Polymorphic variation in the human protein C (PROC) gene promoter can influence transcriptional efficiency in vitro. Blood Coagulation and Fibrinolysis, 6, 317-321.
39. Shen, L. & Dalhbäck, B. (1994) Factor V and protein S as synergistic cofactors to activated protein C degradation of factor VIIIa. Journal of Biological Chemistry, 269, 18735-18738.
40. Simioni, P., Scudeller, A., Radossi, P., Gavasso, S., Girolami, B., Tormene, D. & Girolami, A. (1996) 'Pseudo homozygous' activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type 1 quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds. Thrombosis and Haemostasis, 75, 422-426.
41. Spek, C.A., Koster, T., Rosendaal, F.R., Bertina, R.M. & Reitsma, P.H. (1995) Genotypic variation in the promoter region of the protein C gene, is associated with plasma protein C levels and thrombotic risk. Arteriosclerosis, Thrombosis and Vascular Biology, 15, 214-218.
42. Spek, C.A., Poort, S.R., Bertina, R.M. & Reitsma, P.H. (1994) Determination of the allelic and haplotype frequencies of three polymorphisms in the promoter region of the human protein C gene. Blood Coagulation and Fibrinolysis, 5, 309-311.
43. Svensson, P.J. & Dahlbäck, B. (1994) Resistance to activated protein C as a basis for venous thrombosis. New England Journal of Medicine, 330, 517-522.
44. Tosetto, A., Missiaglia, E., Frezzato, M. & Rodeghiero, F. (1997) The VITA project: C677T mutation in the methylene-tetrahydrofolate reductase gene and risk of venous thromboembolism. British Journal of Haematology, 97, 804-806.
45. Tregouët, D.A., Ducimetiere, P. & Tiret, L. (1997) Testing association between candidate-gene markers and phenotype in related individuals, by use of estimating equations. American Journal of Human Genetics, 61, 189-199.
46. Van Boven, H.H., Reitsma, P.H., Rosendaal, F.R., Bayston, T.A., Chowdhury, V., Bauer, K.A., Scharrer, I., Conard, J. & Lane, D.A. (1996) Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thrombosis and Haemostasis, 75, 417-421.
47. R506Q mutation. Thrombosis and Haemostasis, 76, 208-214.
48. 677T mutation. Arteriosclerosis, Thrombosis and Vascular Biology, 16, 878-882.
49. Zöller, B., Berntsdotter, A., Garcia de Frutos, P. & Dahlbäck, B. (1995) Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood, 85, 3518-3523.
50. Zöller, B., Svensson, P.J., He, X. & Dahlbäck, B. (1994) Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. Journal of Clinical Investigation, 94, 2521-2524.