Prothrombin gene G20210A mutation in acute deep venous thrombosis patients with poor response to warfarin therapy

Open Cardiovascular Medicine Journal

Volumn 3, Issue , 2009, Pages 147-151

  Attia, F M ^a   Mikhailidis, D P ^b   Reffat, S A ^a  

^a Suez Canal University Faculty of Medicine   (Egypt)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Deep venous thrombosis; Gene mutation; Prothrombin; Warfarin

Indexed keywords

ANTITHROMBIN III; CARDIOLIPIN ANTIBODY; ENOXAPARIN; PROTEIN C; PROTEIN S; PROTHROMBIN; WARFARIN;

ADULT; ANTICOAGULANT THERAPY; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; DRUG RESPONSE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC RISK; HUMAN; MALE; MUTATION RATE; PATHOGENESIS; PRIORITY JOURNAL; RECURRENT DISEASE; RISK FACTOR;

EID: 77953450300     PISSN: None     EISSN: 18741924     Source Type: Journal    
DOI: 10.2174/1874192400903010147     Document Type: Article

References (28)

1. Meissner MH, Strandness E. Pathophysiology and nature history of acute DVT. In: Robert BR, Ed. Vascular Surgery. Philadelphia: Elsevier Saunders 2005; pp. 2124-42.
2. Miletich JP, Prescott SM, White R, Majems PW, Bovill EG. Inherited predisposition to thrombosis. Cell 1993; 72: 477-80.
3. Bertina RM, van Tilburg NH, de Fouw NJ, Haverkate F. Thrombin, a link between coagulation activation and fibrinolysis. Ann NY Acad Sci 1994; 369: 64-7.
4. Dang QD, Vindigni A, di Cera E. An allosteric switch controls the procoagulant and anticoagulant activities of thrombin. Proc Natl Acad Sci USA 1995; 92: 5975-9.
5. Graham FP, Russell DH. Prevention and medical treatment of acute DVT. In Robert BR, Ed. Vascular Surgery. Philadelphia: Elsevier Saunders 2005; pp. 2257-78.
6. 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.
7. Douglas A. Contemporary thrombosis debates. Med Clin N Am 2003; 87: 6-10.
8. Degen SJF, Davie EW. Nucleotide sequence of the gene for human prothrombin. Biochemistry 1987; 26: 6162-8.
9. Royle NJ, Irwin DM, Koschinsky ML, MacGillivray RTA, Hamerton JL. Human genes encoding prothrombin and ceruloplasmin map to llpll-q12 and 3q21-24, respectively. Somat Cell Mol Genet 1987; 13: 285-9.
10. Alhenc-Gelas M, Arnaud E, Nicaud V, et al. Venous thromboembolic disease and the prothrombin, methylene tetrahydrofolate reductase and factor V genes. Thromb Haemost 1999; 81: 506-10.
11. Arruda VD, Bizzacchi JM, Goncalves MS, et al. Prevalence of the prothrombin gene variant (nt 20210A) in venous thrombosis and arterial disease. Thromb Haemost 1997; 78: 1430-3.
12. Rosendaal FR, Doggen CJM, Zivelin A, et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998; 79: 706-8.
13. Dilley A, Hooper WC, Austin H, Lally C, Wenger NK, Evatt BL. The prevalence of the prothrombin 20210 G-A variant in African Americans. Blood 1997; 90: 652-3.
14. Franco RF, Elion J, Tavella MH, Araujo AG, Zago MA. Heterogeneous distribution of the 20210 G-A prothrombin and 677 C-T methylenetetrahydrofolate reductase mutations in different human populations: Relevance for vascular disease risk. Blood 1997; 90: 3130-1.
15. Routledge PA, Shetty HMG, White JP, Collins P. Case studies in therapeutics: Warfarin resistance and inefficacy in a man with recurrent thromboembolism and anticoagulant associated priapism. Br J Clin Pharmacol 1998; 46: 343-6.
16. Ronen L, Ilana D, Hillel H, et al. A Coding VKORC1Asp36Tyr Polymorphism predispose to warfarin resistance. Blood 2007; 109: 2477-80.
17. Harrington DJ, Underwood S, Morse C, Shearer MJ, Tuddenham EG, Mumford AD. Pharmacodynamic resistance to warfarin associated with a Val66Metsubstitution in vitamin K epoxide reductase complex subunit. Thromb Haemost 2005; 93: 23-6.
18. Elizabeth AV, Stephan M. Prothrombin 20210 mutation [factor II mutation). Circulation 2004; 110: 15-8.
19. Hans-Joachim P, Simone R, Mirja H, et al. The genetic basis of resistance to anticoagulants in rodents. Genetics 2005; 170: 1839-47.
20. Von Ahsen N, Schütz E, Armstrong V, Oellerich M. Rapid Detection of Prothrombotic Mutations of Prothrombin (G20210A), Factor V (G1691A), and Methylenetetrahydrofolate Reductase (C677T) by Real-Time Fluorescence PCR with the LightCycler. Clin Chem 1999; 45: 694-6.
21. Roche Applied Science Customer Service: 1-800-262-1640 www.lightcycler-online.com
22. Russo C, Girelli D, Olivieri O, et al. G20210A prothrombin gene polymorphism and prothrombin activity in subjects with or without angiographically documented coronary artery disease. Circulation 2001; 22: 2436-40.
23. Jackson CM. Physiology and biochemistry of prothrombin. In: Bloom A, Forbes CD, Thomas DP, et al. Eds. Haemostasis and Thrombosis. Edinburgh, UK: Churchill Livingstone 1994; pp. 397-438.
24. Muhamed AN, Masood A, Waqar A, Muhammed A, Nasirddin A. Prevalence of prothrombin gene mutation G-A20210 in general population: A pilot study. Clin Appl Thromb Haemostas 2006; 12: 223-6.
25. Souto JC, Mateo J, Soria JM, et al. Homozygotes for prothrombin gene 20210A allele in thrombophilic family without clinical manifestation of venous thromboembolism. Haematologica 1999; 84: 627-31.
26. Bernd J, Sridhar K, Lip GYH. Antithrombotic therapy in special circumstances. II - In children, thrombophilia, and miscellaneous conditions. Br Med J 2003; 326: 93-6.
27. Mant MJ, Stang L, Etches WS. Warfarin monitoring in patients with anticardiolipin antibodies, but without lupus anticoagulants. Thromb Res 2000; 99: 477-82.
28. Leung A, Huang CK, Muto R, Liu Y, Pan Q. CYP2C9 and VKORC1 genetic polymorphism analysis might be necessary in patients with factor V Leiden and prothrombin gene G2021A mutation(s). Diagn Mol Pathol 2007; 16: 184-6.