Phenotype-genotype variability in the human CYP3A locus as assessed by the probe drug quinine and analyses of variant CYP3A4 alleles

Biochemical and Biophysical Research Communications

Volumn 338, Issue 1, 2005, Pages 299-305

  Rodríguez Antona, Cristina ^a,d   Sayi, Jane G ^b   Gustafsson, Lars L ^c   Bertilsson, Leif ^c   Ingelman Sundberg, Magnus ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b Faculty of Medicine Kilimanjaro Christian Medical College   (Tanzania)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d Centro Nacional de Investigaciones Oncológicas   (Spain)

Author keywords

CYP3A4*1B; Cytochrome P450 3A; Haplotype; Interethnic differences; Phenotype genotype associations; Polymorphism; Quinine

Indexed keywords

CYTOCHROME P450 3A; CYTOCHROME P450 3A4; QUININE;

ANALYTIC METHOD; BINDING AFFINITY; CONTROLLED STUDY; ENZYME METABOLISM; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; INDIVIDUALITY; LIVER; MOLECULAR PROBE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; TANZANIA; VOLUNTEER;

ALLELES; CYTOCHROME P-450 ENZYME SYSTEM; GENOTYPE; HUMANS; PHENOTYPE; QUININE; VARIATION (GENETICS);

CINCHONA PUBESCENS;

EID: 27544486754     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.09.020     Document Type: Review

References (36)

1. R.J. Bertz, and G.R. Granneman Use of in vitro and in vivo data to estimate the likelihood of metabolic pharmacokinetic interactions Clin. Pharmacokinet. 32 1997 210 258
2. W.E. Evans, and M.V. Relling Pharmacogenomics: translating functional genomics into rational therapeutics Science 286 1999 487 491
3. K.A. Phillips, D.L. Veenstra, E. Oren, J.K. Lee, and W. Sadee Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review JAMA 286 2001 2270 2279
4. T. Shimada, H. Yamazaki, M. Mimura, Y. Inui, and P. Guengerich 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. 270 1994 414 423
5. S.A. Wrighton, D.T. Molowa, and P.S. Guzelian Identification of a cytochrome P-450 in human fetal liver related to glucocorticoid-inducible cytochrome P-450HLp in the adult Biochem. Pharmacol. 37 1988 3053 3055
6. D. Lacroix, M. Sonnier, A. Moncion, G. Cheron, and T. Cresteil Expression of CYP3A in the human liver-evidence that the shift between CYP3A7 and CYP3A4 occurs immediately after birth Eur. J. Biochem. 247 1997 625 634
7. P. Kuehl, J. Zhang, Y. Lin, J. Lamba, M. Assem, J. Schuetz, P.B. Watkins, A. Daly, S.A. Wrighton, S.D. Hall, P. Maurel, M. Relling, C. Brimer, K. Yasuda, R. Venkataramanan, S. Strom, K. Thummel, M.S. Boguski, and E. Schuetz Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression Nat. Genet. 27 2001 383 391
8. C. Rodriguez-Antona, M. Axelson, C. Otter, A. Rane, and M. Ingelman-Sundberg A novel polymorphic cytochrome P450 formed by splicing of CYP3A7 and the pseudogene CYP3AP1 J. Biol. Chem. 2005
9. V. Ozdemir, W. Kalowa, B.K. Tang, A.D. Paterson, S.E. Walker, L. Endrenyi, and A.D. Kashuba Evaluation of the genetic component of variability in CYP3A4 activity: a repeated drug administration method Pharmacogenetics 10 2000 373 388
10. R. Eiselt, T.L. Domanski, A. Zibat, R. Mueller, E. Presecan-Siedel, E. Hustert, U.M. Zanger, J. Brockmoller, H.P. Klenk, U.A. Meyer, K.K. Khan, Y.A. He, J.R. Halpert, and L. Wojnowski Identification and functional characterization of eight CYP3A4 protein variants Pharmacogenetics 11 2001 447 458
11. F. Sata, A. Sapone, G. Elizondo, P. Stocker, V.P. Miller, W. Zheng, H. Raunio, C.L. Crespi, and F.J. Gonzalez CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: evidence for an allelic variant with altered catalytic activity Clin. Pharmacol. Ther. 67 2000 48 56
12. M.D. Floyd, G. Gervasini, A.L. Masica, G. Mayo, A.L. George Jr., K. Bhat, R.B. Kim, and G.R. Wilkinson Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women Pharmacogenetics 13 2003 595 606
13. P. He, M.H. Court, D.J. Greenblatt, and L.L. Von Moltke Genotype-phenotype associations of cytochrome P450 3A4 and 3A5 polymorphism with midazolam clearance in vivo Clin. Pharmacol. Ther. 77 2005 373 387
14. A. Westlind-Johnsson, S. Malmebo, A. Johansson, C. Otter, T.B. Andersson, I. Johansson, R.J. Edwards, A.R. Boobis, and M. Ingelman-Sundberg Comparative analysis of CYP3A expression in human liver suggests only a minor role for CYP3A5 in drug metabolism Drug Metab. Dispos. 31 2003 755 761
15. R.A. Mirghani, U. Hellgren, P.A. Westerberg, O. Ericsson, L. Bertilsson, and L.L. Gustafsson The roles of cytochrome P450 3A4 and 1A2 in the 3-hydroxylation of quinine in vivo Clin. Pharmacol. Ther. 66 1999 454 460
16. R.A. Mirghani, U. Yasar, T. Zheng, J.M. Cook, L.L. Gustafsson, G. Tybring, and O. Ericsson Enzyme kinetics for the formation of 3-hydroxyquinine and three new metabolites of quinine in vitro; 3-hydroxylation by CYP3A4 is indeed the major metabolic pathway Drug Metab. Dispos. 30 2002 1368 1371
17. H. Zhang, P.F. Coville, R.J. Walker, J.O. Miners, D.J. Birkett, and S. Wanwimolruk Evidence for involvement of human CYP3A in the 3-hydroxylation of quinine Br. J. Clin. Pharmacol. 43 1997 245 252
18. X.J. Zhao, H. Yokoyama, K. Chiba, S. Wanwimolruk, and T. Ishizaki Identification of human cytochrome P450 isoforms involved in the 3-hydroxylation of quinine by human live microsomes and nine recombinant human cytochromes P450 J. Pharmacol. Exp. Ther. 279 1996 1327 1334
19. R.A. Mirghani, J. Sayi, A. Allqvista, M. Jande, A. Wennerholm, J. Eriksen, V.M.M. Herben, B.C. Jones, L.L. Gustafsson, L. Bertilsson, CYP3A5 genotype has significant effect on quinine 3-hydroxylation in Tanzanians, who have lower total CYP3A activity compared to a Swedish population, Submitted (2005).
20. R.A. Mirghani, O. Ericsson, J. Cook, P. Yu, and L.L. Gustafsson Simultaneous determination of quinine and four metabolites in plasma and urine by high-performance liquid chromatography J. Chromatogr. B. Biomed. Sci. Appl. 754 2001 57 64
21. E. Schreiber, P. Matthias, M.M. Muller, and W. Schaffner Rapid detection of octamer binding proteins with 'mini-extracts', prepared from a small number of cells. Nucleic Acids Res. 17 1989 6419
22. A. Westlind, L. Lofberg, N. Tindberg, T.B. Andersson, and M. Ingelman-Sundberg Interindividual differences in hepatic expression of CYP3A4: relationship to genetic polymorphism in the 5′-upstream regulatory region. Biochem. Biophys. Res. Commun. 259 1999 201 205
23. C. Le Jossic, D. Glaise, L. Corcos, C. Diot, J.F. Dezier, A. Fautrel, and C. Guguen-Guillouzo trans-Acting factors, detoxication enzymes and hepatitis B virus replication in a novel set of human hepatoma cell lines Eur. J. Biochem. 238 1996 400 409
24. E. Wingender, X. Chen, R. Hehl, H. Karas, I. Liebich, V. Matys, T. Meinhardt, M. Prüß, I. Reuter, and F. Schacherer TRANSFAC: an integrated system for gene expression regulation Nucleic Acids Res. 2000 316 319
25. M. Merika, and S.H. Orkin DNA-binding specificity of GATA family transcription factors Mol. Cell. Biol. 13 1993 3999 4010
26. H. Fukushima-Uesaka, Y. Saito, H. Watanabe, K. Shiseki, M. Saeki, T. Nakamura, K. Kurose, K. Sai, K. Komamura, K. Ueno, S. Kamakura, M. Kitakaze, S. Hanai, T. Nakajima, K. Matsumoto, H. Saito, Y. Goto, H. Kimura, M. Katoh, K. Sugai, N. Minami, K. Shirao, T. Tamura, N. Yamamoto, H. Minami, A. Ohtsu, T. Yoshida, N. Saijo, Y. Kitamura, N. Kamatani, S. Ozawa, and J. Sawada Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population Hum. Mutat. 23 2004 100
27. H. Hamzeiy, V. Bombail, N. Plant, G. Gibson, and P. Goldfarb Transcriptional regulation of cytochrome P4503A4 gene expression: effects of inherited mutations in the 5′-flanking region Xenobiotica 33 2003 1085 1095
28. J.K. Lamba, Y.S. Lin, E.G. Schuetz, and K.E. Thummel Genetic contribution to variable human CYP3A-mediated metabolism Adv. Drug Deliv. Rev. 54 2002 1271 1294
29. L. Wojnowski, E. Hustert, K. Klein, M. Goldammer, M. Haberl, J. Kirchheiner, I. Koch, J. Klattig, U. Zanger, and J. Brockmoller Re: modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4 J. Natl. Cancer Inst. 94 2002 630 631 [author reply 631-632]
30. H. Dally, L. Edler, B. Jager, P. Schmezer, B. Spiegelhalder, H. Dienemann, P. Drings, V. Schulz, K. Kayser, H. Bartsch, and A. Risch The CYP3A4*1B allele increases risk for small cell lung cancer: effect of gender and smoking dose Pharmacogenetics 13 2003 607 618
31. E.E. Thompson, H. Kuttab-Boulos, D. Witonsky, L. Yang, B.A. Roe, and A. Di Rienzo CYP3A variation and the evolution of salt-sensitivity variants Am. J. Hum. Genet. 75 2004 1059 1069
32. T.R. Rebbeck, J.M. Jaffe, A.H. Walker, A.J. Wein, and S.B. Malkowicz Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4 J. Natl. Cancer Inst. 90 1998 1225 1229
33. C.A. Felix, A.H. Walker, B.J. Lange, T.M. Williams, N.J. Winick, N.K. Cheung, B.D. Lovett, P.C. Nowell, I.A. Blair, and T.R. Rebbeck Association of CYP3A4 genotype with treatment-related leukemia Proc. Natl. Acad. Sci. USA 95 1998 13176 13181
34. F.F. Kadlubar, G.S. Berkowitz, R.R. Delongchamp, C. Wang, B.L. Green, G. Tang, J. Lamba, E. Schuetz, and M.S. Wolff The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer Cancer Epidemiol. Biomarkers Prev. 12 2003 327 331
35. A.B. Spurdle, B. Goodwin, E. Hodgson, J.L. Hopper, X. Chen, D.M. Purdie, M.R. McCredie, G.G. Giles, G. Chenevix-Trench, and C. Liddle The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer Pharmacogenetics 12 2002 355 366
36. S.E. Ball, J. Scatina, J. Kao, G.M. Ferron, R. Fruncillo, P. Mayer, I. Weinryb, M. Guida, P.J. Hopkins, N. Warner, and J. Hall Population distribution and effects on drug metabolism of a genetic variant in the 5′ promoter region of CYP3A4 Clin. Pharmacol. Ther. 66 1999 288 294