Cytochrome P450 3A: Genetic polymorphisms and interethnic differences

Methods and Findings in Experimental and Clinical Pharmacology

Volumn 27, Issue 8, 2005, Pages 559-567

  Krishna, Devarakonda R ^a   Shekar, M S ^a  

^a KAKATIYA UNIVERSITY   (India)

Author keywords

CYP3A; Ethic variability; Genetic polymorphism

Indexed keywords

ADINAZOLAM; CERIVASTATIN; CLOMIPRAMINE; CYCLOSPORIN A; CYTOCHROME P450 3A; CYTOCHROME P450 3A4; CYTOCHROME P450 3A5; CYTOCHROME P450 3A7; DIAZEPAM; DRUG METABOLIZING ENZYME; ERYTHROMYCIN; ISOENZYME; MIDAZOLAM; NIFEDIPINE; RAPAMYCIN; REBOXETINE; REPAGLINIDE; TACROLIMUS; TRIAZOLAM;

BIOTRANSFORMATION; DRUG BIOAVAILABILITY; DRUG CLEARANCE; DRUG METABOLISM; DRUG RESPONSE; ENZYME ACTIVITY; ETHNIC DIFFERENCE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; OXIDATION; PRESCRIPTION; REVIEW;

CYTOCHROME P-450 CYP3A; HUMANS; INDIA; METABOLIC DETOXICATION, DRUG; POLYMORPHISM, GENETIC;

EID: 28444454036     PISSN: 03790355     EISSN: None     Source Type: Journal    
DOI: 10.1358/mf.2005.27.8.928310     Document Type: Review

References (104)

1. Editorial. Census, race and science. Nat Genet 2000, 24: 97-8.
2. Kalow, W. Interethnic variation of drug metabolism. Trends Pharmacol Sci 1991, 12: 102-7.
3. Wood, A.J., Zhou, H.H. Ethnic differences in drug disposition and responsiveness. Clin Pharmacokinet 1991, 20: 350-73.
4. Kalow, W. Ethnic differences in drug metabolism. Clin Pharmacokinet 1982, 7: 373-400.
5. Lewis, P., Rack, P.H., Vaddadi, K.S., Allen, J.J. Ethnic differences in drug response. Postgrad Med J 1980, 56: 46-9.
6. Kalow, W., Bertilsson, L. Interethnic factors affecting drug response. Adv Drug Res 1994, 25: 1-59.
7. Bertilsson, L. Geographical/interracial differences in polymorphic drug oxidation: Current state of knowledge of cytochromes P450 (CYP) 2D6 and 2C19. Clin Pharmacokinet 1995, 29: 192-209.
8. Smith, M.W., Mendoza, R.P. Ethnicity and pharmacogenetics. Mt Sinai J Med 1996, 63: 285-90.
9. Weber, W.W. Pharmacogenetics. Oxford University Press: Oxford 1997.
10. Wood, A.J.J. Ethnic differences in drug disposition and response. Ther Drug Monit 1998, 20: 525-6.
11. Gaedigk, A. Interethnic differences of drug-metabolizing enzymes. Int J Clin Pharmacol Ther 2000, 38: 61-8.
12. Davidson, M.H., Stein, E.A., Dujovne, C.A. et al. The efficacy and six-week tolerability of simvastatin 80 and 160 mg/day. Am J Cardiol 1997, 79: 38-42.
13. Cohen, J. Developing prescriptions with a personal touch. Science 1997, 275: 776.
14. Persidis, A. The business of pharmacogenomics. Nat Biotechnol 1998, 16: 209-10.
15. Sadee, W. Pharmacogenomics. Br Med J 1999, 319: 1286.
16. Evans, W.E., Relling, M.V. Pharmacogenomics: Translating functional genomics into rational therapeutics. Science 1999, 286: 487-91.
17. Johnson, J.A. Drug target pharmacogenomics. Am J Pharmacogenomics 2001, 1: 271-81.
18. Anderson, K.E., Conney, A.H., Kappas, A. Nutrition as an environmental influence on chemical metabolism in man. In: Ethnic Differences in Reactions to Drugs and Xenobiotics. Kalow, W., Goedda, H.W., Agarwal, D.P. (Eds.). Alan R. Liss: New York 1986, 39-54.
19. Richardson, A.D., Piepho, R.W. Effect of race on hypertension and antihypertensive therapy. Int J Clin Pharmacol Ther 2000, 38: 75-9.
20. Lefley, H.P. Culture and chronic mental illness. Hosp Community Psychiatry 1990, 41: 277-86.
21. Meyer, V.A. Genotype or phenotype: The definition of a pharmacogenetic polymorphism. Pharmacogenetics 1991, 1: 66-7.
22. Goldstein, J.A., Ishizaki, T., Chiba, K. et al. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacogenetics 1997, 7: 59-64.
23. Nakamura, K., Goto, F., Ray, W.A. et al. Interethnic differences in genetic polymorphism of debriosoquin and mephenytoin hydroxylation between Japanese and Caucasian populations. Clin Pharmacol Ther 1985, 38: 402-8.
24. Ward, S.A., Goto, F., Nakamura, K., Jacqz, E., Wilkinson, G.R., Branch, R.A. S-mephenytoin 4-hydroxylase is inherited as an autosomal recessive trait in Japanese families. Clin Pharmacol Ther 1987, 42: 96-9.
25. Masimirembwa, C., Bertilsson, L., Johnansson, I., Hasler, J.A., Ingelman-Sundberg, M. Phenotyping and genotyping of S-mephenytoin hydroxylase (cytochrome P450 2C19) in a Shona population of Zimbabwe. Clin Pharmacol Ther 1995, 57: 656-61.
26. Ingelman-Sundberg, M., Oscarson, M., Daly, A.K., Garte, S., Nebert, D.W. Human cytochrome P-450 (CYP) genes: A web page for the nomenclature of alleles. Cancer Epidemiol Biomarkers Prev 2001, 10: 1307-8.
27. Idle, J.R., Corchero, J., Gonzalez, F.J. Medical implications of HGP's sequence of chromosome 22. Lancet 2000, 355: 319.
28. Wang, S.L., Huang, J.D., Lai, M.D., Liu, B.H., Lai, M.L. Molecular basis of genetic variation in debriosoquin hydroxylation in Chinese subjects: Polymorphism in RFLP and DNA sequence of CYP2D6. Clin Pharmacol Ther 1993, 53: 410-8.
29. Dahl, M.-L., Yue, Q.-Y., Roh, H.-K. et al. Genetic analysis of the CYP2D6 locus in relation to debrisoquine hydroxylation capacity in Korean, Japanese and Chinese subjects. Pharmacogenetics 1995, 5: 159-64.
30. Roh, H.-K., Dahl, M.-L., Johansson, I., Ingelman-Sundberg, M., Cha, Y.-M., Bertilsson, L. Debrisoquine and S-mepheneytoin hydroxylation phenotypes and genotypes in a Korean population. Pharmacogenetics 1996, 6: 441-7.
31. Shimada, T., Yamazaki, H., Mimura, M., Inui, Y., Guengerich, F.P. 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 Pharmacol Exp Ther 1994, 270: 414-23.
32. Hashimoto, H., Toide, K., Kitamura, R. et al. Gene structure of CYP3A4, an adult-specific form of cytochrome P450 in human livers, and its transcription control. Eur J Biochem 1993, 218: 585-95.
33. Gellner, K., Eiselt, R., Hustert, E. et al. Genomic organization of the human CYP3A locus: Identification of a new inducible CYP3A gene. Pharmacogenetics 2001, 11: 111-21.
34. Finta, C., Zaphiropoulos, P.G. The human cytochrome P450 3A locus: Gene evolution by capture of downstream exons. Gene 2000, 260: 13-23.
35. Thummel, K.E., Wilkinson, G.R. In vitro and in vivo drug interactions involving human CYP3A. Annu Rev Pharmacol Toxicol 1998, 38: 389-430.
36. Hustert, E., Haberl, M., Burk, O. et al. The genetic determinants of the CYP3A5 polymorphism. Pharmacogenetics 2001, 11: 773-9.
37. Wrighton, S.A., Ring, B.J., Watkins, P.B. et al. Identification of a polymorphically expressed member of the human cytochrome P-450 III family. Mol Pharmacol 1989, 36: 97-105.
38. Kuehl, P., Zhang, J., Lin, Y. et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat Genet 2001, 27: 383-91.
39. Chavez-Teyes, L., Castaneda-Hernandez, G., Flores-Murrieta, F.J. Pharmacokinetics of midazolam in Mexicans. Evidence for interethnic variability. Clin Drug Investig 1999, 17(3): 233-9.
40. Gonzalez, F.J., Schmid, B.J., Umeno, M. et al. Human P450PCN1: Sequence, chromosome localization and direct evidence through cDNA expression that P450 PCN1 is nifedipine oxidase. DNA 1988, 7: 79-86.
41. Sata, F., Sapone, A., Elizondo, G. et al. CYP3A4 allelic variants with amino acid substitution in exons 7 and 12: Evidence for an allelic variant with altered catalytic activity. Clin Pharmacol Ther 2000, 67: 48-56.
42. Hsieh, K.P., Lin, Y.Y., Chang, C.L. Novel mutations of CYP3A4 in Chinese. Drug Metab Dispos 2001, 29: 268-73.
43. Eiselt, R., Domanski, T.L., Zibat, A. et al. Identification and functional characterization of eight CYP3A4 protein variants. Pharmacogenetics 2001, 11: 447-58.
44. Lamba, J.K., Lin, Y.S., Thummel, K. et al. Common allelic variants of cytochrome P503A4 and their prevalence in different populations. Pharmacogenetics 2002, 12: 121-32.
45. Hamzeiy, H., Vahdati-Mashhadian, N., Edwards, H.J. et al. Mutation analysis of the human CYP3A4 gene 5′ regulatory region: Population screening using non-radioactive SSCP. Mutat Res 2002, 500: 103-10.
46. Fukushima-Uesaka, H., Saito, Y., Watanabe, H. et al. Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population. Hum Mutat 2004, 23: 100.
47. Dai, D., Tang, J., Rose, R., et al. Identification of variants of CYP3A4 and characterization of their abilities to metabolize testosterone and chlorpyrifos. J Pharmacol Exp Ther 2001, 299: 825-31.
48. Aoyama, T., Yamano, S., Waxman, D.J. et al. Cytochrome P-450 hPCN3, a novel cytochrome P-450 IIIA gene product that is differentially expressed in adult human liver. cDNA and deduced amino acid sequence and distinct specificities of cDNA-expressed hPCN1 and hPCN3 for the metabolism of steroid hormones and cyclosporine. J Biol Chem 1989, 264: 10388-95.
49. Jounaidi, Y., Hyrailles, V., Gervot, L. et al. Detection of CYP3A5 allelic variant: A candidate for the polymorphic expression of the protein? Biochem Biophys Res Commun 1996, 221: 466-70.
50. Lee, S.J., Usmani, K.A., Chanas, B. et al. Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groups. Pharmacogenetics 2003, 13: 461-72.
51. Saeki, M., Saito, Y., Nakamura, T. et al. Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population. Hum Mutat 2003, 21: 653.
52. Chou, F.C., Tzeng, S.J., Huang, J.D. Genetic polymorphism of cytochrome P450 3A5 in Chinese. Drug Metab Dispos 2001, 29: 1205-9.
53. Komori, M., Nishio, K., Ohi, H. et al. Molecular cloning and sequence analysis of cDNA containing the entire coding region for human fetal liver cytochrome P-450. J Biochem 1989, 105: 161-3.
54. Cauffiez, C., Guidice, J.M.L., Chevalier, D. et al. First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene. Identification of a loss of function variant. Hum Mutat 2003, 23: 101.
55. Ozdemir, V., Kalow, W., Tang, B.K. et al. Evaluation of the genetic component of variability in CYP3A4 activity: A repeated drug administration method. Pharmacogenetics 2000, 10: 373-88.
56. Walker, A.H., Jaffe, J.M., Gunasegaram, S. et al. Characterization of an allelic variant in the nifedipine-specific element CYP3A4: Ethnic distribution and implications for prostate cancer risk. Hum Mutat 1998, 12: 289.
57. van Schaik, R.H.N., de Wildt, S.N., Brosens, R. et al. The CYP3A4*3: Is it really rare? Clin Chem 2001, 47: 1104-6.
58. Van Schaik, R.H.N., De Wildt, S.N., Van Iperan, N.M. et al. CYP3A4-V polymorphism detection by PCR-restriction fragment length polymorphism analysis and its allele frequency among 199 Dutch Caucasians. Clin Chem 2000, 46: 1834-6.
59. Chowbay, B., Cumaraswamy, S., Cheung, Y.B. et al. Genetic polymorphisms in MDR1 and CYP3A4 genes in Asians and the influence of MDR1 haplotypes on cyclosporin disposition in heart transplant recipients. Pharmacogenetics 2003, 13: 89-95.
60. Rebbeck, T.R., Jaffe, J.M., Walker, A.H. et al. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 1998, 90: 1225-9.
61. Felix, C.A., Walker, A.H., Lange, B.J. et al. Association of CYP3A4 genotype with treatment-related leukemia. Proc Natl Acad Sci USA 1998, 95: 13176-81.
62. Wandel, C., Witte, J.S., Hall, J.M. et al. CYP3A activity in African American and European American men: Population differences and functional effect of the CYP3A4*1B 5′-promoter region polymorphism. Clin Pharmacol Ther 2000, 68: 82-91.
63. Amirimani, B., Walker, A.H., Weber, B.L. et al. Response: re: modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 1999, 91: 1588-90.
64. Rebbeck, T.R. More about: Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 2000, 92: 76.
65. Westlind, A., Lofberg, L., Tindberg, N. et al. Inter individual differences in hepatic expression of CYP3A4: Relationship to genetic polymorphism in the 5′-upstream regulatory region. Biochem Biophys Res Commun 1999, 259: 201-5.
66. Ando, Y., Tateishi, T., Sekido, Y. et al. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst 1999, 91: 1587-8.
67. Hesselink, D.A., van Schaik, R.H.N., van der Heiden, I.P. et al. Genetic polymorphisms of the CYP3A4, CYP3A5 and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus. Clin Pharmacol Ther 2003, 74: 245-54.
68. Balram, C., Zhou, Q., Cheung, Y.B. et al. CYP3A5*3 and *6 single nucleotide polymorphisms in three distinct Asian populations. Eur J Clin Pharmacol 2003, 59: 123-6.
69. Van Shaik, R.H.N., Van Der Heidon, I.P., Van Den Anker, J.N. et al. CYP3A5 variant allele frequencies in Dutch Caucasians. Clin Chem 2002, 48: 1668-71.
70. Fukuen, S., Fukuda, T., Maune, H. et al. Novel detection assay by PCR-RFLP and frequency of the CYP3A5*3 and *6 in a Japanese population. Pharmacogenetics 2002, 12: 331-4.
71. Williams, J.A., Ring, B.J., Cantrell, V.E. et al. Comparative metabolic capabilities of CYP3A4, CYP3A5 and CYP3A7. Drug Metab Dispos 2002, 30: 883-91.
72. Anttila, S., Hukkanen, J., Hakkola, J. et al. Expression and localization of CYP3A4 and CYP3A5 in human lung. Am J Respir Cell Mol Biol 1997, 16: 242-9.
73. Burk, O., Tegude, H., Koch, I. et al. Molecular mechanisms of polymorphic CYP3A7 expression in adult human liver and intestine. J Biol Chem 2002, 277: 24280-8.
74. Yu, K.S., Cho, J.Y., Shon, J.H. et al. Ethnic differences and relationships in the oral pharmacokinetics of nifedipine and erythromycin. Clin Pharmacol Ther 2001, 70: 228-36.
75. Sowunmi, A., Rashid, T.J., Akinyinka, O.O. et al. Ethnic differences in nifedipine kinetics: Comparisons between Nigerians, Caucasians and South Asians. Br J Clin Pharmacol 1995, 40: 489-93.
76. Ajir, K., Smith, M., Lin, K.M. et al. The pharmacokinetics and pharmacodynamics of adinazolam: Multi-ethnic comparisons. Psychopharmacology 1997, 129: 265-70.
77. Mancinelli, L.M., Frassetto, L., Floren, L.C. et al. The pharmacokinetics and metabolic disposition of tacrolimus: A comparison across ethnic groups. Clin Pharmacol Ther 2001, 69: 24-31.
78. Tateishi, T., Watanabe, M., Nakura, H. et al. CYP3A activity in European American and Japanese men using midazolam as an in vivo probe. Clin Pharmacol Ther 2001, 69: 333-9.
79. Kinirons, M.T., Lang, C.C., He, H.B. et al. Triazolam pharmacokinetics and pharmacodynamics in Caucasians and Southern Asians: Ethnicity and CYP3A activity. Br J Clin Pharmacol 1996, 41: 69-72.
80. Hendershot, P.E., Fleishaker, J.C., Lin, K.M. et al. Pharmacokinetics of reboxetine in healthy volunteers with different ethnic descents. Psychopharmacology 2001, 155: 148-53.
81. Thomsen, M.S., Chassard, D., Evene, E. et al. Pharmacokinetics of repaglinide in healthy Caucasian and Japanese subjects. J Clin Pharmacol 2003, 43: 23-8.
82. Greenblatt, D.J., Ehrenberg, B.L., Harmatz, J.S. et al. Comparative pharmacodynamics of intravenous alprazolam, adinazolam and desmethyladinazolam. Clin Pharmacol Ther 1996, 59: 178.
83. Fleishaker, J.C., Philips, J.P. Adinazolam pharmacokinetics and behavioural effects following administration of 20-60 mg doses of its mesylate salt in healthy volunteers. Psychopharmacology 1989, 99: 34-9.
84. Lin, K.M., Poland, R.E., Nakasaki, G. Psychopharmacology and Psychobiology of Ethnicity. American Psychiatric Press: Washington, DC 1993, 91-105.
85. Ahsan, C.H., Renwick, A.G., Waller, D.G. et al. The influences of dose and ethnic origins on the pharmacokinetics of nifedipine. Clin Pharmacol Ther 1993, 54: 329-38.
86. Rashid, T.J., Martin, U., Clarke, H. et al. Factors affecting the absolute bioavailability of nifedipine. Br J Clin Pharmacol 1995, 40: 51-8.
87. Castaneda-Hernandez, G., Hoyo-Vadillo, C., Palma-Aguirre, J.A. et al. Pharmacokinetics of oral nifedipine in different populations. J Clin Pharmacol 1993, 33: 140-5.
88. Watkins, P.B. Non-invasive tests of CYP3A enzymes. Pharmacogenetics 1994, 4: 171-84.
89. Guengerich, P.P., Martin, M.V., Beaune, P.H. et al. Characterization of rat and human liver microsomal cytochrome P-450 forms involved in nifedipine oxidation, a prototype for genetic polymorphism in oxidative drug metabolism. J Biol Chem 1986, 261: 5051-60.
90. Lang, C.C., Kinirons, M.T., Robin, D.R. et al. Evidence of increased CYP3A activity in African Americans. Clin Pharmacol Ther 1996, 59: 158.
91. Kronbach, T., Mathys, D., Umeno, M. et al. Oxidation of midazolam and triazolam by human liver cytochrome P450IIIA4. Mol Pharmacol 1989, 36: 89-96.
92. Gorski, J.C., Hall, S.D., Jones, D.R. et al. Regioselective biotransformation of midazolam by members of the human cytochrome P4503A (CYP3A) subfamily. Biochem Pharmacol 1994, 47: 1643-53.
93. Kumana, C.R., Lauder, I.J., Chan, M. et al. Differences in diazepam pharmacokinetics in Chinese and White Caucasians-relation to body lipid stores. Eur J Clin Pharmacol 1987, 32: 211-5.
94. Balson, K.R., Morgan, D.J., Richmond, B.H. et al. Pharmacokinetics of midazolam in Vietnamese subjects. J Gastroenterol Hepatol 1996, 11: 1177-80.
95. Lewis, P., Rack, P.H., Vaddadi, K.S. et al. Ethnic differences in drug response. Postgrad Med J 1980, 56: 46-9.
96. Min, D.I., Lee, M., Ku, Y.-M. et al. Gender-dependent racial difference in disposition of cyclosporine among healthy African American and white volunteers. Clin Pharmacol Ther 2000, 68: 478-86.
97. Lee, M., Min, D.I., Ku, Y.-M. et al. Effect of grapefruit juice on pharmacokinetics of microemulsion cyclosporine in African American subjects compared with Caucasian subjects: Does ethnic difference matter? J Clin Pharmacol 2001, 41: 317-23.
98. Muck, W., Unger, S., Kawano, K. et al. Inter-ethnic comparisons of the pharmacokinetics of the HMG-CoA reductase inhibitor cerivastatin. Br J Clin Pharmacol 1998, 45: 583-90.
99. Lin, K.M., Poland, R.E. Ethnicity, culture and psychopharmacology. In: Psychopharmacology: The Fourth Generation of Progress. Bloom, P.E., Kupfer, D.J. (Eds.). Raven Press: New York 1995, 1907-17.
100. Lindholm, A., Welsh, M., Alton, C. et al. Demographic factors influencing cyclosporine pharmacokinetic parameters in patients with uremia: Racial differences in bioavailability. Clin Pharmacol Ther 1992, 52: 359-71.
101. Fitzsimmons, W.E., Bekersky, I., Dressler, D. et al. Demographic considerations in tacrolimus pharmacokinetics. Transplant Proc 1998, 30: 1359-64.
102. Zimmerman, J.J., Kahan, B.D. Pharmacokinetics of sirolimus in stable renal transplant patients after multiple oral dose administration. J Clin Pharmacol 1997, 37: 405-15.
103. Wienkers, L.C., Allievi, C., Hauer, M.T. et al. Cytochrome P450-mediated metabolism of the individual enantiomers of the antidepressant agent reboxetine in human liver microsomes. Drug Metab Dispos 1999, 27: 1334-40.
104. Herman, B.D., Fleishaker, J.C., Brown, M.T. Ketoconazole inhibits the clearance of the enantiomers of the antidepressant reboxetine in humans. Clin Pharmacol Ther 1999, 66: 374-9.