The largest prospective warfarin-treated cohort supports genetic forecasting

Blood

Volumn 113, Issue 4, 2009, Pages 784-792

  Wadelius, Mia ^a   Chen, Leslie Y ^b   Lindh, Jonatan D ^c   Eriksson, Niclas ^d   Ghori, Mohammed J R ^b   Bumpstead, Suzannah ^b   Holm, Lennart ^c   McGinnis, Ralph ^b   Rane, Anders ^c   Deloukas, Panos ^b  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c KAROLINSKA INSTITUTE   (Sweden)

^d UPPSALA CLINICAL RESEARCH CENTER   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 2C9; MENADIONE EPOXIDE; WARFARIN; ANTICOAGULANT AGENT; CYP2C9 PROTEIN, HUMAN; UNSPECIFIC MONOOXYGENASE;

ADULT; AGED; ANTICOAGULANT THERAPY; ARTICLE; BLEEDING; BRAIN INFARCTION; CARDIOMYOPATHY; CLINICAL EFFECTIVENESS; COHORT ANALYSIS; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; DRUG RESPONSE; DRUG WITHDRAWAL; FEMALE; GENE CLUSTER; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HEART ATRIUM FIBRILLATION; HEART FAILURE; HUMAN; LUNG EMBOLISM; MAJOR CLINICAL STUDY; MALE; PHARMACOGENETICS; PREDICTOR VARIABLE; PRIORITY JOURNAL; PROSPECTIVE STUDY; REGRESSION ANALYSIS; RISK; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSIENT ISCHEMIC ATTACK; ALGORITHM; CHEMICALLY INDUCED DISORDER; CLINICAL TRIAL; DOSE RESPONSE; GENETICS; METABOLISM; MIDDLE AGED; MULTICENTER STUDY; SURVIVAL RATE; TIME; TREATMENT OUTCOME;

AGED; ALGORITHMS; ANTICOAGULANTS; ARYL HYDROCARBON HYDROXYLASES; COHORT STUDIES; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; GENOTYPE; HEMORRHAGE; HUMANS; MALE; MIDDLE AGED; PHARMACOGENETICS; PROSPECTIVE STUDIES; SURVIVAL RATE; TIME FACTORS; TREATMENT OUTCOME; WARFARIN;

EID: 59649117935     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-04-149070     Document Type: Article

References (50)

1. Landefeld C, Beyth R. Anticoagulant-related bleeding: clinical epidemiology, prediction and prevention. Am J Med. 1993;95:315-328.
2. Aithal G, Day C, Kesteven P, Daly A. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet. 1999;353:717-719.
3. Loebstein R, Yonath H, Peleg D, et al. Interindividual variability in sensitivity to warfarin-Nature or nurture? Clin Pharmacol Ther. 2001;70:159-164.
4. Wadelius M, Pirmohamed M. Pharmacogenetics of warfarin: current status and future challenges. Pharmacogenomics J. 2007;7:99-111.
5. Rettie AE, Wienkers LC, Gonzalez FJ, Trager WF, Korzekwa KR. Impaired (S)-warfarin metabolism catalysed by the R144C allelic variant of CYP2C9. Pharmacogenetics. 1994;4:39-42.
6. Kaminsky L, Zhang Z. Human P450 metabolism of warfarin. Pharmacol Ther. 1997;73:67-74.
7. Walton R, Kimber M, Rockett K, Trafford C, Kwiatkowski D, Sirugo G. Haplotype block structure of the cytochrome P450 CYP2C gene cluster on chromosome 10. Nat Genet. 2005;37:915-916.
8. Steward DJ, Haining RL, Henne KR, et al. Genetic association between sensitivity to warfarin and expression of CYP2C9*3. Pharmacogenetics. 1997;7:361-367.
9. Bell RG, Sadowski JA, Matschiner JT. Mechanism of action of warfarin. Warfarin and metabolism of vitamin K 1. Biochemistry. 1972;11:1959-1961.
10. Li T, Chang CY, Jin DY, Lin PJ, Khvorova A, Stafford DW. Identification of the gene for vitamin K epoxide reductase. Nature. 2004;427:541-544.
11. Rost S, Fregin A, Ivaskevicius V, et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature. 2004;427:537-541.
12. Rieder MJ, Reiner AP, Gage BF, et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med. 2005;352: 2285-2293.
13. Yuan HY, Chen JJ, Lee MT, et al. A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity. Hum Mol Genet. 2005;14:1745-1751.
14. Sconce EA, Khan TI, Wynne HA, et al. The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a new dosing regimen. Blood. 2005;106:2329-2333.
15. Veenstra DL, You JH, Rieder MJ, et al. Association of Vitamin K epoxide reductase complex 1 (VKORC1) variants with warfarin dose in a Hong Kong Chinese patient population. Pharmacogenet Genomics. 2005;15:687-691.
16. Vecsler M, Loebstein R, Almog S, et al. Combined genetic profiles of components and regulators of the vitamin K-dependent gamma-carboxylation system affect individual sensitivity to warfarin. Thromb Haemost. 2006;95:205-211.
17. Takahashi H, Wilkinson GR, Nutescu EA, et al. Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans. Pharmacogenet Genomics. 2006;16:101-110.
18. Aquilante CL, Langaee TY, Lopez LM, et al. Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements. Clin Pharmacol Ther. 2006;79:291-302.
19. Wadelius M, Chen LY, Downes K, et al. Common VKORC1 and GGCX polymorphisms associated with warfarin dose. Pharmacogenomics J. 2005; 5:262-270.
20. Schwarz UI, Ritchie MD, Bradford Y, et al. Genetic determinants of response to warfarin during initial anticoagulation. N Engl J Med. 2008;358: 999-1008.
21. Higashi M, Veenstra D, Kondo L, et al. Association between CYP 2C9 genetic variants and anticoagulation- related outcomes during warfarin treatment. JAMA. 2002;287:1690-1698.
22. Peyvandi F, Spreafico M, Siboni SM, Moia M, Mannucci PM. CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulant therapy. Clin Pharmacol Ther. 2004; 75:198-203.
23. Joffe HV, Xu R, Johnson FB, Longtine J, Kucher N, Goldhaber SZ. Warfarin dosing and cytochrome P450 2C9 polymorphisms. Thromb Haemost. 2004;91:1123-1128.
24. Margaglione M, Colaizzo D, D'Andrea G, et al. Genetic modulation of oral anticoagulation with warfarin. Thromb Haemost. 2000;84:775-778.
25. Limdi NA, McGwin G, Goldstein JA, et al. Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin. Clin Pharmacol Ther. 2008;83: 312-321.
26. Lindh JD, Lundgren S, Holm L, Alfredsson L, Rane A. Several-fold increase in risk of overanticoagulation by CYP2C9 mutations. Clin Pharmacol Ther. 2005;78:540-550.
27. Lindh JD, Holm L, Dahl ML, Alfredsson L, Rane A. Incidence and predictors of severe bleeding during warfarin treatment. J Thromb Thrombolysis. 2008;25:151-159.
28. Wadelius M, Chen LY, Eriksson N, et al. Association of warfarin dose with genes involved in its action and metabolism. Hum Genet. 2007;121: 23-34.
29. Kohnke H, Sörlin K, Granath G,Wadelius M.Warfarin dose related to apolipoprotein E (APOE) genotype. Eur J Clin Pharmacol. 2005;61:381-388.
30. Sconce EA, Daly AK, Khan TI, Wynne HA, Kamali F. APOE genotype makes a small contribution to warfarin dose requirements. Pharmacogenet Genomics. 2006;16:609-611.
31. Kohnke H, Scordo MG, Pengo V, Padrini R, Wadelius M. Apolipoprotein E (APOE) and warfarin dosing in an Italian population. Eur J Clin Pharmacol. 2005;61:781-783.
32. Kimura R, Miyashita K, Kokubo Y, et al. Genotypes of vitamin K epoxide reductase, gammaglutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients. Thromb Res. 2007;120:181-186.
33. Rieder MJ, Reiner AP, Rettie AE. gamma-Glutamyl carboxylase (GGCX) tagSNPs have limited utility for predicting warfarin maintenance dose. J Thromb Haemost. 2007;5:2227-2234.
34. Shikata E, Ieiri I, Ishiguro S, et al. Association of pharmacokinetic (CYP2C9) and pharmacodynamic (factors II, VII, IX, and X; proteins S and C; and gamma-glutamyl carboxylase) gene variants with warfarin sensitivity. Blood. 2004;103:2630-2635.
35. Chen LY, Eriksson N, Gwilliam R, Bentley D, Deloukas P, Wadelius M. Gamma-glutamyl carboxylase (GGCX) microsatellite and warfarin dosing. Blood. 2005;106:3673-3674.
36. Herman D, Peternel P, Stegnar M, Breskvar K, Dolzan V. The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement. Thromb Haemost. 2006; 95:782-787.
37. Lindh JD, Kublickas M, Westgren M, Rane A. Internet based clinical trial protocols-as applied to a study of warfarin pharmacogenetics. Br J Clin Pharmacol. 2004;58:482-487.
38. WHO. Glossary of terms related to patient and medication safety. Vol. 2008: Council of Europe: Committee of Experts on Management of Safety and Quality in Health Care (SP-SQS) Expert Group on Safe Medication Practices; 2005.
39. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265.
40. Whittaker P, Bumpstead S, Downes K, Ghori J, Deloukas P. Single nucleotide polymorphism analysis by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. In: Celis J, ed. Cell Biology: A Laboratory Handbook (3rd ed): Elsevier; 2006.
41. Cheverud JM. A simple correction for multiple comparisons in interval mapping genome scans. Heredity. 2001;87:52-58.
42. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet. 2004;74:765-769.
43. Li H. A permutation procedure for the haplotype method for identification of disease-predisposing variants. Ann Hum Genet. 2001;65:189-196.
44. Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science. 2002;296:2225-2229.
45. Dudbridge F. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol. 2003;25: 115-121.
46. Pritchard JK, Przeworski M. Linkage disequilibrium in humans: models and data. Am J Hum Genet. 2001;69:1-14.
47. Gage BF, Lesko LJ. Pharmacogenetics of warfarin: regulatory, scientific, and clinical issues. J Thromb. 2008;25:45-51.
48. Wu AH. Use of genetic and nongenetic factors in warfarin dosing algorithms. Pharmacogenomics. 2007;8:851-861.
49. Caraco Y, Blotnick S, Muszkat M. CYP2C9 genotype- guided warfarin prescribing enhances the efficacy and safety of anticoagulation: a prospective randomized controlled study. Clin Pharmacol Ther. 2008;83:460-470.
50. Anderson JL, Horne BD, Stevens SM, et al. Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulation. Circulation. 2007;116:2563-2570.