Pharmacogenetics: improving drug and dose selection

Current Opinion in Pharmacology

Volumn 8, Issue 5, 2008, Pages 639-646

  Bhathena, Anahita ^a   Spear, Brian B ^a  

^a NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DEHYDROGENASE; ALDEHYDE DEHYDROGENASE; AMINE OXIDASE (FLAVIN CONTAINING); ARYLAMINE ACETYLTRANSFERASE; CAPECITABINE; CELECOXIB; CHOLINESTERASE; CYTOCHROME P450 2A6; CYTOCHROME P450 2B6; CYTOCHROME P450 2C19; CYTOCHROME P450 2C9; CYTOCHROME P450 2D6; CYTOCHROME P450 3A5; DIHYDROPYRIMIDINE DEHYDROGENASE; DNA; EFAVIRENZ; GLUCURONOSYLTRANSFERASE 1A1; IMIPRAMINE; IRINOTECAN; ISONIAZID; NELFINAVIR; OMEPRAZOLE; ORGANIC ANION TRANSPORTER 1; PHENYTOIN; RIFAMPICIN; TACROLIMUS; THIOPURINE METHYLTRANSFERASE; UNINDEXED DRUG; VORICONAZOLE; WARFARIN;

DNA SEQUENCE; DOSE RESPONSE; DRUG DISPOSITION; DRUG EFFICACY; DRUG INFORMATION; DRUG LABELING; DRUG SAFETY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN GENOME PROJECT; INDIVIDUALIZATION; MEDICAL DECISION MAKING; PHARMACOGENETICS; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT OUTCOME;

ANIMALS; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG THERAPY; HUMANS; PHARMACEUTICAL PREPARATIONS; PHARMACOGENETICS;

EID: 54849439068     PISSN: 14714892     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.coph.2008.07.013     Document Type: Review

References (54)

1. Feuk L., Carson A.R., and Scherer S.W. Structural variation in the human genome. Nat Rev Genet 7 (2006) 85-97
2. Kruglyak L., and Nickerson D.A. Variation is the spice of life. Nat Genet 27 (2001) 234-236
3. Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W., et al. Global variation in copy number in the human genome. Nature 444 (2006) 444-454. The authors constructed a CNV map of the human genome through study of four populations with different ancestry. This paper demonstrated the ubiquity of CNV and underscored its contribution to phenotypic variability.
4. Katz D.A., Murray B., Bhathena A., and Sahelijo L. Defining drug disposition determinants: a pharmacogenetic-pharmacokinetic strategy. Nat Rev Drug Discov 7 (2008) 293-305
5. Voora D., McLeod H.L., Eby C., and Gage B.F. The pharmacogenetics of coumarin therapy. Pharmacogenomics 6 (2005) 503-513
6. Gage B.F. Pharmacogenetics-based coumarin therapy. Hematol Am Soc Hematol Educ Program (2006) 467-473
7. Furuya H., Fernandez-Salguero P., Gregory W., Taber H., Steward A., Gonzalez F.J., and Idle J.R. Genetic polymorphism of CYP2C9 and its effect on warfarin maintenance dose requirement in patients undergoing anticoagulation therapy. Pharmacogenetics 5 (1995) 389-392
8. Aithal G.P., Day C.P., Kesteven P.J., and Daly A.K. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet 353 (1999) 717-719
9. 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
10. 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
11. 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
12. 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
13. 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
14. Yates C.R., Krynetski E.Y., Loennechen T., Fessing M.Y., Tai H.L., Pui C.H., Relling M.V., and Evans W.E. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 126 (1997) 608-614
15. Otterness D., Szumlanski C., Lennard L., Klemetsdal B., Aarbakke J., Park-Hah J.O., Iven H., Schmiegelow K., Branum E., O'Brien J., et al. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin Pharmacol Ther 62 (1997) 60-73
16. Evans W.E., Horner M., Chu Y.Q., Kalwinsky D., and Roberts W.M. Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. J Pediatr 119 (1991) 985-989
17. Evans W.E., Hon Y.Y., Bomgaars L., Coutre S., Holdsworth M., Janco R., Kalwinsky D., Keller F., Khatib Z., Margolin J., et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J Clin Oncol 19 (2001) 2293-2301
18. Black A.J., McLeod H.L., Capell H.A., Powrie R.H., Matowe L.K., Pritchard S.C., Collie-Duguid E.S., and Reid D.M. Thiopurine methyltransferase genotype predicts therapy-limiting severe toxicity from azathioprine. Ann Intern Med 129 (1998) 716-718
19. Ando Y., Saka H., Ando M., Sawa T., Muro K., Ueoka H., Yokoyama A., Saitoh S., Shimokata K., and Hasegawa Y. Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis. Cancer Res 60 (2000) 6921-6926
20. Innocenti F., Undevia S.D., Iyer L., Chen P.X., Das S., Kocherginsky M., Karrison T., Janisch L., Ramirez J., Rudin C.M., et al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol 22 (2004) 1382-1388
21. Kris M.G., Natale R.B., Herbst R.S., Lynch Jr. T.J., Prager D., Belani C.P., Schiller J.H., Kelly K., Spiridonidis H., Sandler A., et al. Efficacy of gefitinib, an inhibitor of the epidermal growth factor receptor tyrosine kinase, in symptomatic patients with non-small cell lung cancer: a randomized trial. JAMA 290 (2003) 2149-2158
22. Fukuoka M., Yano S., Giaccone G., Tamura T., Nakagawa K., Douillard J.Y., Nishiwaki Y., Vansteenkiste J., Kudoh S., Rischin D., et al. Multi-institutional randomized phase II trial of gefitinib for previously treated patients with advanced non-small-cell lung cancer (The IDEAL 1 Trial) [corrected]. J Clin Oncol 21 (2003) 2237-2246
23. •], this paper identifies and associates somatic mutations in EGFR with response to EGFR inhibitors.
24. •].
25. •].
26. Tsao M.S., Sakurada A., Cutz J.C., Zhu C.Q., Kamel-Reid S., Squire J., Lorimer I., Zhang T., Liu N., Daneshmand M., et al. Erlotinib in lung cancer - molecular and clinical predictors of outcome. N Engl J Med 353 (2005) 133-144
27. Hirsch F.R., Varella-Garcia M., McCoy J., West H., Xavier A.C., Gumerlock P., Bunn Jr. P.A., Franklin W.A., Crowley J., and Gandara D.R. Increased epidermal growth factor receptor gene copy number detected by fluorescence in situ hybridization associates with increased sensitivity to gefitinib in patients with bronchioloalveolar carcinoma subtypes: a Southwest Oncology Group Study. J Clin Oncol 23 (2005) 6838-6845
28. Hirsch F.R., Varella-Garcia M., Bunn Jr. P.A., Franklin W.A., Dziadziuszko R., Thatcher N., Chang A., Parikh P., Pereira J.R., Ciuleanu T., et al. Molecular predictors of outcome with gefitinib in a phase III placebo-controlled study in advanced non-small-cell lung cancer. J Clin Oncol 24 (2006) 5034-5042
29. Cappuzzo F., Hirsch F.R., Rossi E., Bartolini S., Ceresoli G.L., Bemis L., Haney J., Witta S., Danenberg K., Domenichini I., et al. Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J Natl Cancer Inst 97 (2005) 643-655
30. Pao W., Miller V.A., Politi K.A., Riely G.J., Somwar R., Zakowski M.F., Kris M.G., and Varmus H. Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. PLoS Med 2 (2005) e73
31. Kosaka T., Yatabe Y., Endoh H., Yoshida K., Hida T., Tsuboi M., Tada H., Kuwano H., and Mitsudomi T. Analysis of epidermal growth factor receptor gene mutation in patients with non-small cell lung cancer and acquired resistance to gefitinib. Clin Cancer Res 12 (2006) 5764-5769
32. Pao W., Wang T.Y., Riely G.J., Miller V.A., Pan Q., Ladanyi M., Zakowski M.F., Heelan R.T., Kris M.G., and Varmus H.E. KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. PLoS Med 2 (2005) e17
33. van Zandwijk N., Mathy A., Boerrigter L., Ruijter H., Tielen I., de Jong D., Baas P., Burgers S., and Nederlof P. EGFR and KRAS mutations as criteria for treatment with tyrosine kinase inhibitors: retro- and prospective observations in non-small-cell lung cancer. Ann Oncol 18 (2007) 99-103
34. Massarelli E., Varella-Garcia M., Tang X., Xavier A.C., Ozburn N.C., Liu D.D., Bekele B.N., Herbst R.S., and Wistuba I.I. KRAS mutation is an important predictor of resistance to therapy with epidermal growth factor receptor tyrosine kinase inhibitors in non-small-cell lung cancer. Clin Cancer Res 13 (2007) 2890-2896
35. Amado R.G., Wolf M., Peeters M., Van Cutsem E., Siena S., Freeman D.J., Juan T., Sikorski R., Suggs S., Radinsky R., et al. Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. J Clin Oncol 26 (2008) 1626-1634
36. Lievre A., Bachet J.B., Boige V., Cayre A., Le Corre D., Buc E., Ychou M., Bouche O., Landi B., Louvet C., et al. KRAS mutations as an independent prognostic factor in patients with advanced colorectal cancer treated with cetuximab. J Clin Oncol 26 (2008) 374-379
37. Lievre A., Bachet J.B., Le Corre D., Boige V., Landi B., Emile J.F., Cote J.F., Tomasic G., Penna C., Ducreux M., et al. KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res 66 (2006) 3992-3995
38. Thomas R.K., Nickerson E., Simons J.F., Janne P.A., Tengs T., Yuza Y., Garraway L.A., LaFramboise T., Lee J.C., Shah K., et al. Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing. Nat Med 12 (2006) 852-855
39. Dahl F., Stenberg J., Fredriksson S., Welch K., Zhang M., Nilsson M., Bicknell D., Bodmer W.F., Davis R.W., and Ji H. Multigene amplification and massively parallel sequencing for cancer mutation discovery. Proc Natl Acad Sci U S A 104 (2007) 9387-9392
40. Johnson M.D., Zuo H., Lee K.H., Trebley J.P., Rae J.M., Weatherman R.V., Desta Z., Flockhart D.A., and Skaar T.C. Pharmacological characterization of 4-hydroxy-N-desmethyl tamoxifen, a novel active metabolite of tamoxifen. Breast Cancer Res Treat 85 (2004) 151-159
41. Stearns V., Johnson M.D., Rae J.M., Morocho A., Novielli A., Bhargava P., Hayes D.F., Desta Z., and Flockhart D.A. Active tamoxifen metabolite plasma concentrations after coadministration of tamoxifen and the selective serotonin reuptake inhibitor paroxetine. J Natl Cancer Inst 95 (2003) 1758-1764
42. Borges S., Desta Z., Li L., Skaar T.C., Ward B.A., Nguyen A., Jin Y., Storniolo A.M., Nikoloff D.M., Wu L., et al. Quantitative effect of CYP2D6 genotype and inhibitors on tamoxifen metabolism: implication for optimization of breast cancer treatment. Clin Pharmacol Ther 80 (2006) 61-74
43. Goetz M.P., Rae J.M., Suman V.J., Safgren S.L., Ames M.M., Visscher D.W., Reynolds C., Couch F.J., Lingle W.L., Flockhart D.A., et al. Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J Clin Oncol 23 (2005) 9312-9318
44. Schroth W., Antoniadou L., Fritz P., Schwab M., Muerdter T., Zanger U.M., Simon W., Eichelbaum M., and Brauch H. Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes. J Clin Oncol 25 (2007) 5187-5193
45. Liggett S.B., Mialet-Perez J., Thaneemit-Chen S., Weber S.A., Greene S.M., Hodne D., Nelson B., Morrison J., Domanski M.J., Wagoner L.E., et al. A polymorphism within a conserved beta(1)-adrenergic receptor motif alters cardiac function and beta-blocker response in human heart failure. Proc Natl Acad Sci U S A 103 (2006) 11288-11293
46. Hetherington S., McGuirk S., Powell G., Cutrell A., Naderer O., Spreen B., Lafon S., Pearce G., and Steel H. Hypersensitivity reactions during therapy with the nucleoside reverse transcriptase inhibitor abacavir. Clin Ther 23 (2001) 1603-1614
47. •], this study identified the association between HLA-B*5701 and hypersensitivity reaction to abacavir.
48. •].
49. Phillips E.J., Wong G.A., Kaul R., Shahabi K., Nolan D.A., Knowles S.R., Martin A.M., Mallal S.A., and Shear N.H. Clinical and immunogenetic correlates of abacavir hypersensitivity. AIDS 19 (2005) 979-981
50. Martin A.M., Nolan D., Gaudieri S., Almeida C.A., Nolan R., James I., Carvalho F., Phillips E., Christiansen F.T., Purcell A.W., et al. Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant. Proc Natl Acad Sci U S A 101 (2004) 4180-4185
51. Hughes A.R., Mosteller M., Bansal A.T., Davies K., Haneline S.A., Lai E.H., Nangle K., Scott T., Spreen W.R., Warren L.L., et al. Association of genetic variations in HLA-B region with hypersensitivity to abacavir in some, but not all, populations. Pharmacogenomics 5 (2004) 203-211
52. Mallal S., Phillips E., Carosi G., Molina J.M., Workman C., Tomazic J., Jagel-Guedes E., Rugina S., Kozyrev O., Cid J.F., et al. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med 358 (2008) 568-579. The authors report on a prospective, randomized, double-blind clinical trial demonstrating the clinical utility of prospective genotyping to reduce the incidence of an adverse event. Lack of data from prospective trials is often cited as one of the causes for the low clinical uptake of genotyping information.
53. Hughes D.A., Vilar F.J., Ward C.C., Alfirevic A., Park B.K., and Pirmohamed M. Cost-effectiveness analysis of HLA B*5701 genotyping in preventing abacavir hypersensitivity. Pharmacogenetics 14 (2004) 335-342
54. Panel on Antiretroviral Guidelines for Adults and Adolescents: Guidelines for the Use of Antiretroviral Agents in HIV-1 Infected Adults and Adolescents. Department of Health and Human Services; January 29, 2008, 1-128. Available at http://www.aidsinfo.nih.gov/ContentFiles/AdultandAdolescentGL.pdf. Accessed August 2008.