Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations

American Journal of Human Genetics

Volumn 82, Issue 2, 2008, Pages 495-500

  Scott, Stuart A ^a   Edelmann, Lisa ^a   Kornreich, Ruth ^a   Desnick, Robert J ^a  

^a NEW YORK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 2C9; OXIDOREDUCTASE; VITAMIN K EPOXIDE REDUCTASE COMPLEX 1; WARFARIN; ANTICOAGULANT AGENT; CYP2C9 PROTEIN, HUMAN; MENADIONE EPOXIDASE; MIXED FUNCTION OXIDASE; PRIMER DNA; UNCLASSIFIED DRUG; UNSPECIFIC MONOOXYGENASE;

ADULT; ALLELE; ANTICOAGULATION; ARTICLE; CONTROLLED STUDY; DRUG SENSITIVITY; ENVIRONMENTAL FACTOR; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HEREDITY; HUMAN; JEW; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PREDICTION; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; COMPARATIVE STUDY; DOSE RESPONSE; DRUG RESISTANCE; GENETICS;

ANTICOAGULANTS; ARYL HYDROCARBON HYDROXYLASES; DNA PRIMERS; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG RESISTANCE; GENE FREQUENCY; GENOTYPE; HUMANS; JEWS; MIXED FUNCTION OXYGENASES; PHARMACOGENETICS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROMOTER REGIONS (GENETICS); WARFARIN;

EID: 40749123052     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2007.10.002     Document Type: Article

References (33)

1. El Rouby S., Mestres C.A., LaDuca F.M., and Zucker M.L. Racial and ethnic differences in warfarin response. J. Heart Valve Dis. 13 (2004) 15-21
2. Kamali F. Genetic influences on the response to warfarin. Curr. Opin. Hematol. 13 (2006) 357-361
3. Sconce E.A., and Kamali F. Appraisal of current vitamin K dosing algorithms for the reversal of over-anticoagulation with warfarin: The need for a more tailored dosing regimen. Eur. J. Haematol. 77 (2006) 457-462
4. Wadelius M., and Pirmohamed M. Pharmacogenetics of warfarin: Current status and future challenges. Pharmacogenomics J. 7 (2007) 99-111
5. Carlquist J.F., Horne B.D., Muhlestein J.B., Lappe D.L., Whiting B.M., Kolek M.J., Clarke J.L., James B.C., and Anderson J.L. Genotypes of the cytochrome p450 isoform, CYP2C9, and the vitamin K epoxide reductase complex subunit 1 conjointly determine stable warfarin dose: A prospective study. J. Thromb. Thrombolysis 22 (2006) 191-197
6. Yin T., and Miyata T. Warfarin dose and the pharmacogenomics of CYP2C9 and VKORC1 - Rationale and perspectives. Thromb. Res. 120 (2007) 1-10
7. Zhu Y., Shennan M., Reynolds K.K., Johnson N.A., Herrnberger M.R., Valdes Jr. R., and Linder M.W. Estimation of warfarin maintenance dose based on VKORC1 (-1639 G→A) and CYP2C9 genotypes. Clin. Chem. 53 (2007) 1199-1205
8. Tham L.S., Goh B.C., Nafziger A., Guo J.Y., Wang L.Z., Soong R., and Lee S.C. A warfarin-dosing model in Asians that uses single-nucleotide polymorphisms in vitamin K epoxide reductase complex and cytochrome P450 2C9. Clin. Pharmacol. Ther. 80 (2006) 346-355
9. Sconce E.A., Khan T.I., Wynne H.A., Avery P., Monkhouse L., King B.P., Wood P., Kesteven P., Daly A.K., and Kamali F. The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: Proposal for a new dosing regimen. Blood 106 (2005) 2329-2333
10. Yuan H.Y., Chen J.J., Lee M.T., Wung J.C., Chen Y.F., Charng M.J., Lu M.J., Hung C.R., Wei C.Y., Chen C.H., et al. A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity. Hum. Mol. Genet. 14 (2005) 1745-1751
11. Kirchheiner J., and Brockmoller J. Clinical consequences of cytochrome P450 2C9 polymorphisms. Clin. Pharmacol. Ther. 77 (2005) 1-16
12. Li T., Chang C.Y., Jin D.Y., Lin P.J., Khvorova A., and Stafford D.W. Identification of the gene for vitamin K epoxide reductase. Nature 427 (2004) 541-544
13. Rost S., Fregin A., Ivaskevicius V., Conzelmann E., Hortnagel K., Pelz H.J., Lappegard K., Seifried E., Scharrer I., Tuddenham E.G., et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 427 (2004) 537-541
14. Harrington D.J., Underwood S., Morse C., Shearer M.J., Tuddenham E.G., and Mumford A.D. Pharmacodynamic resistance to warfarin associated with a Val66Met substitution in vitamin K epoxide reductase complex subunit 1. Thromb. Haemost. 93 (2005) 23-26
15. D'Ambrosio R.L., D'Andrea G., Cafolla A., Faillace F., and Margaglione M. A new vitamin K epoxide reductase complex subunit-1 (VKORC1) mutation in a patient with decreased stability of CYP2C9 enzyme. J. Thromb. Haemost. 5 (2007) 191-193
16. Bodin L., Horellou M.H., Flaujac C., Loriot M.A., and Samama M.M. A vitamin K epoxide reductase complex subunit-1 (VKORC1) mutation in a patient with vitamin K antagonist resistance. J. Thromb. Haemost. 3 (2005) 1533-1535
17. Loebstein R., Dvoskin I., Halkin H., Vecsler M., Lubetsky A., Rechavi G., Amariglio N., Cohen Y., Ken-Dror G., Almog S., et al. A coding VKORC1 Asp36Tyr polymorphism predisposes to warfarin resistance. Blood 109 (2007) 2477-2480
18. Scott S.A., Edelmann L., Kornreich R., Erazo M., and Desnick R.J. CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics 8 (2007) 721-730
19. Sim S.C., and Ingelman-Sundberg M. The human cytochrome P450 Allele Nomenclature Committee Web site: Submission criteria, procedures, and objectives. Methods Mol. Biol. 320 (2006) 183-191
20. Schwarz U.I. Clinical relevance of genetic polymorphisms in the human CYP2C9 gene. Eur. J. Clin. Invest. 33 Suppl 2 (2003) 23-30
21. Lee C.R., Goldstein J.A., and Pieper J.A. Cytochrome P450 2C9 polymorphisms: A comprehensive review of the in-vitro and human data. Pharmacogenetics 12 (2002) 251-263
22. Xie H.G., Prasad H.C., Kim R.B., and Stein C.M. CYP2C9 allelic variants: Ethnic distribution and functional significance. Adv. Drug Deliv. Rev. 54 (2002) 1257-1270
23. *3 alleles on acenocoumarol or phenprocoumon. Thromb. Haemost. 92 (2004) 61-66
24. Higashi M.K., Veenstra D.L., Kondo L.M., Wittkowsky A.K., Srinouanprachanh S.L., Farin F.M., and Rettie A.E. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. JAMA 287 (2002) 1690-1698
25. D'Andrea G., D'Ambrosio R.L., Di Perna P., Chetta M., Santacroce R., Brancaccio V., Grandone E., and Margaglione M. A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin. Blood 105 (2005) 645-649
26. Rieder M.J., Reiner A.P., Gage B.F., Nickerson D.A., Eby C.S., McLeod H.L., Blough D.K., Thummel K.E., Veenstra D.L., and Rettie A.E. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N. Engl. J. Med. 352 (2005) 2285-2293
27. Geisen C., Watzka M., Sittinger K., Steffens M., Daugela L., Seifried E., Muller C.R., Wienker T.F., and Oldenburg J. VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation. Thromb. Haemost. 94 (2005) 773-779
28. Osman A., Enstrom C., Arbring K., Soderkvist P., and Lindahl T.L. Main haplotypes and mutational analysis of vitamin K epoxide reductase (VKORC1) in a Swedish population: A retrospective analysis of case records. J. Thromb. Haemost. 4 (2006) 1723-1729
29. Gage B.F. Pharmacogenetics-based coumarin therapy. Hematology (Am Soc Hematol Educ Program) (2006) 467-473
30. Montes R., Ruiz de Gaona E., Martinez-Gonzalez M.A., Alberca I., and Hermida J. The c.-1639G→A polymorphism of the VKORC1 gene is a major determinant of the response to acenocoumarol in anticoagulated patients. Br. J. Haematol. 133 (2006) 183-187
31. Aquilante C.L., Langaee T.Y., Lopez L.M., Yarandi H.N., Tromberg J.S., Mohuczy D., Gaston K.L., Waddell C.D., Chirico M.J., and Johnson J.A. Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements. Clin. Pharmacol. Ther. 79 (2006) 291-302
32. Gan G.G., Teh A., Goh K.Y., Chong H.T., and Pang K.W. Racial background is a determinant factor in the maintenance dosage of warfarin. Int. J. Hematol. 78 (2003) 84-86
33. Goodstadt L., and Ponting C.P. Vitamin K epoxide reductase: Homology, active site and catalytic mechanism. Trends Biochem. Sci. 29 (2004) 289-292