Pharmacogenetics - Five decades of therapeutic lessons from genetic diversity

Nature Reviews Genetics

Volumn 5, Issue 9, 2004, Pages 669-676

  Meyer, Urs A ^a  

^a UNIVERSITY OF BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARYLAMINE ACETYLTRANSFERASE; CYTOCHROME P450 2D6; DAPSONE; DEBRISOQUINE; HYDRALAZINE; ISONIAZID; NORTRIPTYLINE; PHENELZINE; PROCAINAMIDE;

ACETYLATOR PHENOTYPE; AUTOSOMAL RECESSIVE INHERITANCE; ENVIRONMENTAL FACTOR; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HISTORY; HUMAN; MEDLINE; PERIPHERAL NEUROPATHY; PHARMACOGENETICS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW;

HISTORY, 19TH CENTURY; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS; PHARMACOGENETICS; VARIATION (GENETICS);

EID: 4344574336     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/nrg1428     Document Type: Review

References (63)

1. Garrod, A. E. The incidence of alkaptonuria. A study in chemical individuality. Lancet, 1616-1620 (1902).
2. Garrod, A. E. The inborn errors of metabolism, (Oxford Univ. Press, London, UK, 1909).
3. Bateson, W. Mendel's principles of heredity: A defence, (Cambridge Univ. Press, Cambridge, UK, 1902).
4. Garrod, A. E. The inborn factors of disease (Oxford Univ. Press, London, UK, 1931).
5. Fox, A. L. The relationship between chemical constitution and taste. Proc. Natl Acad. Sci. USA 18, 115-120 (1932).
6. Snyder, L. H. Studies in human inheritance IX. The inheritance of taste deficiency in man. Ohio J. Sci. 32, 436-468 (1932).
7. Clayman, C. B. et al. Toxicity of primaquine in Caucasians. J. Am. Med. Assoc. 149, 1563-1568 (1952).
8. Carson, P. E., Flanagan, C. L., Ickes, C. E. & Alving, A. S. Enzymatic deficiency in primaquine-sensitive erythrocytes. Science 124, 484-485 (1956).
9. Luzatto, L., Mehta, A. & Vulliamy, M. Y. in The Metabolic and Molecular Basis of Inherited Diseases Vol. 3 (eds Scriver, C. R. et al.) 4517-4553 (McGraw-Hill Inc., New York, USA, 2001).
10. Lehmann, H. & Ryan, E. The familial incidence of low pseudocholinesterase level. Lancet 271, 124 (1956).
11. Kalow, W. & Staron, N. On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers. Can. J. Med. Sci. 35, 1305-1320 (1957).
12. Motulsky, A. Drug reactions, enzymes and biochemical genetics. JAMA 165, 835-837 (1957).
13. Vogel, F. Moderne Probleme der Humangenetik. Ergebn. Inn. Med. Kinderheilkd. 12, 52-125 (1959).
14. Kalow, W. Pharmacogenetics: heredity and the response to drugs (W. B. Saunders & Co., Philadelphia, USA, 1962).
15. Williams, R. J. Biochemical Individuality, (John Wiley & Sons, New York, USA, 1956).
16. Vesell, E. S. Twin studies in pharmacogenetics. Hum. Genet. 1, (Suppl.) 19-30 (1978).
17. Alexanderson, B., Evans, D. A. & Sjoqvist, F. Steady-state plasma levels of nortriptyline in twins: influence of genetic factors and drug therapy. Br. Med. J. 4, 764-768 (1969).
18. Price-Evans, D. A. in Clinical and Molecular Pharmacogenetics (Cambridge Univ. Press, Cambridge, UK, 1993).
19. Evans, W. E. & McLeod, H. L. Pharmacogenomics - drug disposition, drug targets, and side effects. N. Engl. J. Med. 348, 538-549 (2003).
20. Weber, W. W. Pharmacogenetics 334 (Oxford Univ. Press, Oxford, UK, 1997).
21. Kalow, W., Meyer, U. A. & Tyndale, R. F. Pharmacogenomics (Marcel Dekker, New York and Basel, 2001).
22. Brewer, G. J. Annotation: human ecology, an expanding role for the human geneticist. Am. J. Hum. Genet. 23, 92-94 (1971).
23. Sellers, E. M., Tyndale, R. F. & Fernandes, L. C. Decreasing smoking behaviour and risk through CYP2A6 inhibition. Drug Discov. Today 8, 487-493 (2003).
24. Meyer, U. A. & Zanger, U. M. Molecular mechanisms of genetic polymorphisms of drug metabolism. Annu. Rev. Pharmacol. Toxicol. 37, 269-296 (1997).
25. Zanger, U. M., Raimundo, S. & Eichelbaum, M. Cytochrome P450 206: overview and update on pharmacology, genetics, biochemistry. Naunyn Schmiedebergs Arch. Pharmacol. 369, 23-37 (2004).
26. Smith, R. L. Introduction: human genetic variations in oxidative drug metabolism. Xenobiotica 16, 361-365 (1986).
27. Mahgoub, A., Idle, J. R., Dring, L. G., Lancester, R. & Smith, R. L. Polymorphic hydroxylation of debrisoquine in man. Lancet 2, 584-586 (1977).
28. Eichelbaum, M., Spannbrucker, N., Steincke, B. & Dengler, H. J. Defective N-oxidation of sparteine in man: a new pharmacogenetic defect. Eur. J. Clin. Pharmacol. 16, 183-187 (1979).
29. Kahn, G. C., Boobis, A. R., Murray, S., Brodie, M. J. & Davies, D. S. Assay and characterisation of debrisoquine 4-hydroxylase activity of microsomal fractions of human liver. Br. J. Clin. Pharmacol. 13, 637-645 (1982).
30. Meier, P. J., Mueller, H. K., Dick, B. & Meyer, U. A. Hepatic monooxygenase activities in subjects with a genetic defect in drug oxidation. Gastroenterology 85, 682-692 (1983).
31. Distlerath, L. M. et al. Purification and characterization of the human liver cytochromes P-450 invoked in debrisoquine 4-hydroxylation and phenacetin O-deethylation, two prototypes for genetic polymorphism in oxidative drug metabolism. J. Biol. Chem. 260, 9057-9067 (1985).
32. Gut, J. et al. Debrisoquine-type polymorphism of drug oxidation: purification from human liver of a cytochrome P450 isozyme with high activity for bufuralol hydroxylation. FEBS Lett. 173, 287-290 (1984).
33. Zanger, U. M., Hauri, H. P., Loeper, J., Homberg, J. C. & Meyer, U. A. Antibodies against human cytochrome P-450db1 in autoimmune hepatitis type II. Proc. Natl Acad. Sci. USA 85, 8256-8260 (1988).
34. Gonzalez, F. J. et al. Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature 331, 442-446 (1988).
35. Skoda, R. C., Gonzalez, F. J., Demierre, A. & Meyer, U. A. Two mutant alleles of the human cytochrome P-450db1 gene (P450C2D1) associated with genetically deficient metabolism of debrisoquine and other drugs. Proc. Natl Acad. Sci. USA 85, 5240-5243 (1988).
36. Kagimoto, M., Heim, M., Kagimoto, K., Zeugin, T. & Meyer, U. A. Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes. J. Biol. Chem. 265, 17209-17214 (1990).
37. Gough, A. C. et al. Identification of the primary gene defect at the cytochrome P450 CYP2D locus. Nature 347, 773-776 (1990).
38. Heim, M. & Meyer, U. A. Genotyping of poor metabolisers of debrisoquine by allele-specific PCR amplification. Lancet 336, 529-532 (1990).
39. Bertilsson, L., Aberg-Wistedt, A. & Gustaffson, L. L. Extremely rapid hydroxylation of debrisoquine; a case report with implication for treatment with nortriptyline and other tricyclic antidepressants. Ther. Drug. Monit. 7, 478-480 (1985).
40. Johansson, I. et al. Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine. Proc. Natl Acad. Sci. USA 90, 11825-11829 (1993).
41. Bertilsson, L. et al. Molecular basis for rational megaprescribing in ultrarapid hydroxylators of debrisoquine. Lancet 341, 63 (1993).
42. Küpfer, A. & Preisig, R. Pharmacogenetics of mephenytoin: a new drug hydroxylation polymorphism in man. Eur. J. Clin. Pharmacol. 26, 753-759 (1984).
43. de Morais, S. M. F. et al. Identification of a new genetic defect responsible for the polymorphism of S-mephenytoin metabolism in Japanese. Mol. Pharmacol. 46, 594-598 (1994).
44. Sullivan-Klose, T. H. et al. The role of the CYP2C9-Leu359 allelic variant in the tolbutamide polymorphism. Pharmacogenetics 6, 341-349 (1996).
45. Weinshilboum, R. Inheritance and drug response. N. Engl. J. Med. 348, 529-537 (2003).
46. Goldstein, D. B., Tate, S. K. & Sisodiya, S. M. Pharmacogenetics goes genomic. Nature Rev. Genet. 4, 937-947 (2003).
47. Roden, D. M. & George, A. L. Jr. The genetic basis of variability in drug responses. Nature Rev. Drug Discov. 1, 37-44 (2002).
48. Lynch, T. J. et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350, 2129-2139 (2004).
49. Paez, J. G. et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304, 1497-1500 (2004).
50. Nebert, D. W., Jorge-Nebert, L. & Vesell, E. S. Pharmacogenomics and 'individualized drug therapy': high expectations and disappointing achievements. Am. J. Pharmacogenomics 3, 361-370 (2003).
51. Handschin, C. & Meyer, U. A. Induction of drug metabolism: the role of nuclear receptors. Pharmacol. Rev. 55, 649-673 (2003).
52. Chou, W. H. et al. Extension of a pilot study: impact from the cytochrome P450 2D6 polymorphism on outcome and costs associated with severe mental illness. J. Clin. Psychopharmacol. 20, 246-251 (2000).
53. Bönicke, R. & Reif, W. Enzymatische Inaktivierung von Isonicotinsäure hydrazide im menschlichen und tierischen Organismus. Arch. Exp. Pathol. Pharmakol. 220, 321-333 (1953).
54. Hughes, H. B., Biehl, J. P., Jones, A. P. & Schmidt, L. H. On the metabolic fate of isoniazid. J. Pharmacol. Exp. Therap. 109, 444-452 (1953).
55. Hughes, H. B., Biehl, J. P., Jones, A. P. & Schmidt, L. H. Metabolism of isoniazid in man as related to the occurrence of peripheral neuritis. Am. Rev. Tuberc. 70, 266-273 (1954).
56. Evans, D. A. P., Manley, F. A. & McKusick, V. A. Genetic control of isoniazid metabolism in man. Br. Med. J. 2, 485-491 (1960).
57. Blum, M., Demierre, A., Grant, D. M., Heim, M. & Meyer, U. A. Molecular mechanism of slow acetylation in man. Proc. Natl Acad. Sci. USA. 88, 5237-5241 (1991).
58. Vatsis, K. P., Martel, K. J. & Weber, W. W. Diverse point mutations in the human gene for polymorphic N-acetyltransferase. Proc. Natl Acad. Sci. USA 88, 6333-6337 (1991).
59. Meyer, U. A. Pharmacogenetics and adverse drug reactions. Lancet 356, 1667-1671 (2000).
60. Kirchheiner, J. et al. Individualized medicine - implementation of pharmacogenetic diagnostics in antidepressant drug treatment of major depressive disorders. Pharmacopsychiatry 36 (Suppl. 3), S235-S243 (2003).
61. Vatsis, K. P. et al. Nomenclature for N-acetyltransferases. Pharmacogenetics 5, 1-17 (1995).
62. Masood, E. A. A consortium plans free SNP map of human genome. Nature 398, 545-546 (1999).
63. Scriver, C. R. & Childs, B. (eds) Garrod's Inborn Factors Of Disease (Clarendon Press, Oxford, UK, 1989).