Multiplex assay for comprehensive genotyping of genes involved in drug metabolism, excretion, and transport

Clinical Chemistry

Volumn 53, Issue 7, 2007, Pages 1222-1230

  Daly, Thomas M ^a   Dumaual, Carmen M ^a   Miao, Xin ^b   Farmen, Mark W ^a   Njau, Reuben K ^a   Fu, Dong Jing ^a,c   Bauer, Nancy L ^a   Close, Sandra ^a   Watanabe, Nancy ^b,d   Bruckner, Carsten ^b   Hardenbol, Paul ^b   Hockett, Richard D ^a  

^a ELI LILLY AND COMPANY   (United States)

^b Thermo Fisher Scientific   (United States)

^c JOHNSON AND JOHNSON PHARMACEUTICAL RESEARCH AND DEVELOPMENT   (United States)

^d GENENTECH INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; DNA;

ARTICLE; ASSAY; CONTROLLED STUDY; DRUG EXCRETION; DRUG METABOLISM; DRUG TRANSPORT; ENZYME ACTIVITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MULTIPLEX POLYMERASE CHAIN REACTION; PHARMACOGENETICS; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

BIOLOGICAL TRANSPORT; GENOTYPE; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OLIGONUCLEOTIDE PROBES; PHARMACEUTICAL PREPARATIONS; PHARMACOGENETICS; PLASMIDS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; VARIATION (GENETICS);

EID: 34347380733     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2007.086348     Document Type: Article

References (30)

1. Zhang L, Strong JM, Qiu W, Lesko U, Huang SM. Scientific perspectives on drug transporters and their role in drug interactions. Mol Pharmacol 2006;3:62-9.
2. Kim RB, Zamek-Gliszczynski MJ, Hoffmaster KA, Nezasa K, Tallman MN, Brouwer KL, et al. Transporters and drug discovery: why, when, and how. Mol Pharmacol 2006;3:26-32.
3. Lewis DF. 57 varieties: the human cytochromes P450. Pharmacogenomics 2004;5:305-18.
4. Zamek-Gliszczynski MJ, Hoffmaster KA, Nezasa K, Tallman MN, Brouwer KL, Weinshilboum R, et al. Integration of hepatic drug transporters and phase II metabolizing enzymes: mechanisms of hepatic excretion of sulfate, glucuronide, and glutathione metabolites. Eur J Pharm Sci 2006;27:447-86.
5. Weinshilboum R. Inheritance and drug response. N Engl J Med 2003;348:529-37.
6. Wilkinson GR. Drug metabolism and variability among patients in drug response. N Engl J Med 2005;352:2211-21.
7. Evans WE, McLeod HL. Pharmacogenomics: drug disposition, drug targets, and side effects. N Engl J Med 2003;348:538-49.
8. Dervieux T, Meshkin B, Neri B. Pharmacogenetic testing: proofs of principle and pharmacoeconomic implications. Mutat Res 2005; 573:180-94.
9. Xie HG, Kim RB, Wood AJ, Stein CM. Molecular basis of ethnic differences in drug disposition and response. Annu Rev Pharmacol Toxicol 2001;41:815-50.
10. Wedlund PJ. The CYP2C19 enzyme polymorphism. Pharmacology 2000;61:174-83.
11. Lewis DF. Human P450s in the metabolism of drugs: molecular modeling of enzyme-substrate interactions. Expert Opin Drug Metab Toxicol 2005;1:5-8.
12. Furuta T, Shirai N, Sugimoto M, Nakamura A, Hishida A, Ishizaki T. Influence of CYP2C19 pharmacogenetic polymorphism on proton pump inhibitor-based therapies. Drug Metab Pharmacokinet 2005;20:153-67.
13. Kirchheiner J, Henckel HB, Franke L, Meineke I, Tzvetkov M, Uebelhack R, et al. Impact of the CYP2D6 ultra-rapid metabolizer genotype on doxepin pharmacokinetics and serotonin in platelets. Pharmacogenet Genomics 2005;15:579-87.
14. Herman D, Locatelli I, Grabnar I, Peternel P, Stegnar M, Mrhar A, et al. Influence of CYP2C9 polymorphisms, demographic factors and concomitant drug therapy on warfarin metabolism and maintenance dose. Pharmacogenomics J 2005;5:193-202.
15. Johnson M, Markham-Abedi C, Susce MT, Murray-Carmichael E, McCollum S, de Leon J. A poor metabolizer for cytochromes P450 2D6 and 2C19: a case report on antidepressant treatment. CNS Spectr 2006;11:757-60.
16. Bonnet-Brilhault F, Broly F, Blanc R, Furet Y, Barthelemy C, Paintaud G. An ADHD 6-year-old child ultrarapid metabolizer for CYP2D6. J Clin Psychopharmacol 2006;26:442-4.
17. Relling MV, Hancock ML, Rivera GK, Sandlund JT, Ribeiro RC, Krynetski EY, et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst 1999;91:2001-8.
18. O'Dwyer PJ, Catalano RB. Uridine diphosphate glucuronosyltransferase (UGT) 1A1 and irinotecan: practical pharmacogenomics arrives in cancer therapy. J Clin Oncol 2006;24:4534-8.
19. Ando Y, Ueoka H, Sugiyama T, Ichiki M, Shimokata K, Hasegawa Y. Polymorphisms of UDP-glucuronosyltransferase and pharmacokinetics of irinotecan. Ther Drug Monit 2002;24:111-6.
20. Hardenbol P, Yu F, Belmont J, Mackenzie J, Bruckner C, Brundage T, et al. Highly multiplexed molecular inversion probe genotyping: over 10 000 targeted SNPs genotyped in a single tube assay. Genome Res 2005;15:269-75.
21. The International HapMap C. A haplotype map of the human genome. Nature 2005;437:1299.
22. Hardenbol P, Baner J, Jain M, Nilsson M, Namsaraev EA, Karlin-Neumann GA, et al. Multiplexed genotyping with sequence-tagged molecular inversion probes. Nat Biotechnol 2003;21:673-8.
23. US Food and Drug Administration. Table of valid genomic biomarkers in the context of approved drug labels. www.fda.gov/cder/genomics/ genomic_biomarkers_table.htm (accessed April 2007).
24. National Center for Biotechnology Information. dbSNP homepage. www.ncbi.nlm.nih.gov/projects/SNP (accessed February 2007).
25. European Bioinformatics Institute and Genome Research Limited. Ensembl. www.ensembl.org/index.html (accessed February 2007).
26. Human Cytochrome P450 (CYP) Allele Nomenclature Committee. www.cypalleles.ki.se (accessed February 2007).
27. Moorhead M, Hardenbol P, Siddiqui F, Falkowski M, Bruckner C, Ireland J, et al. Optimal genotype determination in highly multiplexed SNPdata. [Erratum in: Eur J Hum Genet 2006;14:976.] Eur J Hum Genet 2006;14:207-15.
28. Gaedigk A, Blum M, Gaedigk R, Eichelbaum M, Meyer UA. Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am J Hum Genet 1991;48:943-50.
29. Dahl ML, Johansson I, Bertilsson L, Ingelman-Sundberg M, Sjoqvist F. Ultrarapid hydroxylation of debrisoquine in a Swedish population: analysis of the molecular genetic basis. J Pharmacol Exp Ther 1995;274:516-20.
30. Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP- glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995;333:1171-5.