Pharmacogenetics of cytochrome P450 and its applications in drug therapy: The past, present and future

Trends in Pharmacological Sciences

Volumn 25, Issue 4, 2004, Pages 193-200

  Ingelman Sundberg, Magnus ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICOAGULANT AGENT; ANTIDEPRESSANT AGENT; ANTIEMETIC AGENT; ANTINEOPLASTIC AGENT; ANTIPARKINSON AGENT; ANTIULCER AGENT; CITALOPRAM; CYCLOPHOSPHAMIDE; CYTOCHROME P450; CYTOCHROME P450 2C19; CYTOCHROME P450 2D6; DRUG METABOLIZING ENZYME; IRBESARTAN; METOPROLOL; NEUROLEPTIC AGENT; NORTRIPTYLINE; OMEPRAZOLE; ONDANSETRON; PERPHENAZINE; PSYCHOTROPIC AGENT; SEROTONIN; SEROTONIN UPTAKE INHIBITOR; SERTRALINE; TAMOXIFEN; THIORIDAZINE; TRICYCLIC ANTIDEPRESSANT AGENT; TROPISETRON; UNINDEXED DRUG; VALPROIC ACID; WARFARIN;

BIPOLAR DISORDER; BLEEDING; BLOOD PRESSURE MEASUREMENT; CANCER; CARDIOVASCULAR DISEASE; DEPRESSION; DIZZINESS; DRUG EFFICACY; DRUG METABOLISM; DRUG RESPONSE; DRUG SAFETY; DRUG THERAPY; ENZYME ACTIVITY; EPILEPSY; GASTROINTESTINAL DISEASE; GENE THERAPY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; NAUSEA; PAIN; PARKINSONISM; PHARMACOGENETICS; PRIORITY JOURNAL; PROTEIN FUNCTION; PSYCHOSIS; REVIEW; SEDATION; ULCER;

CYTOCHROME P-450 ENZYME SYSTEM; GENOTYPE; HUMANS; PHARMACEUTICAL PREPARATIONS; PHARMACOGENETICS; POLYMORPHISM, GENETIC;

EID: 1942421701     PISSN: 01656147     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tips.2004.02.007     Document Type: Review

References (84)

1. Bertz R.J., Granneman G.R. Use of in vitro and in vivo data to estimate the likelihood of metabolic pharmacokinetic interactions. Clin. Pharmacokinet. 32:1997;210-258.
2. Evans W.E., Relling M.V. Pharmacogenomics: translating functional genomics into rational therapeutics. Science. 286:1999;487-491.
3. Phillips K.A., et al. Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review. J. Am. Med. Assoc. 286:2001;2270-2279.
4. Ingelman-Sundberg M. Pharmacogenetics: an opportunity for a safer and more efficient pharmacotherapy. J. Intern. Med. 250:2001;186-200.
5. Spear B.B., et al. Clinical application of pharmacogenetics. Trends Mol. Med. 7:2001;201-204.
6. Ingelman-Sundberg M. Human drug metabolising cytochrome P450 enzymes: properties and polymorphisms. Naunyn Schmiedebergs Arch. Pharmacol. 369:2004;89-104.
7. Weinshilboum R. Inheritance and drug response. New Engl. J. Med. 348:2003;529-537.
8. Nelson D.R., et al. Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes, and alternative-splice variants. Pharmacogenetics. 14:2004;1-18.
9. Van Schaik R.H.N., et al. CYP3A4, CYP3A5 and MDR-1 variant alleles in the Dutch Caucasian population. Clin. Pharmacol. Ther. 73:2003;42.
10. Fukushima-Uesaka H., et al. Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population. Hum. Mutat. 23:2004;100.
11. Ozdemir V., et al. Evaluation of the genetic component of variability in CYP3A4 activity: a repeated drug administration method. Pharmacogenetics. 10:2000;373-388.
12. Gorrod A.E., Oxon M.D. The incidence of alkaptonuria: a study in chemical individuality. Lancet. 1:1902;1616-1620.
13. Snyder L.H. Studies on human inheritance. IX. The inheritance of taste deficiency in man. Ohio J. Sci. 32:1932;436-438.
14. Motulsky A.G. Drug reactions, enzymes and biochemical genetics. J. Am. Med. Assoc. 165:1957;835-837.
15. Vogel F. Moderne probleme der humangenetik. Ergeb. Inn. Med. Kinderheilkd. 12:1959;52-125.
16. Hammer W., Sjoqvist F. Plasma levels of monomethylated tricyclic antidepressants during treatment with imipramine-like compounds. Life Sci. 6:1967;1895-1903.
17. Alexanderson B., et al. Steady-state plasma levels of nortriptyline in twins: influence of genetic factors and drug therapy. BMJ. 4:1969;764-768.
18. Smith R.L. The Paton Prize Award. The discovery of the debrisoquine hydroxylation polymorphism: scientific and clinical impact and consequences. Toxicology. 168:2001;11-19.
19. Mahgoub A., et al. Polymorphic hydroxylation of debrisoquine in man. Lancet. 2:1977;584-586.
20. Eichelbaum, M. (1975) Ein neuendecktr defect im arzneimittelstoffwechsel des menschen: Die fahlende N-oxydation des spartein, Habilitationsschrift, Bonn.
21. Eichelbaum, M. et al. (1978) A probably genetic defect in the metabolism of sparteine. In Biological Oxidation of Nitrogen (Gorrow, J.W., ed), pp. 113-118, Elsevier.
22. Eichelbaum M., et al. Influence of the defective metabolism of sparteine on its pharmacokinetics. Eur. J. Clin. Pharmacol. 16:1979;189-194.
23. Dayer P., et al. Defective hydroxylation of bufuralol associated with side-effects of the drug in poor metabolisers. Eur. J. Drug Metab. Pharmacokinet. 7:1982;73-77.
24. Zanger U.M., et al. Absence of hepatic cytochrome P450bufI causes genetically deficient debrisoquine oxidation in man. Biochemistry. 27:1988;5447-5454.
25. Gonzalez F.J., et al. Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature. 331:1988;442-446.
26. Heim M., Meyer U.A. Genotyping of poor metabolisers of debrisoquine by allele-specific PCR amplification. Lancet. 336:1990;529-532.
27. Gough A.C., et al. Identification of the primary gene defect at the cytochrome P450 CYP2D locus. Nature. 347:1990;773-776.
28. Lou Y.C., et al. Low frequency of slow debrisoquine hydroxylation in a native Chinese population. Lancet. 2:1987;852-853.
29. Yue Q.Y., et al. Disassociation between debrisoquine hydroxylation phenotype and genotype among Chinese. Lancet. 2:1989;870.
30. Johansson I., et al. Genetic analysis of the Chinese cytochrome P4502D locus: characterization of variant CYP2D6 genes present in subjects with diminished capacity for debrisoquine hydroxylation. Mol. Pharmacol. 46:1994;452-459.
31. Mura C., et al. Distinct phenotypes and genotypes of debrisoquine hydroxylation among Europeans and Chinese. Br. J. Clin. Pharmacol. 32:1991;135-136.
32. 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. U. S. A. 90:1993;11825-11829.
33. Bertilsson L., et al. Molecular basis for rational megaprescribing in ultrarapid hydroxylators of debrisoquine. Lancet. 341:1993;63.
34. Aklillu E., et al. Frequent distribution of ultrarapid metabolizers of debrisoquine in an Ethiopian population carrying duplicated and multiduplicated functional CYP2D6 alleles. J. Pharmacol. Exp. Ther. 278:1996;441-446.
35. Agundez J.A., et al. Genetic basis for differences in debrisoquin polymorphism between a Spanish and other white populations. Clin. Pharmacol. Ther. 55:1994;412-417.
36. Ingelman-Sundberg M., et al. Polymorphic human cytochrome P450 enzymes: an opportunity for individualized drug treatment. Trends Pharmacol. Sci. 20:1999;342-349.
37. Aklillu E., et al. Evidence for environmental influence on CYP2D6-catalysed debrisoquine hydroxylation as demonstrated by phenotyping and genotyping of Ethiopians living in Ethiopia or in Sweden. Pharmacogenetics. 12:2002;375-383.
38. Küpfer A., et al. Family study of a genetically determined deficiency of mephenytoin hydroxylation to p-hydroxymephenytoin in man. Pharmacologist. 21:1979;173.
39. Küpfer A., et al. Mephenytoin hydroxylation deficiency: kinetics after repeated doses. Clin. Pharmacol. Ther. 35:1984;33-39.
40. Umbenhauer D.R., et al. Cloning and sequence determination of a complementary DNA related to human liver microsomal cytochrome P-450 S-mephenytoin 4-hydroxylase. Biochemistry. 26:1987;1094-1099.
41. Relling M.V., et al. Tolbutamide and mephenytoin hydroxylation by human cytochrome P450s in the CYP2C subfamily. J. Pharmacol. Exp. Ther. 252:1990;442-447.
42. Veronese M.E., et al. Tolbutamide hydroxylation in humans: lack of bimodality in 106 healthy subjects. Pharmacogenetics. 3:1993;86-93.
43. Sullivan-Klose T.H., et al. The role of the CYP2C9-Leu359 allelic variant in the tolbutamide polymorphism. Pharmacogenetics. 6:1996;341-349.
44. Crespi C.L., Miller V.P. The R144C change in the CYP2C9*2 allele alters interaction of the cytochrome P450 with NADPH:cytochrome P450 oxidoreductase. Pharmacogenetics. 7:1997;203-210.
45. Wrighton S.A., et al. Isolation and characterization of human liver cytochrome P450 2C19: correlation between 2C19 and S-mephenytoin 4′-hydroxylation. Arch. Biochem. Biophys. 306:1993;240-245.
46. de Morais S.M., et al. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J. Biol. Chem. 269:1994;15419-15422.
47. De Morais S.M., et al. Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese. Mol. Pharmacol. 46:1994;594-598.
48. Yamano S., et al. cDNA and deduced amino acid sequences of human P450 IIA3 (CYP2A3). Nucleic Acids Res. 17:1989;4888.
49. Oscarson M. Genetic polymorphisms in the cytochrome P450 2A6 (CYP2A6) gene: implications for interindividual differences in nicotine metabolism. Drug Metab. Dispos. 29:2001;91-95.
50. Nunoya K., et al. A new deleted allele in the human cytochrome P450 2A6 (CYP2A6) gene found in individuals showing poor metabolic capacity to coumarin and (+)-cis-3,5-dimethyl-2-(3-pyridyl)thiazolidin-4-one hydrochloride (SM-12502). Pharmacogenetics. 8:1998;239-249.
51. Oscarson M., et al. Characterization and PCR-based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population. FEBS Lett. 448:1999;105-110.
52. Rao Y., et al. Duplications and defects in the CYP2A6 gene: identification, genotyping, and in vivo effects on smoking. Mol. Pharmacol. 58:2000;747-755.
53. Dalen P., et al. 10-Hydroxylation of nortriptyline in white persons with 0, 1, 2, 3, and 13 functional CYP2D6 genes. Clin. Pharmacol. Ther. 63:1998;444-452.
54. Kawanishi, C. et al. Increased incidence of CYP2D6 gene duplication in patients with persistent mood disorders: ultrarapid metabolism of antidepressants as a cause of nonresponse. A pilot study. Eur. J. Clin. Pharmacol. (in press).
55. Wang J.H., et al. Pharmacokinetics of sertraline in relation to genetic polymorphism of CYP2C19. Clin. Pharmacol. Ther. 70:2001;42-47.
56. Yu, B.N. et al. (2003) Pharmacokinetics of citalopram in relation to genetic polymorphism of CYP2C19. Drug Metab. Dispos. 31, 1255-1259.
57. Ho, P.C. et al. Influence of CYP2C9 genotypes on the formation of a hepatotoxic metabolite of valproic acid in human liver microsomes. Pharmacogenomics J. (in press).
58. 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. 20:2000;246-251.
59. Kirchheiner, J. et al. Pharmacogenetics of antidepressants and antipsychotics: The contribution of allelic variations to the phenotype of drug response. Mol. Psychiatry (in press).
60. Dahl M.L. Cytochrome P450 phenotyping/genotyping in patients receiving antipsychotics: useful aid to prescribing? Clin. Pharmacokinet. 41:2002;453-470.
61. Furuta T., et al. Effect of genetic differences in omeprazole metabolism on cure rates for Helicobacter pylori infection and peptic ulcer. Ann. Intern. Med. 129:1998;1027-1030.
62. Dickson E.J., Stuart R.C. Genetics of response to proton pump inhibitor therapy. Am. J. Pharmacogenomics. 3:2003;303-315.
63. Sagar M., et al. Omeprazole and CYP2C19 polymorphism: effects of long-term treatment on gastrin, pepsinogen I, and chromogranin A in patients with acid related disorders. Aliment. Pharmacol. Ther. 14:2000;1495-1502.
64. Desta Z., et al. Clinical significance of the cytochrome P450 2C19 genetic polymorphism. Clin. Pharmacokinet. 41:2002;913-958.
65. Stearns V., et al. Active tamoxifen metabolite plasma concentrations after coadministration of tamoxifen and the selective serotonin reuptake inhibitor paroxetine. J. Natl. Cancer Inst. 95:2003;1758-1764.
66. Xie H.J., et al. Role of polymorphic human CYP2B6 in cyclophosphamide bioactivation. Pharmacogenomics J. 3:2003;53-61.
67. Kaiser R., et al. Patient-tailored antiemetic treatment with 5-hydroxytryptamine type 3 receptor antagonists according to cytochrome P-450 2D6 genotypes. J. Clin. Oncol. 20:2002;2805-2811.
68. Daly A.K., King B.P. Pharmacogenetics of oral anticoagulants. Pharmacogenetics. 13:2003;247-252.
69. Takahashi H., Echizen H. Pharmacogenetics of CYP2C9 and interindividual variability in anticoagulant response to warfarin. Pharmacogenomics J. 3:2003;202-214.
70. Higashi M.K., et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. J. Am. Med. Assoc. 287:2002;1690-1698.
71. Hallberg P., et al. The CYP2C9 genotype predicts the blood pressure response to irbesartan: results from the Swedish Irbesartan left ventricular hypertrophy investigation vs Atenolol (SILVHIA) trial. J. Hypertens. 20:2002;2089-2093.
72. Wuttke H., et al. Increased frequency of cytochrome P450 2D6 poor metabolizers among patients with metoprolol-associated adverse effects. Clin. Pharmacol. Ther. 72:2002;429-437.
73. Sorensen L.B., et al. Polymorphic hydroxylation of perhexiline in vitro. Br. J. Clin. Pharmacol. 55:2003;635-638.
74. Barclay M.L., et al. Correlation of CYP2D6 genotype with perhexiline phenotypic metabolizer status. Pharmacogenetics. 13:2003;627-632.
75. Sindrup S.H., Brosen K. The pharmacogenetics of codeine hypoalgesia. Pharmacogenetics. 5:1995;335-346.
76. Sindrup S.H., et al. Tramadol relieves pain and allodynia in polyneuropathy: a randomised, double-blind, controlled trial. Pain. 83:1999;85-90.
77. Dalen P., et al. Quick onset of severe abdominal pain after codeine in an ultrarapid metabolizer of debrisoquine. Ther. Drug Monit. 19:1977;543-544.
78. de Leon J., et al. Adverse drug reactions to oxycodone and hydrocodone in CYP2D6 ultrarapid metabolizers. J. Clin. Psychopharmacol. 23:2003;420-421.
79. Lee C.R., et al. Cytochrome P450 2C9 polymorphisms: a comprehensive review of the in-vitro and human data. Pharmacogenetics. 12:2002;251-263.
80. Bracco L., Kearsey J. The relevance of alternative RNA splicing to pharmacogenomics. Trends Biotechnol. 21:2003;346-353.
81. Pirmohamed M., Park B.K. Cytochrome P450 enzyme polymorphisms and adverse drug reactions. Toxicology. 192:2003;23-32.
82. Guidance for Industry (2004) Pharmacogenomic Data Submission, draft guidance, November 2003 ( http://www.fda.gov/cber/gdlns/pharmdtasub.htm ; assessed January 2004).
83. Lesko L.J., et al. Pharmacogenetics and pharmacogenomics in drug development and regulatory decision making: report of the first FDA-PWG-PhRMA-DruSafe Workshop. J. Clin. Pharmacol. 43:2003;342-358.
84. Zanger U.M., et al. Comprehensive analysis of the genetic factors determining expression and function of hepatic CYP2D6. Pharmacogenetics. 11:2001;573-585.