Resistance to activated protein C in patients with deep vein thrombosis and/or pulmonary embolism: Molecular genetic study of prevalence among patients from various regions in Germany;APC-resistenz und venose thrombophilie: Molekular-genetische pravalenzstudie in der deutschen bevolkerung

Deutsche Medizinische Wochenschrift

Volumn 124, Issue 25-26, 1999, Pages 783-787

  Ehrenforth, Silke ^a   Klinke, S ^b   Von Depka Prondzinski, M ^b   Kreuz, W ^b   Ganser, A ^b   Scharrer, I ^b  

^a GOETHE UNIVERSITY   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; DNA FRAGMENT; BLOOD CLOTTING FACTOR 5 LEIDEN; DNA;

ACTIVATED PROTEIN C RESISTANCE; ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; ECHOGRAPHY; FEMALE; GENOTYPE; GERMANY; HUMAN; IMAGING; LUNG ANGIOGRAPHY; LUNG EMBOLISM; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MUTATION; PHLEBOGRAPHY; POLYMERASE CHAIN REACTION; PREVALENCE; RESTRICTION MAPPING; SCINTISCANNING; ADOLESCENT; ADULT; CHEMISTRY; CHILD; GENETICS; HETEROZYGOTE; HOMOZYGOTE; INFANT; MIDDLE AGED; POINT MUTATION; PRESCHOOL CHILD; VEIN THROMBOSIS;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA; FACTOR V; FEMALE; GERMANY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; PULMONARY EMBOLISM; RESTRICTION MAPPING; VENOUS THROMBOSIS;

EID: 0033603289     PISSN: 00120472     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-1024412     Document Type: Article

References (61)

1. 1 Ashka, I., V. Aumann, F. Bergmann, U. Budde, W. Eberl, S. Eckhof-Donovan, S. Krey, U. Nowak-Göttl, R. Schobeß, A. H. Sutor, J. Wendisch, R. Schneppenheim: Prevalence of factor V Leiden in children with thrombembolism. Europ. J. Pediat. 155 (1996), 1009-1014.
2. 2 Beauchamp, N. J., M. E. Daly, P. C. Cooper, M. Makris, F. E. Preston, I. R. Peake: Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V Leiden. Blood 88 (1996), 1700-1707.
3. 3 Bertina, R. M., B. P. C. Koeleman, T. Koster, F. R. Rosendaal, R. J. Dirven, H. de Ronde, P. A. van der Velden, P. H. Reitsma: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369 (1994), 64-67.
4. 4 Bertina, R. M., P. H. Reitsma, F. R. Rosendaal, J. P. Vandenbroucke: Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis. Thrombos. and Haemost. 74 (1995), 449-453.
5. 5 Bloemenkamp, K. W., F. R. Rosendaal, F. M. Helmerhorst, H. R. Buller, J. P. Vandenbroucke: Enhancement by factor V leiden mutation of risk of deep-vein thrombosis associated with oral contraceptives containing a third-generation progestagen. Lancet 346 (1995), 1593-1596.
6. 6 Bokarewa, M. I., K. Bremme, M. Blomback: Arg506Gln mutation in factor V and risk of thrombosis during pregnancy. Brit. J. Haematol, 92 (1996), 473-478.
7. 7 Boven van, H. A., P. H. Reitsma, F. R. Rosendaal, T. A. Bayston, V. Chowdhury, K. A. Bauer, I. Scharrer, J. Conard, D. A. Lane: Factor V Leiden (FVR506Q) in families with inherited antithrombin deficiency. Thrombos. and Haemost. 75 (1996), 417-421.
8. 8 Brenner, B., A. Zivelin, N. Lanir, J. S. Greengard, J. H. Griffin, U. Seligsohn: Venous thromboembolism associated with double heterozygosity for R50GQ mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis. Blood 88 (1996), 877-880.
9. 9 Cox, M., D. C. Rees, J. J. Martinsson, J. B. Clegg: Evidence for a single origin of factor V Leiden. Brit. J. Haematol. 92 (1996), 1022-1025.
10. 10 Dahlbäck, B., M. Carlsson, P.J. Svensson: 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. nat. Acad. Sci. 90 (1993), 1004-1008.
11. 11 Dahlbäck, B.: Inherited thrombophilia: Resistance to activated protein C as a pathogenic factor of venous thromboembolism. Blood 85 (1995), 607-614.
12. 12 Dahlbäck, B.: New molecular insights into the genetics of thrombophilia. Thrombos. and Haemost. 74 (1995), 139-148.
13. 13 Dahlbäck, B.: Are we ready for factor V Leiden screening? Lancet 347 (1996), 1346-1347.
14. 14 De Maat, M. P. M., C. Kluft, J. Jespersen, J. Gram: World distribution of factor V Leiden mutation. Lancet 347 (1996), 58.
15. 15 Desmarais, S., P. de Moerloose, G. Reber, P. Minazio, A. Perrier, H. Bounameaux: Resistance to activated protein C in an unselected population of patients with pulmonary embolism. Lancet 347 (1996), 1374-1375.
16. 16 De Stefano, V., G. Finazzi, P. M. Mannucci: Inherited thrombophilia. Pathogenesis, clinical syndromes and management. Blood 87 (1996), 3531-3544.
17. 17 Ehrenforth, S., U. Nowak-Göttl, G. Ludwig, S. Klinke, M. Krause, I. Scharrer: The prothrombin 20210 A allele is frequently coinherited in young carriers of the factor V Art 506 to Gln mutation with venous thrombophilia. Blood 91 (1998), 2209-2210.
18. 18 Ferraresi, P., G. Marchetti, C. Legnani, E. Cavallari, E. Castoldi, F. Mascoli, D. Ardissino, G. Palaretti, F. Bernardi: The heterozygous 20210 GA prothrombin genotype is associated with early venous thrombosis in inherited thrombophilia and is not increased in frequency in artery disease. Arterioslcler. Thromb. Vasc. Biol. 17 (1997), 2418-2422.
19. 19 Gandrille, S. G., J. S. Greengrad, M. Alhenc-Gelas, I. Juhan-Vague. J. F. Abgrall, B. Jude, J. H. Griffin, M, Aiach, The French Network on behalf of INSERM: Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. Blood 86 (1995), 219-224.
20. 20 Goldhaber, S. Z.: Epidemiology of pulmonary embolism and deep vein thrombosis. In Tuddenham, E. G. D., A. L. Bloom, C. D. Forbes, D. P. Thomas (Eds.): (Churchill Livingstone Edinburgh, (1994), 1327-1333.
21. 21 Greengard, J. S., X. Sun, X. Xu, J. A. Fernandez, J. H. Griffin, B, Evatt: Activated protein C resistance caused by Arg506Gln mutation in factor V a, Lancet 343 (1994), 1361-1362.
22. 22 Griffin, J. H., B. Evatt, C. Widermann, J. A. Fernandez: Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 82 (1993), 1989-1993.
23. 23 Hallam, P. J., D. S. Millar, M. Krawczak, V. V. Kakkar, D. N. Cooper: Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. J. med. Genet. 32 (1995), 543-545.
24. 24 Heijboer, H., D. P. M. Brandjes, H. R. Büller, A. Sturk, L. W. ten Cate: Deficiencies of coagulation-inhibiting and fibrinolytic prorteins in outpatients with deep vein thrombosis. New Engl. J. Med. 323 (1990), 1512-1516.
25. 25 Hellgren, M., P. J. Stevensson, B. Dahlbäck: Resistance to activated in protein C as a basis for venous thromboembolism associated with pregnancy and oral contraceptives. Amer. J. Obstet. Gynecol. 173 (1995), 210-213.
26. 26 Herrmann, F. H., M. Koesling, W. Schröder, R. Altman, R. Jimenez Bonilla, S. Lopaciuk, J. L. Perez-Requejo, J. R. Singh: Prevalence of factor V Leiden mutation in various populations. Genet. Epidemiol. 14 (1997), 403-411.
27. 27 Hirsh, D. R., K. M. Mikkola, P. W. Marks, E. A. Fox, D. M. Dorfman, B. M. Ewenstein, S. Z. Goldhaber: Pulmonary embolism and deep venous thrombosis during pregnancy or oral contraceptive use. Prevalence of factor V Leiden. Amer. Heart J. 131 (1996), 1145-1148.
28. 28 Holm, J., B. Zöller, E. Berntrop, L. Erhardt, B. Dahlbäck: Prevalence of Factor V gene mutation amongst myocardial infarction patients and healthy controls is higher in Sweden than in other countries. J. Int. med. 239 (1996), 221-226.
29. 29 Koelemann, B. P. C., P. H. Reitsma, C. F. Allaart, R. M. Bertina: Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 84 (1994), 1031-1035.
30. 30 Koelemann, B. P. C., D. van Rumpt, K. Hamulyak, P. H. Reitsma, R. M. Bertina: Factor V Leiden: An additional risk factor for thrombosis in protein S deficent families? Thrombos. and Haemost. 74 (1995), 580-583.
31. 31 Koster, T., F. R. Rosendaal, H. de Ronde, E. Briet, J. P. Vandenbroucke, R. M. Bertina: Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 342 (1993), 1503-1506.
32. 32 Lane, D. A., P. M. Mannucci, K. A. Bauer, R. M. Bertina, N. P. Boochkov, V. Boulyjenkov, M. Chandy, B. Dahlbäck, E. K. Ginter, J. P. Miletich, F. R. Rosendaal, U. Seligsohn: Inherited thrombophilia: Part 1. Thrombos. and Haemost. 76 (1996), 651-662.
33. 33 Lane, D. A., P. M. Mannucci, K. A. Bauer, R. M. Bertina, N. P. Bochkov, V. Boulyjenkov, M. Chandy, B. Dahlbäck, E. K. Ginter, J. P. Miletich, F. R. Rosendaal, U. Seligsohn: Inherited thrombophilia: Part 2. Thrombos. and Haemost. 76 (1996), 824-834.
34. 34 März, W., H. Seydewitz, B. Winkelmann, M. Chen, M. Nauck: Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary artery disease. Lancet 354 (1995), 526-527.
35. 35 Makris, M., F. E. Preston, N. J. Beauchamp, P. C. Cooper, M. E. Daly, K. K. Hampton, P. Bayliss, I. R. Peake, G. J. Miller: Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thrombos. and Haemost. 78 (1997), 1426-1429.
36. 36 Malm, J., M. Laurell, I. M. Nilsson, B. Dahlbäck: Thromboembolic disease. Critical evaluation of laboratory investigation. Thrombos. and Haemost. 68 (1992), 7-13.
37. 37 Mannucci, P. M., F. Duca, F, Peyvandi, L. Tagliabue, G. Merati, I. Martineli, M. Cattaneo: Frequency of Factor V Arg506Gln in Italians. Thrombos. and Haemost. 75 (1996), 694.
38. 38 Martinelli, I., M. Cattaneo, D. Panzeri, P. M. Mannucci: Low prevalence of Factor V: Q506 in 41 patients with isolated pulmonary embolism. Thrombos. and Haemost. 77 (1977), 440-443.
39. 39 Miletich, J. P., S. M. Prescott, R. White, P. W. Majerus, E. G. Bovill: Inherited predisposition to thrombosis. Cell 72 (1993), 477-480.
40. 40 Nordstrom, M., B. Lindblad, D. Bergqvist, T. Kjellstrom: A prospective study of the incidence of deep-vein thrombosis within a defined urban population. J. Int. Med. 232 (1992), 155-160.
41. 41 Nowak-Göttl, U., H. G. Koch, I. Aschka, B. Kohlhase, H. Vielhaber, G. Kurlemann, K. Oleszuk-Raschke, H. G. Kehl, H. Jürgens, R. Schneppenheim: Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism. Brit. J. Haematol. 92 (1996), 992-996.
42. 42 Ozawa, T., K. Niiya. N. Sakuragawa: Absence of factor V Leiden in the Japanese. Thrombos. and Haemost. 81 (1996), 585-596.
43. 43 Price, D. T., P. M. Ridker: Factor V Leiden mutation and the risk for thromboembolic disease. A clinical perspective. Ann. Intern. Med. 127 (1997), 895-903.
44. 44 Rees, D. C., M. Cox, J. B. Clegg: World distribution of factor V Leiden. Lancet 346 (1995), 1133-1134.
45. 45 Ridker, P. M., C. H. Hennekens, K. Lindpaintner, M. J. Stampfer, P. R. Eisenberg, J. P. Miletich: Mutation in the gene coding for coagulation factor V and the risk of myocardial infarct, stroke and venous thrombosis in apparently healthy men. N. Engl. J. Med. 332 (1995), 912-917.
46. 46 Ridker, P. M., R. J. Glynn, P. J. Miletich, S: Z. Goldhaber, M. J. Stampfer, C. H. Hennekens: Age-specific incidence rates of venous thromboembolism among heterozygous carriers of the factor V Leiden mutation. Ann. Intern. Med. 126 (1997), 523-528.
47. 47 Rintelen, C., C. Mannhalter, H. Ireland, D. A. Lane, P. Knobl, K. Lechner, I. Pabinger: Oral contraceptives enhance the risk of clinical manifestation of venous thrombosis at a young age in females homozygous for factor V Leiden. Brit. J. Haematol. 93 (1996), 487-490.
48. 48 Rosen, S., A: Sturk: Activated protein C resistance. A major risk factor for thrombosis. Europ. J. clin. Biochem. 35 (1997), 501-516.
49. 49 Rosendaal, F. R., T. Koster, J. P. Vandenbroucke, P. H. Reitsma: High risk of thrombosis in patients homozygous for factor V Leiden (Activated protein C resistance). Blood 85 (1995), 1504-1508.
50. 50 Rosendaal, F. R.: Oral contraceptives and screening for factor V Leiden. Thrombos. and Haemost. 75 (1996), 524-525.
51. 51 Schröder, W., M, Koessling, K. Wulff, M. Wehnert, F. H. Hermann: Large-scale screening for factor V Leiden mutation in a north-eastern German population. Lancet 347 (1996), 58-59.
52. 52 Spannagl, M., W. Schramm: APC-Resistenz bei Faktor V-Leiden. Wie hoch ist das Thromboserisiko? Dtsch. med. Wschr. 123 (1998), 137-139.
53. 53 Svensson, P. J., B. Dahlbäck: Resistance to activated protein C as a basis for venous thrombosis. New Engl. J. Med. 330 (1994), 517-522.
54. 54 Szucs, T., D. Osterkorn, W. Schramm: Gesundheitsökonomische Evaluation des Screenings auf APC-Resistenz (Mutation Leiden) bei Neuanwenderinnen von Ovulationshemmern. Med. Klin. 91 (1996), 317-319.
55. 55 Taberno, M. D., J. F. Tomas, I. Alberca, A: Orfao, A. Lopez-Borrasca, V. Vicente: Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis. Amer. J. Haematol. 36 (1991), 249-254.
56. 56 Vandenbroucke, J. P., T. Koster, E. Briet, P. H. Reitsma, R. M. Bertina, F. R. Rosendaal: Increased risk of venous thrombosis in oral-contraceptiva users who are carriers of factor V Leiden mutation. Lancet 344 (1994), 1453-1457.
57. 57 Zivelin, A., J. H. Griffin, X. Xu, I. Pabinger, M. Samama, J. Conrad, B. Brenner, A. Eldor, U. Seligsohn: A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 89 (1997), 397-402.
58. 58 Zöller, B., P. J. Svensson, X. He, B. Dahlbäck: Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.J. clin. Invest. 94 (1994), 2521-2524.
59. 59 Zöller, B., A. Berntsdotter, P. G. Frutos de, B. Dahlbäck: Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 85 (1995), 3518-3523.
60. 60 Zöller, B., A. Hillarp, B. Dahlbäck: The FVR506Q mutation causing APC-resistance has a single origin. Thrombosis Research 85 (1997), 237-243.
61. 61 Zöller, B., P. J. Svensson, B. Dahlbäck, A. Hillarp: The A20210 allele of the prothrombin gene is frequently associated with the factor V Arg506 to Gln Mutation but not with protein S deficiency in thrombophilic families. Blood 91 (1998), 2210-2211.