Pharmacogenetics: Genetic basis for rational drug therapy

Indian Journal of Pharmaceutical Sciences

Volumn 69, Issue 2, 2007, Pages 180-189

  Chauhan, Neelam ^a   Rani, Shubha ^a   Padh, H ^a  

^a B V PATEL PHARMACEUTICAL EDUCATION AND RESEARCH DEVELOPMENT PERD CENTRE   (India)

Author keywords

Cytochrome P450; Drugs; Genotype; Metabolism; Pharmacogenetics; Phenotype

Indexed keywords

ANGIOTENSIN 1 RECEPTOR ANTAGONIST; ASTEMIZOLE; BENOXAPROFEN; BETA 2 ADRENERGIC RECEPTOR STIMULATING AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BROMFENAC; CISAPRIDE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; ENCAINIDE; GREPAFLOXACIN; ISONIAZID; MEPHENYTOIN; METHYLPHENOBARBITAL; NONSTEROID ANTIINFLAMMATORY AGENT; OMEPRAZOLE; PHENYTOIN; PROTON PUMP INHIBITOR; ROFECOXIB; SEROTONIN UPTAKE INHIBITOR; SULFONAMIDE; SULFONYLUREA; TEMAFLOXACIN; TERFENADINE; THIAZIDE DIURETIC AGENT; TIENILIC ACID; TOLBUTAMIDE; TRICYCLIC ANTIDEPRESSANT AGENT; UNINDEXED DRUG; WARFARIN; ZOMEPIRAC;

ASTHMA; CARDIOVASCULAR RISK; DEPRESSION; DIABETES MELLITUS; DRUG DISPOSITION; DRUG EFFECT; DRUG MECHANISM; DRUG RESPONSE; DUODENUM ULCER; GENETIC DIFFERENCE; GENETIC VARIABILITY; GENOME; GENOTYPE PHENOTYPE CORRELATION; HEART ARRHYTHMIA; HEART DISEASE; HEART PROARRHYTHMIA; HEMOLYTIC UREMIC SYNDROME; HUMAN; HYPERTENSION; LIVER TOXICITY; PHARMACOGENETICS; PREDICTION AND FORECASTING; REVIEW; SIDE EFFECT; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 34347385861     PISSN: 0250474X     EISSN: None     Source Type: Journal    
DOI: 10.4103/0250-474x.33140     Document Type: Review

References (81)

1. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al. The sequence of the human genome. Science 2001;291:1304-51.
2. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.
3. Garrod AE. Inborn factors in disease: An assay. Oxford University Press: 1931.
4. Haldane JB. Disease and evolution. La Ricerca Scientifica 1949;19:68-75.
5. Williams RJ. Biochemical Individuality. John Wiley and Sons: New York; 1956.
6. Motulsky AG. Drug reactions, enzymes, and biochemical genetics. JAMA 1957;165:835-7.
7. Vogel F. Moderne probleme der humangenetik. Ergebnisse der inneren medizin und kinderheilkunde 1959;12:65-126.
8. Vesell ES. Twin studies in pharmacogenetics. Hum Genet 1978;1:19-30.
9. Motulsky A. Pharmacogenetics and ecogenetics to pharmacogenomics. Genetica e Biotechnologie nella Medicina. Available from: http://www.histmed.it/ ab-motulsky.htm.
10. Licinio J, Wong M. Pharmacogenomics: The search for individualized therapies. Wiley-VCH Verlag GmbH, Weinheim, Germany; 2002.
11. Kalow W. Pharmacogenetics. Heredity and the response to drugs. W.B. Saunders Company: Philadelphia, London; 1962.
12. Lehmann H, Ryan E. The familial incidence of low pseudocholinesterase level. Lancet 1956;271:124.
13. Kalow W, Staron N. On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers. Can J Med Sci 1957;35:1305-20.
14. Blum M, Demierre A, Grant DM, Heim M, Meyer UA. Molecular mechanism of slow acetylation in man. Proc Natl Acad Sci 1991;88:5237-41.
15. Hughes HB, Biehl JP, Jones AP, Schmidt LH. Metabolism of isoniazid in man as related to the occurrence of peripheral neuritis. Am Rev Tuberc 1954;70:266-73.
16. Weinstein JN. Pharmacogenomics - Teaching old drugs new tricks. N Engl J Med 2000;343:1408-9.
17. Linder MW, Prough RA, Valdes R. Pharmacogenetics: A laboratory tool for optimizing therapeutic efficiency. Clin Chem 1997;43:254-66.
18. Silber BM. Pharmacogenomics, biomarkers, and the promise of personalized medicine. In: Kalow W, Meyer U, editors. Pharmacogenomics. Marcel Dekker Publishers: New York; 2000.
19. Lazarou J, Pomeranz BH, Corey PN. Incidence of adverse drug reactions in hospitalized patients: A meta-analysis of prospective studies. JAMA 1998;279:1200-5.
20. US. Food and drug administration. Available from: http://www.fda.gov/ medwatch/safety/1998/duract3.htm.
21. US. Food and drug administration. Available from: http://www.fda.gov/ medwatch/safety/1998/propul.htm.
22. Rubinstein E, Camm J. Cardiotoxicity of fluoroquinolones. J Antimicrob Chemother 2002;49:593-6.
23. COX-2 selective and non-selective non-steroidal anti-inflammatory drugs (NSAIDs). Available from: http://www.fda.gov/cder/drug/infopage/cox2/default. htm.
24. Monahan BP, Ferguson CL, Cleave ES, Lloyd BK, Troy J, Cantilena LR. Torsade de pointes occurring in association with terfenadineuse. JAMA 1990;264:2788-90.
25. Rubinstein E. History of quinolones and their side effects. Chemotherapy 2001;47:3-8.
26. Griffin MR. The COX-2 report: The good, the bad, and the unknown. JCOM 2000;7:62-6.
27. Antiarrhythmics. Available from: http://www.aic.cuhk.edu.hk/web8/ antiarrhythmics.htm
28. Sachidanandam R, Weissman D, Schmidst SC, Kakol JM, Stein LD, Marth G, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001;409:928-33.
29. Meyer UA, Zanger UM. Molecular mechanisms of genetic polymorphisms of drug metabolism. Annu Rev Pharmacol Toxicol 1997;37:269-96.
30. Nebert DW. Polymorphisms in drug-metabolizing enzymes: What is their clinical relevance and why do they exists? Am J Hum Genet 1997;60:265-71.
31. Evans WE, Relling MV. Pharmacogenomics: Translating functional genomics into rational therapeutics. Science 1999;286:487-91.
32. Meyer UA. Pharmacogenetics and adverse drug reactions. Lancet 2000;356:1667-71.
33. Kuhlmann J. Alternative strategies in drug development: Clinical pharmacological aspects. Int J Clin Pharmacol Ther 1999;37:575-83.
34. Craig AM, Malek M. Market structure and conduct in the pharmaceutical industry. Pharmacol Ther 1995;66:301-37.
35. Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001;409:928-33.
36. Kruglyak L, Nickerson DA. Variation is spice of life. Nat Genet 2001;27:234-6.
37. Stoneking M. Single nucleotide polymorphisms: From the evolutionary past. Nature 2001;409:821-2.
38. Roses AD. Pharmacogenetics and the practice of medicine. Nature 2000;405:857-65.
39. The SNP Consortium Ltd. Single nucleotide polymorphism for biomedical research. Available from: http://snp.cshl.org.
40. Pfost DR, Boyce-Jacino MT, Grant DM. A SNPshot: Pharmacogenetics and the future of drug therapy. Trends Biotechnol 2000;18:334-8.
41. Ingelman-Sundberg M. Pharmacokinetics: An opportunity for a safer and more efficient pharmacotherapy. J Intern Med 2001;250:186-200.
42. Russell A, Wilke David MR, Jason HM. Combinatorial pharmacogenetics. Nat Rev Drug Discov 2005;4:911-8.
43. Gonzalez FJ, Skoda RC, Kimura S, Umeno M, Zangar UM, Nebert DW, et al. Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature 1988;331:442-6.
44. Human Cytochrome P450 (CYP) Allele Nomenclature Committee. Available from: http://www.imm.ki.se/CYPalleles.
45. Daly AK. Molecular basis of polymorphic drug metabolism. J Mol Med 1995;73:539-53.
46. Nelson DR, Koymans L, Kamataki T, Stegeman JJ, Feyereisen R, Waxman DJ, et al. P450 superfamily: Update on new sequences, gene mapping, accession numbers and nomenclature. Pharmacogenetics 1996;6:1-42.
47. Daly AK. Pharmacogenetics of the major polymorphic metabolizing enzymes. Fundam Clin Pharmacol 2003;17:27-41.
48. Shimada T, Yamazaki H, Mimura M, Inui Y, Guengerich FP. Interindividual variations in human liver cytochrome P-450 enzymes involved in the oxidation of drugs, carcinogens and toxic chemicals: Studies with liver microsomes of 30 Japanese and 30 Caucasians. J Pharm Exp Ther 1994;270:414-23.
49. Drug Interactions. Available from: http://medicine.iupui.edu/flockhart.
50. Ingelman-Sundberg M. Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): Clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics J 2005;5:6-13.
51. Rendic S, Di Carlo FJ. Human cytochrome P450 enzymes: A status report summarizing their reactions, substrates, inducers, and inhibitors. Drug Metab Rev 1997;29:413-580.
52. Lee CR, Goldstein JA, Pieper JA. Cytochrome P450 2C9 genetic polymorphisms: A comprehensive review of the in vitro and human data. Pharmacogenetics 2002;12:251-63.
53. 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;353:717-9.
54. Scordo MG, Aklillu E, Yasar U, Dahl ML, Spina E, Ingelman-Sundberg M. Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population. Br J Clin Pharmacol 2001;52:447-50.
55. 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;96:1816-9.
56. Higashi MK, Veenstra DL, Kondo LM, Wittkowsky AK, Srinouanprachanh SL, Farin FM, et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. JAMA 2002;287:1690-8.
57. Hillman MA, Wilke RA, Caldwell MD, Berg RL, Glurich I, Burmester JK. Relative impact of covariates in prescribing warfarin according to CYP2C9 genotype. Pharmacogenetics 2004;14:539-47.
58. Gage BF, Eby C, Milligan PE, Banet GA, Duncan JR, McLeod HL. Use of pharmacogenetics and clinical factors to predict the maintenance dose of warfarin. Thromb Haemost 2004;91:87-94.
59. Daly AK. Pharmacokinetics of the major polymorphic metabolizing enzymes. Fundam Clin Pharmacol 2003;17:27-41.
60. De Wildt SN, Kearns GL, Leeder JS, Van Den Anker JN. Cytochrome P450 3A: Ontogeny and drug disposition. Clin Pharmacokinet 1999;37:485-505.
61. Thummel KE, Shen DD, Podoll TD, Kunze KL, Trager WF, Hartwell PS, et al. Use of midazolam as a human cytochrome P450 3A probe. I. In vitro-in vivo correlations in liver transplant patients. J Pharmacol Exp Ther 1994;271:549-56.
62. Lindholm A, Henricsson S, Lind M, Dahlqvist R. Intraindividual variability in the relative systemic availability of cyclosporin after oral dosing. Eur J Clin Pharmacol 1988;34:461-4.
63. Rebbeck TR, Jaffe JM, Walker AH, Wein AJ, Malkowicz SB. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 1998;90:1225-9.
64. Sata F, Sapone A, Elizondo G, Stocker P, Miller VP, Zheng W, et al. CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: Evidence for an allelic variant with altered catalytic activity. Clin Pharmacol Ther 2000;67:48-56.
65. Ball SE, Scatina J, Kao J, Ferron GM, Fruncillo R, Mayer P, et al. Population distribution and effects on drug metabolism of a genetic variant in the 5′ promoter region of CYP3A4. Clin Pharmacol Ther 1999;66:288-94.
66. Westlind A, Löfberg L, Tindberg N, Andersson TB, Ingelman-Sundberg M. Interindividual differences in hepatic expression of CYP3A4: Relationship to genetic polymorphism in the 5′-upstream regulatory region. Biochem Biophys Res Commun 1999;259:201-5.
67. Van Schaik RH, De Wildt SN, Van Iperen NM, Uitterlinden AG, Van Den Anker JN, Lindemans J. CYP3A4-V polymorphism detection by PCR-restriction fragment length polymorphism analysis and its allelic frequency among 199 Dutch Caucasians. Clin Chem 2000;46:1834-6.
68. Furuta T, Ohashi K, Kamata T, Takashima M, Kosuge K, Kawasaki T, et al. Effect of genetic differences in omeprazole metabolism on cure rates for Helicobacter pylori infection and peptic ulcer. Ann Int Med 1998;129:1027-30.
69. Andersson T, Regardh CG, Dahl-Puustinen ML, Bertilsson L. Slow omeprazole metabolizers are also poor S-mephenytoin hydroxylators. The Drug Monit 1990;12:415-6.
70. Mackenzie PI, Owens IS, Burchell B, Bock KW, Bairoch A, Belanger A, et al. The UDP glycosyltransferase gene super-family: Recommended nomenclature update based on evolutionary divergence. Pharmacogenetics 1997;7:255-69.
71. Woosley RL, Drayer DE, Reidenberg MM, Nies AS, Carr K, Oates JA. Effect of acetylator phenotype on the rate at which procainamide induces antinuclear antibodies and the lupus syndrome. N Engl J Med 1978;298:1157-9.
72. Das KM, Eastwood MA, McManus JP, Sircus W. Adverse reactions during salicylazosulfapyridine therapy and the relation with drug metabolism and acetylator phenotype. N Engl J Med 1973;289:491-5.
73. 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.
74. Bertilsson L, Dahl ML, Tybring G. Pharmacogenetics of antidepressants: clinical aspects. Acta Psychiatr Scand 1997;96:14-21.
75. Fagerlund TH, Braaten O. No pain relief from codeine...? An introduction to pharmacogenomics. Acta Anaesthesiol Scand 2001;45:140-9.
76. Neil AT. Will genetics revolutionize public health? Genetics and public policy studies, Institute of genetic medicine. Available from: http://www.uni-bielefeld.de/ZIF/KG/2003PHG/Holtzman_Freitag.pdf
77. Gonzalez FJ, Skoda RC, Kimura S, Umeno M, Zanger UM, Nebert DW, et al. Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature 1988;331:442-6.
78. Kirchheiner J, Brosen K, Dahl ML, Gram LF, Kasper S, Roots I, et al. CYP2D6 and CYP2C19 genotype-based dose recommendations for antidepressants: A first step towards subpopulation-specific dosages. Acta Psychiatr Scand 2001;104:173-92.
79. Ingelman-Sundberg M, Oscarson M, McLellan RA. Polymorphic human cytochrome P450 enzymes: An opportunity for individualized drug treatment. Trends Pharmacol Sci 1999;20:342-9.
80. Shubha Rani, Padh H. Inter-individual variation in pharmacokinetics of proton pump inhibitors in healthy Indian males. Indian J Pharm Sci 2006;68:754-59.
81. Padh H. Human genome project and pharmacogenomics: leading towards individualized medication. Indian Drugs 2001;38:160-63.