Genetic polymorphisms associated with acute pulmonary embolism and deep venous thrombosis

European Respiratory Journal

Volumn 21, Issue 1, 2003, Pages 25-30

  Nizankowska Mogilnicka, E ^a   Adamek, L ^a   Grzanka, P ^a   Domagala, T B ^a   Sanak, M ^a   Krzanowski, M ^a   Szczeklik, A ^a  

^a JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

Author keywords

Deep venous thrombosis; Factor V Leiden; Polymorphisms of methylenetetrahydrofolate reductase; Prothrombin factor II G20210A; Pulmonary embolism; Thrombophilia

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PROTEIN C; PROTHROMBIN;

ACUTE DISEASE; ADULT; AGED; ARTICLE; BED REST; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; ENVIRONMENTAL FACTOR; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; HOSPITALIZATION; HUMAN; IMMOBILIZATION; LEG; LUNG EMBOLISM; MAJOR CLINICAL STUDY; MALE; OBESITY; PREVALENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; RISK FACTOR;

CASE-CONTROL STUDIES; FACTOR V; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; POINT MUTATION; POLYMORPHISM, GENETIC; PROTHROMBIN; PULMONARY EMBOLISM; RISK FACTORS; VENOUS THROMBOSIS;

EID: 0037245839     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.03.00034302     Document Type: Article

References (33)

1. Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344: 1222-1231.
2. Torbicki A, van Beek EJR, Charbonnier B, et al. Guidelines on diagnosis and management of acute pulmonary embolism. Eur Heart J 2000; 21: 1301-1336.
3. Ferrari B, Baudouy M, Cerboni P, et al. Clinical epidemiology of venous thromboembolic disease. Results of a French multicenter registry. Eur Heart J 1997; 18: 685-691.
4. Koster T, Rosendaal FR, Ronde H, Briet E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet 1993; 342: 1503-1506.
5. Isotalo PA, Donnely JG. Prevalence of methylenetetrahydrofolate reductase mutations in patients with venous thrombosis. Mol Diagn 2000; 5: 59-66.
6. Morelli VM, Lourenco DM, D'Almeida V, et al. Hyperhomocysteinemia increases the risk of venous thrombosis independent of the C677T mutation of the methylenetetrahydrofolate reductase gene in selected brazilian patients. Blood Coagul Fibrinolysis 2002; 13: 271-275.
7. Simioni P, Prandoni P, Burlina A, et al. Hyperhomocystinemia and deep-vein thrombosis. Thromb Haemost 1996; 76: 883-886.
8. Hirsh J, Hoak J. Management of deep vein thrombosis and pulmonary embolism. Circulation 1996; 93: 2212-2245.
9. Celi A, Palla A, Petruzelli S, et al. Prospective study of a standardised questionnaire to improve clinical estimate of pulmonary embolism. Chest 1989; 95: 332-337.
10. Wells PS, Hirsh J, Anderson DR, et al. Accuracy of clinical assessment of deep-vein thrombosis. Lancet 1995; 345: 1326-1330.
11. Remy-Jardin M, Remy J, Wattinner L, Giraud F. Central pulmonary thromboembolism: diagnosis with spiral volumetric CT with the single-breath-hold technique-comparison with pulmonary angiography. Radiology 1992; 185: 381-387.
12. Beauchamp NJ, Dally ME, Hampton KK, et al. High prevalence of mutation in factor V gene within UK population relationship to activated protein C resistance and familial thrombosis. Br J Haematol 1994; 88: 219-222.
13. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet 1995; 10: 111-113.
14. Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic variant in 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and increase in venous thrombosis. Blood 1996; 88: 3698-3703.
15. Van der Put NM, Gabreels F, Stevens EM, et al. A second mutation in the methylenetatrahydrofolate reductase gene: an additional risk factor for neutral tube defects? Am J Hum Genet 1998; 62: 1044-1051.
16. Frantzen Handeland G, Abildgaard U, Aasen AD. Simplified assay for antithrombin III activity using chromogenic peptide substrate. Scand J Haematol 1983; 31: 427-436.
17. Espana F, Estelles A, Acnar J, Gilabert J. Assay of protein C in human plasma: comparison of amidolytic, coagulation and immunochemical factors. Thromb Res 1986; 44: 771-782.
18. Amiral J, Grosley M, Boyer-Neumann C, et al. New direct assay of free protein S antigen using two distinct monoclonal antibodies specific for free form. Blood Coagul Fibrinolysis 1994; 5: 179-186.
19. Mansoor MA, Svardal AM, Ueland PM. Determination of the in vivo redox status of cysteine, cysteinglycine, homocysteine and glutathione in human plasma. Anal Biochem 1992; 200: 218-229.
20. Brandt JT, Triplett DA, Alving B, Scharrer I. Criteria for the diagnosis of lupus anticoagulants: an update. Thromb Haemost 1995; 74: 1185-1190.
21. Sheehe PR. Combination of log relative risk in retrospective studies of diseases. J Am Pub Health Nations Health 1966; 56: 1745-1750.
22. Mudd SH, Finkelstein JD, Refsum H, et al. Homocysteine and its disulfide derivatives. A suggested consensus terminology. Arterioscler Thromb Vasc Biol 2000; 20: 1704-1706.
23. Goldhaber SZ, Visani L, De Rosa M. Acute pulmonary embolism: clinical outcomes in the International Cooperative Pulmonary Embolism Registry (ICOPER). Lancet 1999; 353: 1386-1389.
24. Stein PD, Huang H, Afzal A, Noor H. Incidence of acute pulmonary embolism in a general hospital. Relation to age, sex and race. Chest 1999; 116: 909-913.
25. Nordstrom M, Lindlad B. Autopsy-verified venous thromboembolism within a defined urban population the city of Malmoe, Sweden. APMIS 1998; 106: 378-384.
26. Silverstein MC. Trends in the incidence of the deep venous thrombosis and pulmonary embolism: a 25 year population based study. Arch Intern Med 1998; 158: 585-593.
27. Kasper W, Konstantinides S, Geibel A, et al. Management strategies and determinants of outcome in acute major pulmonary embolism: results of a multicenter registry. J Am Coll Cardiol 1997; 30: 1165-1171.
28. 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. Thromb Haemost 2001; 86: 809-816.
29. Herrman F, Koesling M, Schroder W, et al. Prevalence of factor V Leiden mutation in various populations. Gen Epidemiol 1997; 14: 403-411.
30. Bounameaux H. Factor V Leiden paradox: risk of deep vein thrombosis but not of pulmonary embolism. Lancet 2000; 356: 182-183.
31. Bauer KA, Humpries S, Smilie B, et al. Prothrombin activation is increased among asymptomatic carriers of the prothrombin G20210A and factor V Arg506Gln mutations. Thromb Haemost 2000; 84: 396-400.
32. Szczeklik A, Sanak M, Jankowski M, et al. Mutation A1298C of methylenetetrahydrofolate reductase: Risk for early coronary disease not associated with hyperhomocysteinemia. Am J Med Gen 2001; 101: 36-39.
33. D'Angelo A, Beltrametti C. Venous disease. In: Carmel R, Jacobsen DW (eds). Homocysteine in health and disease. Cambridge University Press, UK, 2001; pp. 401-414.