Pharmacogenomics: The future of drug therapy

Clinical Genetics

Volumn 62, Issue 4, 2002, Pages 257-264

  Tsai, Y J ^a   Hoyme, H Eugene ^b  

^a ST JOSEPH MERCY HOSPITAL   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Bioinformatics; DNA chips; Drug metabolism; Human genome project; Pharmacogenetics; Pharmacogenomics; Pharmacology

Indexed keywords

AZATHIOPRINE; BETA 2 ADRENERGIC RECEPTOR; CAPTOPRIL; CHOLINESTERASE; CISAPRIDE; CLOZAPINE; CODEINE; CYTOCHROME P450 2C19; CYTOCHROME P450 2C9; CYTOCHROME P450 2D6; DISOPYRAMIDE; DRUG RECEPTOR; ENALAPRIL; GLUTATHIONE TRANSFERASE; HYDRALAZINE; ISONIAZID; MERCAPTOPURINE; OMEPRAZOLE; PENICILLAMINE; PROGUANIL; QUININE; SALBUTAMOL; SEROTONIN 2A RECEPTOR; SUXAMETHONIUM; TERFENADINE; THIOPURINE METHYLTRANSFERASE; TRICYCLIC ANTIDEPRESSANT AGENT; UNINDEXED DRUG; VENLAFAXINE; WARFARIN;

APNEA; BIOINFORMATICS; BLEEDING; CARDIOTOXICITY; CLINICAL MEDICINE; DNA MICROARRAY; DRUG ABSORPTION; DRUG EFFICACY; DRUG FATALITY; DRUG METABOLISM; DRUG RESPONSE; DRUG SENSITIVITY; DRUG SYNTHESIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEALTH CARE COST; HUMAN; HYPERTENSION; HYPOTENSION; LEUKOPENIA; LONG QT SYNDROME; LUPUS ERYTHEMATOSUS; MEDICAL DECISION MAKING; MEDICAL GENETICS; PATIENT CARE; PERIPHERAL NEUROPATHY; PHARMACOGENOMICS; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; SCHIZOPHRENIA; SHORT SURVEY; TORSADE DES POINTES;

COMPUTATIONAL BIOLOGY; DRUG DESIGN; DRUG THERAPY; GENOME, HUMAN; HUMANS; PHARMACOLOGY; POLYMORPHISM, GENETIC;

CINCHONA PUBESCENS;

EID: 0036821515     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620401.x     Document Type: Short Survey

References (81)

1. Rusnak JM, Kisabeth RM, Herbert DP, McNeil DM. Pharmacogenomics: a clinician's primer on emerging technologies for improved patient care. Mayo Clin Proc 2001: 76: 299-309.
2. Vesell ES, Page JG. Genetic control of drug levels in man: phenylbutazone. Science 1968: 159: 1479-1480.
3. Kalow W. Familial incidence of low pseudocholinesterase level. Lancet 1956: 2: 576-577.
4. Kalow W, Gunn DR. The relationship between dose of succinylcholine and duration of apnea in man. J Pharmacol Exp Ther 1957: 120: 203-214.
5. Kalow W, Genest K. A method for the detection of atypical forms of human serum cholinesterase: determination of dibucaine numbers. Can J Biochem Physiol 1957: 35: 339-346.
6. Kalow W, Staron N. On distribution and inheritance of atypical forms of human serum cholinesterase as indicated by dibucaine numbers. Can J Biochem Physiol 1957: 35: 1305-1320.
7. Lockridge O, Bartels CF, Vaughan TA, Wong CK, Norton SE, Johnson LL. Complete amino acid sequence of human serum cholinesterase. J Biol Chem 1987: 262: 549-557.
8. McGuire NC, Nogueira CP, Bartels CF et al. Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. Proc Natl Acad Sci U S A 1989: 86: 953-957.
9. Carson PE, Flanagan CL, Ickes CE, Alving AS. Enzymatic deficiency in primaqune sensitive erythrocytes. Science 1956: 124: 484.
10. Wolf CR, Smith G. Pharmacogenetics. Br Med Bull 1999: 55: 366-386.
11. Aithal GP, Day CP, Kesteven PJ, Daly AK. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet 1999: 353: 717-719.
12. Wolf CR, Smith G, Smith RL. Pharmacogenetics. Br Med J 2000: 320: 987-990.
13. Athanassiadis D, Cranston WI, Juel-Jensen BE, Oliver DO. Clinical observations on the effects of debrisoquine sulphate in patients with high blood pressure. Br Med J 1966: 2: 732-735.
14. Mahgoub A, Idle JR, Dring LG, Lancaster R, Smith RL. Polymorphic hydroxylation of debrisoquine in man. Lancet 1977: 2: 584-586.
15. Desmeules J, Gascon MP, Dayer P, Magistris M. Impact of environmental and genetic factors on codeine analgesia. Eur J Clin Pharmacol 1991: 41: 23.
16. Poulsen L, Arendt-Nielsen L, Brosen K, Sindrup SH, The hypoalgesic effect of tramadol in relation to CYP206. Clin Pharmacol Ther 1996: 60: 636-644.
17. Johansson I, Lundqvist E, Bertilsson L, Dahl M-L, Sjoqvist F, Ingelman-Sundberg M. Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquin. Proc Natl Acad Sci U S A 1993: 90: 11825-11829.
18. Bertilsson L, Dahl ML, Sjoqvist F et al. Molecular basis for rational mega-prescribing in ultrarapid hydroxylators of debrisoquin. Lancet 1993: 341: 363.
19. Furuta T, Ohashi K, Kamata T et al. Effect of genetic differences in omeprazole metabolism on cure rates for Helicobacter pylori infection and peptic ulcer. Ann Intern Med 1998: 129: 1027-1030.
20. Tanigawara Y, Aoyama N, Kita T et al. CYP2C19 genotype related efficacy of omeprazole for the treatment of infection caused by Helicobacter pylori. Clin Pharmacol Ther 1999: 66: 528-534.
21. Aoyama N, Tanigawara Y, Kita T et al. Sufficient effect of 1-week omeprazole and amoxicillin dual treatment for Helicobacter pylori eradication in cytochrome P450 2C19 poor metabolizers. J Gastroenterol 1999: 34 (Suppl 11): 80-83.
22. Furuta T, Ohashi K, Kobayashi K et al. Effects of clarithromycin on the metabolism of omeprazole in relation to CYP2C19 genotype status in humans. Clin Pharmacol Ther 1999: 66: 265-274.
23. Weber WW, Hein DW. N-acetylation pharmacogenetics. Pharmacol Rev 1985: 37: 25-79.
24. Lunde PK, Frislid K, Hansteen V. Disease and acetylation polymorphism. Clin Pharmacokinet 1977: 2: 182-197.
25. Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 1990: 336: 225-229.
26. Krynetski EY, Tai HL, Yates CR et al. Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics 1996: 6: 279-290.
27. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980: 32: 651-662.
28. Van Loon JA, Weinshilboum RM. Thiopurine methyltransferase biochemical genetics: human lymphocyte activity. Biochem Genet 1982: 20: 637-658.
29. Szumlanski CL, Honchel R, Scott MC, Weinshilboum RM. Human liver thiopurine methyltransferase pharmacogenetics: biochemical properties, liver erythrocyte correlation and presence of isozymes. Pharmacogenetics 1992: 2: 148-159.
30. Krynetski EY, Evans WE. Pharmacogenetics as a molecular basis for individualized drug therapy: the thiopurine S-methyltransferase paradigm. Pharm Res 1999: 16: 342-349.
31. Turki J, Pak J, Green SA, Martin RJ, Liggett SB. Genetic polymorphisms of the beta2 adrenergic receptor in nocturnal and nonnoctural asthma: evidence that Gly16 correlates with the nocturnal phenotype. J Clin Invest 1995: 95: 1635-1641.
32. Hall IP. Beta2 adrenoreceptor polymorphisms: are they clinically important? Thorax 1996: 51: 351-353.
33. Martinez FD, Graves PE, Baldini M, Solomon S, Erickson R. Association between genetic polymorphisms of the beta2-adrenoreceptor and response to albuterol in children with and without a history of wheezing. J Clin Invest 1997: 100: 3184-3188.
34. Tan S, Hall IP, Dewar J, Dow E, Lipworth B. Association between beta2-adrenoreceptor polymorphism and susceptibility to bronchodilator desensitization in moderately severe stable asthmatics. Lancet 1997: 350: 995-999.
35. Van der Kleij FG, Navis GJ, Gansevoort RT et al. ACE polymorphism does not determine short-term renal response to ACE-inhibition in proteinuric patients. Nephrol Dial Transplant 1997: 12 (Suppl 2): 42-46.
36. Haas M, Yilmaz N, Schmidt A et al. Angiotensin-converting enzyme gene polymorphism. determines the antiproteinuric and systemic hemodynamic effect of enalapril in patients with proteinuric renal disease. Austrian Study Group of the Effects of Enalapril Treatment in Proteinuric Renal Disease. Kidney Blood Press Res 1998: 21: 66-69.
37. Van der Kleij FG, Schmidt A, Navis GJ et al. Angiotensin converting enzyme insertion/deletion polymorphism and short-term renal response to ACE inhibition: role of sodium status. Kidney Int Suppl 1997: 63: S23.
38. Nakano Y, Oshima T, Watanabe M et al. Angiotensin I-converting enzyme gene polymorphism and acute response to captopril in essential hypertension. Am J Hypertens 1997: 10(9 Pt 1): 1064-1068.
39. O'Toole L, Stewert M, Padfield P, Channer K. Effect of the insertion/delition polymorphism of the angiotensin-converting enzyme gene on response to angiotensin-converting enzyme inhibitors in patients with heart failure. J Cardiovasc Pharmacol 1998: 32: 988-994.
40. Sasaki M, Oki T, Iuchi A et al. Relationship between the angiotensin converting enzyme gene polymorphism and the effects of enalapril on left ventricular hypertrophy and impaired diastolic filling in essential hypertension: M-mode and pulsed Doppler echocardiographic studies. J Hypertens 1996: 14: 1403-1408.
41. Mizuiri S, Hemmi H, Inoue A et al. Renal hemodynamic changes induced by captopril and angiotensin-converting enzyme gene polymorphism. Nephron 1997: 75: 310-314.
42. Yoshida H, Mitarai T, Kawamura T et al. Role of the deletion of polymorphism of the angiotensin converting enzyme gene in the progression and therapeutic responsiveness of IgA nephropathy. J Clin Invest 1995: 96: 2162-2169.
43. Henrion D, Amant C, Benessiano J et al. Angiotensin II type 1 receptor gene polymorphism is associated with an increased vascular reactivity in the human mammary artery in vitro. J Vasc Res 1998: 35: 356-362.
44. Benetos A, Cambien F, Gautier S et al. Influence of the angiotensin II type 1 receptor gene polymorphism on the effects of perindopril and nitrendipine on arterial stiffness in hypertensive individuals. Hypertension 1996: 28: 1081-1084.
45. Steen VM, Lovlie R, MacEwan T, McCreadie RG. Dopamine D3-receptor gene variant and susceptibility to tardive dyskinesia in schizophrenic patients. Mol Psychiatry 1997: 2: 139-145.
46. Chen CH, Wei FC, Koong FJ, Hsiao KJ. Association of TaqI A polymorphism of dopamine D2 receptor gene and tardive dyskinesia in schizophrenia. Biol Psychiatry 1997: 41: 827-829.
47. Gillard EF, Otsu K, Fujii J et al. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 1992: 13: 1247-1254.
48. Haseltine WA. Not quite pharmacogenomics. Nat Biotechnol 1998: 16: 1295.
49. Slamon DJ, Godolphin W, Jones LA et al. Studies of the HER-2/neu proto-oncogene in human breast and ovarian cancer. Science 1989: 244: 707-712.
50. Slamon DJ, Clark GM, Wong SG, Levin WJ, Ullrich A, McGuire WL. Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science 1987: 235: 177-182.
51. Baselga J, Tripathy D, Mendelsohn J et al. Phase II study of weekly intravenous trastuzumab in patients with HER2/neu overexpressing metastatic breast cancer. Semin Oncol 1999: 26 (4, Suppl 12): 78-83.
52. Shak S, Herceptin Multinational Investigator Study Group. Overview of the trastuzumab (Herceptin) anti HER2 monoclonal antibody clinical program in HER2-overexpressing metastatic breast cancer. Semin Oncol 1999: 26 (4, Suppl 12): 71-77.
53. Chou WH, Yan F-X, De Leon J et al. An extension of a pilot study: impact from the cytochrome P450-2D6 (CYP2D6) polymorphism on outcome and costs in severe mental illness. J Clin Psychopharmacol 2000: 20: 246-251.
54. Poirer J, Quirion R et al. A poliprotein E4 allele as a predictor of cholinergic deficits and treatment outcome of Alzheimer Disease. Proc Natl Acad Sci U S A 1995: 92: 12260.
55. Kuivenhoven JA, Jukema JW, Zwinderman AH et al. The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group. New Engl J Med 1998: 338: 86.
56. Miki Y, Swensen J, Shattuck-Eidens D et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994: 266: 266-271.
57. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE, Breast Cancer Linkage Consortium. Risks of cancer in BRCA1-mutation carriers. Lancet 1994: 343: 692-695.
58. Wooster W, Bignell G, Lancaster J et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995: 378: 789-792. [Correction appears in Nature 1996: 379: 749.]
59. Hollstein M, Sidransky D, Vogelstein B, Harris CC. P53 mutations in human cancers. Science 1991: 253: 49-53.
60. Lazarou J, Pomeranz BH, Corey PN. Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. J Am Med Assoc 1998: 279: 1200-1205.
61. Phillips KA, Veenstra DL, Oren E, Lee JK, Sadee W. Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review. J Am Med Assoc 2001: 286: 2270-2279.
62. Evans WE, Relling MV. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 1999: 286: 487-491.
63. Furuta T, Ohashi K, Kosuge K et al. CYP2C19 genotype status and effect of omeprazole on intragastric pH in humans. Clin Pharmacol Ther 1999: 65: 552-561.
64. Helsby NA, Ward SA, Howells RE, Breckenridge AM. In vitro metabolism of the biguanide antimalarials in human liver microsomes: evidence for a role of the mephenytoin hydroxylase (P450 MP) enzyme. Br J Clin Pharmacol 1990: 30: 287-291.
65. Ward SA, Helsby NA, Skjelbo E, Brosen K, Gram LF, Breckenridge AM. The activation of the biguanide antimalarial proguanil co-segregates with the mephenytoin oxidation polymorphism - a panel study. Br J Clin Pharmacol 1991: 31: 689-692.
66. Sindrup SH, Brosen K. The pharmacogenetics of codeine hypoalgesia. Pharmacogenetics 1995: 5: 335-346.
67. Lin KM, Poland RE, Wan YJ, Smith MW, Lesser IM. The evolving science of pharmacogenetics: clinical and ethnic perspectives. Psychopharmacol Bull 1996: 32: 205-217.
68. Balant-Gorgia AE, Balant LP, Garrone G. High blood concentrations of imipramine or clomipramine and therapeutic failure: a case report study using drug monitoring data. Ther Drug Monit 1989: 11: 415-420.
69. Bluhm RE, Wilkinson GR, Shelton R, Branch RA. Genetically determined drug-metabolizing activity and desipramine-associated cardiotoxicity: a case report. Clin Pharmacol Ther 1993: 53: 89-95.
70. Lessard E, Yessine MA, Hameline BA, O'Hara G, LeBlanc J, Turgeon J. Influence of CYP2D6 activity on the disposition and cardiovascular toxicity of the antidepressant agent venlafaxine in humans. Pharmacogenetics 1999: 9: 435-443.
71. Evans WE, Horner M, Chu YQ, Kalwinsky D, Roberts WM. Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. J Pediatr 1991: 119: 985-989.
72. McLeod HL, Miller DR, Evans WE. Azathioprine-induced myelosuppresion in thiopurine methyltransferase deficient heart transplant recipient. Lancet 1993: 341: 1151.
73. Perry HM Jr, Tan EM, Carmody S, Sakamoto A. Relationship of acetyl transferase activity to antinuclear antibodies and toxic symptoms in hypertensive patients treated with hydralazine. J Lab Clin Med 1970: 76: 114-125.
74. Layton MA, Kones PW, Alldersea JE et al. The therapeutic response to D-penicillamine in rheumatoid arthritis: influence of glutathione S-transferase polymorphisms. Rheumatology 1999: 38: 43-47.
75. Parving HH, Jacobsen P, Tarnow L et al. Effect of deletion polymorphism of angiotensin converting enzyme gene on progression of diabetic nephropathy during inhibition of angiotensin converting enzyme: observational follow up study. Br Med J 1996: 313: 591-594.
76. Penno G, Chatuvedi N, Talmud PJ et al. Effect of angiotensin-converting enzyme (ACE) gene polymorphism on progression of renal disease and the influence of ACE inhibition in IDDM patients: findings from the EUCLID Randomized Controlled Trial: EURODIAB Controlled Trial of Lisinopril in IDDM. Diabetes 1998: 47: 1507-1511.
77. Lima JJ, Thomason DB, Mohamed MH, Eberle LV, Self TH, Johnson JA. Impact of genetic polymorphisms of the beta2-adrenergic receptor on albuterol bronchodilator pharmacodynamics. Clin Pharmacol Ther 1999: 65: 519-525.
78. Arranz MJ, Collier DA, Munro J et al. Analysis of a structural polymorphism in the 5-HT2A receptor and clinical response to clozapine. Neurosci Lett 1996: 217: 177-178.
79. Priori SG, Barhanin J, Hauer RN et al. Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. Circulation 1999: 99: 674-681.
80. Donger C, Denjoy I, Berthet M et al. KVLQT1 C-terminal Missense mutation causes a forme fruste long-QT syndrome. Circulation 1997: 96: 2778-2781.
81. Abbott GW, Sesti F, Splawski I et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999: 97: 175-187.