Risk of recurrent venous thrombosis in patients with G20210A mutation in the prothrombin gene or factor V Leiden mutation

Blood Coagulation and Fibrinolysis

Volumn 17, Issue 1, 2006, Pages 23-28

  González Porras, José Ramón ^a   García Sanz, Ramón ^a   Alberca, Ignacio ^a   López, María Luz ^a   Balanzategui, Ana ^a   Gutierrez, Oliver ^b   Lozano, Francisco ^a   San Miguel, Jesús ^a  

^a HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

^b HOSPITAL UNIVERSITARIO RÍO HORTEGA   (Spain)

Author keywords

Factor V Leiden; G20210A prothrombin mutation; Methylene tetrahydrofalate reductase; Recurrent venous thromboembolism; Venous thrombosis

Indexed keywords

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

ADOLESCENT; ADULT; AGED; ARTICLE; BIOLOGICAL ACTIVITY; CARDIOVASCULAR RISK; CHILD; CLINICAL FEATURE; CONFIDENCE INTERVAL; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; DISEASE ASSOCIATION; FEMALE; FOLLOW UP; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; PROSPECTIVE STUDY; RECURRENT DISEASE;

EID: 31644446683     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mbc.0000201488.33143.09     Document Type: Article

References (44)

1. Nordstrom M, Lindblad B, Bergqvist D, Kjellstrom T. A prospective study of the incidence of deep-vein thrombosis within a defined urban population. J Intern Med 1992; 232:155-160.
2. 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; 88:3698-3703.
3. Rosendaal FR, Doggen CJ, Zivelin A, Arruda VR, Aiach M, Siscovick DS, et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998; 79:706-708.
4. Ridker PM, Hennekens CH, Miletich JP. G20210A mutation in prothrombin gene and risk of myocardial infarction, stroke, and venous thrombosis in a large cohort of US men. Circulation 1999; 99:999-1004.
5. Koster T, Rosendaal FR, de 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.
6. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369:64-67.
7. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. 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; 332:912-917.
8. 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; 90:1004-1008.
9. Kluijtmans LA, den Heijer M, Reitsma PH, Heil SG, Blom HJ, Rosendaal FR. Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis. Thromb Haemost 1998; 79:254-258.
10. Frederiksen J, Juul K, Grande P, Jensen GB, Schroeder TV, Tybjaerg-Hansen A, Nordestgaard BG. Methylenetetrahydrofolate reductase polymorphism (C677T), hyperhomocysteinemia, and risk of ischemic cardiovascular disease and venous thromboembolism: prospective and case-control studies from the Copenhagen City Heart Study. Blood 2004; 104:3046-3051.
11. Ray JG, Shmorgun D, Chan WS. Common C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of venous thromboembolism: meta-analysis of 31 studies. Pathophysiol Haemost Thromb 2002; 32:51-58.
12. Salomon O, Rosenberg N, Zivelin A, Steinberg DM, Kornbrot N, Dardik R, et al. Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymorphisms are not risk factors for idiopathic venous thromboembolism. Hematol J 2001; 2:38-41.
13. Miles JS, Miletich JP, Goldhaber SZ, Hennekens CH, Ridker PM. G20210A mutation in the prothrombin gene and the risk of recurrent venous thromboembolism. J Am Coll Cardiol 2001; 37:215-218.
14. Simioni P, Prandoni P, Lensing AW, Manfrin D, Tormene D, Gavasso S, et al. Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis. Blood 2000; 96:3329-3333.
15. De Stefano V, Martinelli I, Mannucci PM, Paciaroni K, Rossi E, Chiusolo P, et al. The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation. Br J Haematol 2001; 113:630-635.
16. Eichinger S, Minar E, Hirschl M, Bialonczyk C, Stain M, Mannhalter C, et al. The risk of early recurrent venous thromboembolism after oral anticoagulant therapy in patients with the G20210A transition in the prothrombin gene. Thromb Haemost 1999; 81:14-17.
17. Lindmarker P, Schulman S, Sten-Linder M, Wiman B, Egberg N, Johnsson H. The risk of recurrent venous thromboembolism in carriers and non-carriers of the G1691A allele in the coagulation factor V gene and the G20210A allele in the prothrombin gene. DURAC Trial Study Group. Duration of Anticoagulation. Thromb Haemost 1999; 81:684-689.
18. Baglin C, Brown K, Luddington R, Baglin T. Risk of recurrent venous thromboembolism in patients with the factor V Leiden (FVR506Q) mutation: effect of warfarin and prediction by precipitating factors. East Anglian Thrombophilia Study Group. Br J Haematol 1998; 100:764-768.
19. Margaglione M, D'Andrea G, Colaizzo D, Cappucci G, del Popolo A, Brancaccio V, et al. Coexistence of factor V Leiden and factor II A20210 mutations and recurrent venous thromboembolism. Thromb Haemost 1999; 82:1583-1587.
20. Meinardi JR, Middeldorp S, de Kam PJ, Koopman MM, van Pampus EC, Hamulyak K, et al. The incidence of recurrent venous thromboembolism in carriers of factor V Leiden is related to concomitant thrombophilic disorders. Br J Haematol 2002; 116:625-631.
21. Rintelen C, Pabinger I, Knobl P, Lechner K, Mannhalter C. Probability of recurrence of thrombosis in patients with and without factor V Leiden. Thromb Haemost 1996; 75:229-232.
22. Ridker PM, Miletich JP, Stampfer MJ, Goldhaber SZ, Lindpaintner K, Hennekens CH. Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. Circulation 1995; 92:2800-2802.
23. Simioni P, Prandoni P, Lensing AW, Scudeller A, Sardella C, Prins MH, et al. The risk of recurrent venous thromboembolism in patients with an Arg506→Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med 1997; 336:399-403.
24. Middeldorp S. Thrombophilic defects [education program book]. Hematology 2004; 1:424-438.
25. den Heijer M, Blom HJ, Gerrits WB, Rosendaal FR, Haak HL, Wijermans PW, Bos GM. Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet 1995; 345:882-885.
26. Tsai AW, Cushman M, Tsai MY, Heckbert SR, Rosamond WD, Aleksic N, et al. Serum homocysteine, thermolabile variant of methylene tetrahydrofolate reductase (MTHFR), and venous thromboembolism: Longitudinal Investigation of Thromboembolism Etiology (LITE). Am J Hematol 2003; 72:192-200.
27. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10:111-113.
28. te Poele-Pothoff MT, van den BM, Franken DG, Boers GH, Jakobs C, de Kroon IF, et al. Three different methods for the determination of total homocysteine in plasma. Ann Clin Biochem 1995; 32(Pt 2):218-220.
29. Pabinger I, Allaart CF, Hermans J, Briet E, Bertina RM. Hereditary protein C-deficiency: laboratory values in transmitters and guidelines for the diagnostic procedure. Report on a study of the SSC Subcommittee on Protein C and Protein S. Protein C Transmitter Study Group. Thromb Haemost 1992; 68:470-474.
30. De Stefano V, Martinelli I, Mannucci PM, Paciaroni K, Chiusolo P, Casorelli I, et al. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med 1999; 341:801-806.
31. Eichinger S, Pabinger I, Stumpflen A, Hirschl M, Bialonczyk C, Schneider B, et al. The risk of recurrent venous thromboembolism in patients with and without factor V Leiden. Thromb Haemost 1997; 77:624-628.
32. Baglin T, Luddington R, Brown K, Baglin C. Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study. Lancet 2003; 362:523-526.
33. Cumming AM, Keeney S, Salden A, Bhavnani M, Shwe KH, Hay CR. The prothrombin gene G20210A variant: prevalence in a U.K. anticoagulant clinic population. Br J Haematol 1997; 98:353-355.
34. Cattaneo M, Chantarangkul V, Taioli E, Santos JH, Tagliabue L. The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep-vein thrombosis: prevalence and association with factor V G1691A, methylenetetrahydrofolate reductase C677T and plasma prothrombin levels. Thromb Res 1999; 93:1-8.
35. Souto JC, Coll I, Llobet D, del Rio E, Oliver A, Mateo J, et al. The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population. Thromb Haemost 1998; 80:366-369.
36. Gerhardt A, Scharf RE, Beckmann MW, Struve S, Bender HG, Pillny M, et al. Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. N Engl J Med 2000; 342:374-380.
37. White RH. The epidemiology of venous thromboembolism. Circulation 2003; 107:I4-I8.
38. Procare Group. Comparison of thrombotic risk between 85 homozygotes and 481 heterozygotes carriers of the factor V Leiden mutation: retrospective analysis from the Procare Study. Blood Coagul Fibrinolysis 2000; 11:511-518.
39. Procare Group. Is recurrent venous thromboembolism more frequent in homozygous patients for the factor V Leiden mutation than in heterozygous patients? Blood Coagul Fibrinolysis 2003; 14:523-529.
40. Brattstrom L, Wilcken DE, Ohrvik J, Brudin L. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: the result of a meta-analysis. Circulation 1998; 98:2520-2526.
41. Eichinger S, Stumpflen A, Hirschl M, Bialonczyk C, Herkner K, Stain M, et al. Hyperhomocysteinemia is a risk factor of recurrent venous thromboembolism. Thromb Haemost 1998; 80:566-569.
42. Keijzer MB, den Heijer M, Blom HJ, Bos GM, Willems HP, Gerrits WB, Rosendaal FR. Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. Thromb Haemost 2002; 88:723-728.
43. Douketis JD, Kearon C, Bates S, Duku EK, Ginsberg JS. Risk of fatal pulmonary embolism in patients with treated venous thromboembolism. JAMA 1998; 279:458-462.
44. Eichinger S, Weltermann A, Minar E, Stain M, Schonauer V, Schneider B, Kyrle PA. Symptomatic pulmonary embolism and the risk of recurrent venous thromboembolism. Arch Intern Med 2004; 164:92-96.