CYP2C9 and VKORC1 genotypes in Puerto Ricans: A case for admixture-matching in clinical pharmacogenetic studies

Clinica Chimica Acta

Volumn 411, Issue 17-18, 2010, Pages 1306-1311

  Villagra, David ^a   Duconge, Jorge ^b   Windemuth, Andreas ^c   Cadilla, Carmen L ^d   Kocherla, Mohan ^a   Gorowski, Krystyna ^a   Bogaard, Kali ^a   Renta, Jessica Y ^d   Cruz, Irelys A ^e   Mirabal, Sara ^e   Seip, Richard L ^c   Ruaño, Gualberto ^c  

^a Genomas Inc   (United States)

^b UNIVERSITY OF PUERTO RICO   (Puerto Rico)

^c HARTFORD HOSPITAL   (United States)

^d UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

^e UNIVERSITY OF PUERTO RICO   (Puerto Rico)

Author keywords

Admixture matching; CYP2C9 genotypes; Pharmacogenetics; Puerto Ricans; VKORC1

Indexed keywords

CYTOCHROME P450 2C9; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) DEHYDROGENASE (QUINONE); UNCLASSIFIED DRUG; VITAMIN K EPOXIDE REDUCTASE COMPLEX 1; WARFARIN; ANTICOAGULANT AGENT; CYP2C9 PROTEIN, HUMAN; MIXED FUNCTION OXIDASE; UNSPECIFIC MONOOXYGENASE; VITAMIN K EPOXIDE REDUCTASE; VKORC1 PROTEIN, HUMAN;

ARTICLE; GENE CLUSTER; GENE FREQUENCY; GENETIC DISTANCE; GENETIC POLYMORPHISM; GENETIC SIMILARITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; PHARMACOGENETICS; POPULATION GENETICS; PRIORITY JOURNAL; PUERTO RICO; GENETICS;

ANTICOAGULANTS; ARYL HYDROCARBON HYDROXYLASES; GENOTYPE; HUMANS; MIXED FUNCTION OXYGENASES; PHARMACOGENETICS; PUERTO RICO; WARFARIN; CYTOCHROME P-450 CYP2C9; VITAMIN K EPOXIDE REDUCTASES;

EID: 77954212927     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.05.021     Document Type: Article

References (41)

1. Wadelius M., Chen L.Y., Downes K., et al. Common VKORC1 and GGCX polymorphisms associated with warfarin dose. Pharmacogenomics J 2005, 5(4):262-270.
2. Rost S., Fregin A., Ivaskevicius V., et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004, 427(6974):537-541.
3. Rieder M.J., Reiner A.P., Gage B.F., et al. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med 2005, 352(22):2285-2293.
4. Veenstra D.L., You J.H., Rieder M.J., 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(10):687-691.
5. Seip R.L., Duconge J., Ruano G. Implementing genotype-guided antithrombotic therapy. Future Cardiol 2010, 6:409-424.
6. Kaminsky L.S., Zhang Z.Y. Human P450 metabolism of warfarin. Pharmacol Ther 1997, 73:67-74.
7. Rettie A.E., Korzekwa K.R., Kunze K.L., et al. Hydroxylation of warfarin by human cDNA-expressed cytochrome P-450: a role for P-4502C9 in the etiology of (S)-warfarin-drug interactions. Chem Res Toxicol 1992, 5(1):54-59.
8. Reynolds K.K., Valdes R., Hartung B.R., Linder M.W. Individualizing warfarin therapy. Pers Med 2007, 4(1):11-31.
9. Goldstein J.A. Clinical relevance of genetic polymorphisms in the human CYP2C subfamily. Br J Clin Pharmacol 2001, 52:349-355.
10. Furuya H., Fernandez-Salguero P., Gregory W., et al. Genetic polymorphism of CYP2C9 and its effect on warfarin maintenance dose requirement in patients undergoing anticoagulation therapy. Pharmacogenetics 1995, 5(6):389-392.
11. Higashi M.K., Veenstra D.L., Kondo L.M., et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. JAMA 2002, 287:1690-1698.
12. Taube J., Halsall D., Baglin T. Influence of cytochrome P-450 CYP2C9 polymorphisms on warfarin sensitivity and risk of over-anticoagulation in patients on long-term treatment. Blood 2000, 96:1816-1819.
13. Wu A.H.B. Use of genetic and non-genetic factors in warfarin dosing algorithms. Pharmacogenomics 2007, 8(7):851-861.
14. Hillman M.A., Wilke R.A., Caldwell M.D., et al. Relative impact of covariates in prescribing warfarin according to CYP2C9 genotype. Pharmacogenetics 2004, 14:539-547.
15. Wu A.H.B., Wang P., Haller C., Drake K., Linder M., Valdes R. Dosing algorithm for warfarin using CYP2C9 and VKORC1 genotyping from a multi-ethnic population: comparison with other equations. Pharmacogenomics 2008, 9(2):169-178.
16. A haplotype map of the human genome. Nature 2005, 437:1299-1320. The International HapMap Consortium.
17. Takahashi H., Wilkinson G.R., Nutescu E.A., et al. Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance doses of warfarin in Japanese, Caucasians and African Americans. Pharmacogenet Genomics 2006, 16(2):101-110.
18. Tham L.S., Goh B.C., Nafziger A., et al. A warfarin-dosing model in Asians that uses single-nucleotide polymorphism in vitamin K epoxide reductase complex and cytochrome P450 2C9. Clin Pharmacol Ther 2006, 80(4):346-355.
19. Marsh S., King C.R., Porche-Sorbet R.M., Scott-Horton T.J., Eby C.S. Population variation in VKORC1 haplotype structure. J Thromb Haemost 2006, 4(2):473-474.
20. Suarez-Kurtz G., Pena S.D. Pharmacogenomics in the Americas: the impact of genetic admixture. Curr Drug Targets 2006, 7(12):1649-1658.
21. Ruaño G., Duconge J., Windemuth A., et al. Physiogenomic analysis of the Puerto Rican population. Pharmacogenomics 2009, 10(4):565-577.
22. Bertoni B., Budowle B., Sans M., Barton S.A., Chakraborty R. Admixture in Hispanics: distribution of ancestral population contributions in the Continental United States. Hum Biol 2003, 75:1-11.
23. Martinez-Cruzado J.C., Toro-Labrador G., Viera-Vera J., et al. Reconstructing the population history of Puerto Rico by means of mtDNA phylogeographic analysis. Am J Phys Anthropol 2005, 128:131-155.
24. Choudhry S., Coyle N.E., Tang H., et al. Population stratification confounds genetic association studies among Latinos. Hum Genet 2006, 118:652-664.
25. Gordon J., Merante F., Weiss S., Zastawny R. Pharmacogenetic P-450 screening using the Tag-It universal bead-based array platform. Pharmacogenomics and proteomics: enabling the practice of personalized medicine 2006, AAC Press, Washington, DC. S. Wong, M. Linder, R. Valdes (Eds.).
26. G. Ruaño, A. Windemuth, Physiogenomic method for predicting clinical outcomes of treatments in patients. 20060278241, USA patent, 2006.
27. Ruaño G., Windemuth A., Holford T. Physiogenomics: integrating systems engineering and nanotechnology for personalized medicine. The biomedical engineering handbook 2005, 281-289. CRC Press. J. Bronzino (Ed.).
28. Oliphant A., Barker D.L., Stuelpnagel J.R., Chee M.S. BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping. Biotechniques 2002, 56-8:60-61.
29. Pritchard J.K., Stephens M., Donnelly P. Inference of population structure using multi-locus genotype data. Genetics 2000, 155:945-959.
30. Falush D., Stephens M., Pritchard J.K. Inference of population structure using multi-locus genotype data: dominant markers and null alleles. Mol Ecol Notes 2007, 7:574-578.
31. The University of Chicago Department of Biological Sciences, Pritchard Lab. Accessed on July 2009. http://pritch.bsd.uchicago.edu.
32. Limdi N.A., McGwin G., Goldstein J.A., 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.
33. Jennings J. Across an arctic bridge. The world of the American Indian 1979, National Geographic Society, Washington, DC. J. Billard (Ed.).
34. Perini J.A., Petzl-Erler M.L., Tsuneto L.T., Suarez-Kurtz G. VKORC1 polymorphisms in Amerindian populations of Brazil. Pharmacogenomics 2008, 9:1623-1629.
35. Tishkoff S.A., Reed F.A., Friedlaender F.R., et al. The genetic structure and history of Africans and African Americans. Science 2009, 324:1035-1044.
36. The Trans-Atlantic Slave Trade Voyages Database. The national endowment for the humanities; Emory University Digital Library Research Initiative. Accessed on July 2009. http://www.slavevoyages.org/tast/database/search.faces.
37. Perini J.A., Struchiner C.J., Silva-Assuncao E., et al. Pharmacogenetics of warfarin: development of a dosing algorithm for Brazilian patients. Clin Pharmacol Ther 2008, 84:722-728.
38. Vargens D.D., Almendra L., Struchiner C.J., Suarez-Kurtz G. Distribution of the GNB3 825C>T polymorphism among Brazilians: impact of population structure. Eur J Clin Pharmacol 2008, 64:253-256.
39. Klein T.E., Altman R.B., Eriksson N., et al. Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med 2009, 360:753-764.
40. Thomas D.C., Witte J.S. Population stratification: a problem for case-control studies of candidate-gene associations?. Cancer Epidemiol Biomark Prev 2002, 11:505-512.
41. Suarez-Kurtz G. Ethnic differences in drug therapy: a pharmacogenomics perspective. Exp Rev Clin Pharmacol 2008, 1:337-339.