Genetic contribution to variable human CYP3A-mediated metabolism

Advanced Drug Delivery Reviews

Volumn 64, Issue SUPPL., 2012, Pages 256-269

  Lamba, Jatinder K ^a   Lin, Yvonne S ^b   Schuetz, Erin G ^a   Thummel, Kenneth E ^b  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Biotransformation; Cytochrome P450; Drug metabolism; Genetic polymorphism; Pharmacogenetics; Toxicogenetics

Indexed keywords

BIOTRANSFORMATION; CYTOCHROME P450; DRUG METABOLISMS; GENETIC POLYMORPHISMS; PHARMACOGENETICS; TOXICOGENETICS;

BIOCHEMISTRY; CATALYSIS; DRUG PRODUCTS; ENDOCRINOLOGY; ENVIRONMENTAL REGULATIONS; ENZYMES; GENES; HISTOLOGY; MOLECULES; NUTRITION; PHYSIOLOGY; PROTEINS; TISSUE; TRANSCRIPTION; UROLOGY;

METABOLISM;

ALPRAZOLAM; BUSPIRONE; CYCLOSPORIN; CYTOCHROME P450 3A; CYTOCHROME P450 3A4; CYTOCHROME P450 3A5; CYTOCHROME P450 3A7; EPIPODOPHYLLOTOXIN; ERYTHROMYCIN; MESSENGER RNA; MEVINOLIN; MIDAZOLAM; NIFEDIPINE; RETINOID X RECEPTOR ALPHA; STEROID; TERFENADINE; ZOLPIDEM;

AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; AREA UNDER THE CURVE; CATALYSIS; CHINESE; CYP3A4 GENE; DIETARY INTAKE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DNA FLANKING REGION; DRUG BIOAVAILABILITY; DRUG DISPOSITION; DRUG EFFICACY; DRUG METABOLISM; DRUG SAFETY; ENZYME ACTIVITY; ENZYME REGULATION; ENZYME SPECIFICITY; ENZYME SUBSTRATE COMPLEX; ETHNIC DIFFERENCE; FIRST PASS EFFECT; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; JAPANESE; LEUKEMIA; METABOLIC CLEARANCE RATE; MICROSOME; NULL ALLELE; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROSTATE CANCER; PROTEIN EXPRESSION; PUBERTY; REVIEW; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; STEREOCHEMISTRY; STEROID METABOLISM; STOP CODON; TISSUE SPECIFICITY; TRANSCRIPTION REGULATION; WILD TYPE; XENOBIOTIC METABOLISM;

EID: 84870255195     PISSN: 0169409X     EISSN: 18728294     Source Type: Journal    
DOI: 10.1016/j.addr.2012.09.017     Document Type: Review

References (114)

1. Guengerich F.P. Cytochrome P-450 3A4: regulation and role in drug metabolism. Annu. Rev. Pharmacol. Toxicol. 1999, 39:1-17.
2. Korzekwa K.R., Krishnamachary N., Shou M., Ogai A., Parise R.A., Rettie A.E., Gonzalez F.J., Tracy T.S. Evaluation of atypical cytochrome P450 kinetics with two-substrate-models: evidence that multiple substrates can simultaneously bind to cytochrome P450 active sites. Biochemistry 1998, 37:4137-4147.
3. Thummel K.E., Kunze K.L., Shen D.D. Enzyme-catalyzed processes of first-pass hepatic and intestinal drug extraction. Adv. Drug Deliv. Rev. 1997, 27:99-127.
4. Guengerich F.P. Role of cytochrome P450 enzymes in drug-drug interactions. Adv. Pharmacol. 1997, 43:7-35.
5. Thummel K.E., Wilkinson G.R. In vitro and in vivo drug interactions involving human CYP3A. Annu. Rev. Pharmacol. Toxicol. 1998, 38:389-430.
6. Wrighton S.A., Brian W.R., Sari M.-A., Iwasaki M., Guengerich F.P., Raucy J.L., Molowa D.T., VandenBraden M. Studies on the expression and metabolic capabilities of human liver cytochrome P450IIIA5 (HLp3). Mol. Pharmacol. 1990, 38:207-213.
7. Paine M.F., Khalighi M., Fisher J.M., Shen D.D., Kunze K.L., Marsh C.L., Perkins J.D., Thummel K.E. Characterization of inter- and intra-intestinal differences in human CYP3A-dependent metabolism. J. Pharmacol. Exp. Ther. 1997, 283:1552-1562.
8. Hakkola J., Raunio H., Purkunen R., Saarikoski S., Vahakangas K., Pelkonen O., Edwards R.J., Boobis A.R., Pasanen M. Cytochrome P450 3A expression in the human fetal liver: evidence that CYP3A5 is expressed in only a limited number of fetal livers. Biol. Neonate 2001, 80:193-201.
9. de Wildt S.N., Kearns G.L., Leeder J.S., van den Anker J.N. Cytochrome P450 3A: ontogeny and drug disposition. Clin. Pharmacokinet. 1999, 37:485-505.
10. Tateishi T., Watanabe M., Moriya H., Yamaguchi S., Sato T., Kobayashi S. No ethnic difference between Caucasian and Japanese hepatic samples in the expression frequency of CYP3A5 and CYP3A7 proteins. Biochem. Pharmacol. 1999, 57:935-939.
11. Domanski T.L., Finta C., Halpert J.R., Zaphiropoulos P.G. cDNA cloning and initial characterization of CYP3A43, a novel human cytochrome P450. Mol. Pharmacol. 2001, 59:386-392.
12. Westlind A., Malmebo S., Johansson I., Otter C., Andersson T.B., Ingelman-Sundberg M., Oscarson M. Cloning and tissue distribution of a novel human cytochrome P450 of the CYP3A subfamily, CYP3A43. Biochem. Biophys. Res. Commun. 2001, 281:1349-1355.
13. DeWaziers I., Cugnenc P.H., Yang C.S., Leroux J.-P., Beaune P.H. Cytochrome P450 isoenzymes, epoxide hydrolase and glutathione transferases in rat and human hepatic and extrahepatic tissues. J. Pharmacol. Exp. Ther. 1990, 253:387-394.
14. Shimada T., Yamazaki H., Mimura M., Inui Y., Guengerich F.P. Interindividual variations in human liver cytochrome P450 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, 270:414-423.
15. Ozdemir V., Kalowa W., Tang B.K., Paterson A.D., Walker S.E., Endrenyi L., Kashuba A.D. Evaluation of the genetic component of variability in CYP3A4 activity: a repeated drug administration method. Pharmacogenetics 2000, 10:373-388.
16. Jounäidi Y., Hyrailles V., Gervot L., Maurel P. Detection of a CYP3A5 allelic variant: a candidate for the polymorphic expression of the protein?. Biochem. Biophys. Res. Commun. 1996, 221:466-470.
17. Kuehl P., Zhang J., Lin Y., Lamba J., Assem M., Schuetz J., Watkins P.B., Daly A., Wrighton S.A., Hall S.D., Maurel P., Relling M., Brimer C., Yasuda K., Venkataramanan R., Strom S., Thummel K., Boguski M.S., Schuetz E. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat. Genet. 2001, 27:383-391.
18. Hustert E., Haberl M., Burk O., Wolbold R., He Y.Q., Klein K., Nuessler A.C., Neuhaus P., Klattig J., Eiselt R., Koch I., Zibat A., Brockmoller J., Halpert J.R., Zanger U.M., Wojnowski L. The genetic determinants of the CYP3A5 polymorphism. Pharmacogenetics 2001, 11:773-779.
19. Lin Y., Dowling A., Quigley S., Farin F., Zhang J., Lamba J., Schuetz E., Thummel K. Co-regulation of CYP3A5 and CYP3A5 and contribution to hepatic and intestinal midazolam metabolism. Mol. Pharmacol. 2002, 62:162-172.
20. Gorski J.C., Hall S.D., Jones D.R., VandenBranden M., Wrighton S.A. Regioselective biotransformation of midazolam by members of the human cytochrome P450 3A (CYP3A) subfamily. Biochem. Pharmacol. 1994, 47:1643-1653.
21. Bargetzi M.J., Aoyama T., Gonzalez F.J., Meyer U.A. Lidocaine metabolism in human liver microsomes by cytochrome P450IIIA4. Clin. Pharmacol. Ther. 1989, 46:521-527.
22. Guitton J., Buronfosse T., Desage M., Lepape A., Brazier J.L., Beaune P. Possible involvement of multiple cytochrome P450s in fentanyl and sufentanil metabolism as opposed to alfentanil. Biochem. Pharmacol. 1997, 53:1613-1619.
23. Aoyama T., Yamano S., Waxman D.J., Lapenson D.P., Meyer U.A., Fischer V., Tyndale R., Inaba T., Kalow W., Gelboin H.V., Gonzalez F.J. Cytochrome P-450 hPCN3, a novel cytochrome P-450IIIA 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, 264:10388-10395.
24. Waxman D.J., Lapenson D.P., Aoyama T., Gelboin H.V., Gonzalez F.J., Korzekwa K. Steroid hormone hydroxylase specificities of 11 cDNA-expressed human cytochrome P450s. Arch. Biochem. Biophys. 1991, 290:160-166.
25. Williams J. Comparative metabolic capabilities of CYP3A4, CYP3A5, and CYP3A7. Drug Metab. Dispos. 2002, 30:883-891.
26. Gillam E.M.J., Guo Z., Ueng Y.-F., Yamazaki H., Cock I., Reilly P.E.B., Hooper W.D., Guengerich F.P. Expression of cytochrome P450 3A5 in Escherichia coli: effects of 5' modification, purification, spectral characterization, reconsitution conditions, and catalytic activities. Arch. Biochem. Biophys. 1995, 317:374-384.
27. Holmans P.L., Shet M.S., Martin-Wixtrom C.A., Fisher C.W., Estabrook R.W. The high-level expression in Escherichia coli of the membrane-bound form of human and rat cytochrome b5 and studies on their mechanism of function. Arch. Biochem. Biophys. 1994, 312:554-565.
28. Yamazaki H., Ueng Y.-F., Shimada T., Guengerich F.P. Roles of divalent metal ions in oxidations catalyzed by recombinant cytochrome P450 3A4 and replacement of NADPH-cytochrome P450 reductase with other flavoproteins, ferredoxin, and oxygen surrogates. Biochemistry 1995, 34:8380-8389.
29. Voice M.W., Zhang Y., Wolf C.R., Burchell B., Friedberg T. Effects of human cytochrome b5 on CYP3A4 activity and stability in vivo. Arch. Biochem. Biophys. 1999, 366:116-124.
30. Hirota N., Ito K., Iwatsubo T., Green C.E., Tyson C.A., Shimada N., Suzuki H., Sugiyama Y. In vitro/in vivo scaling of alprazolam metabolism by CYP3A4 and CYP3A5 in humans. Biopharm. Drug Dispos. 2001, 22:53-71.
31. Schuetz J.D., Beach D.L., Guzelian P.S. Selective expression of cytochrome P450 CYP3A mRNAs in embryonic and adult human liver. Pharmacogenetics 1994, 4:11-20.
32. Li Y., Yokoi T., Sasaki M., Hattori K., Katsuki M., Kamataki T. Perinatal expression and inducibility of human CYP3A7 in C57BL/6N transgenic mice. Biochem. Biophys. Res. Commun. 1996, 228:312-317.
33. Yang H.-Y., Lee Q.P., Rettie A.E., Juchau M.R. Functional cytochrome P4503A isoforms in human embryonic tissues: expression during organogenesis. Mol. Pharmacol. 1994, 46:922-928.
34. Kitada K., Taneda M., Itahashi K., Kamataki T. Four forms of cytochrome P-450 in human fetal livers: purification and their capacity to activate promutagens. Jpn. J. Cancer Res. 1991, 82:426-432.
35. Kitada M., Kamataki T., Itahashi K., Rikihisa T., Kanakubo Y. P-450 HFLa, a form of cytochrome P-450 purified from human fetal livers, is the 16α-hydroxylase of dehydroepiandrosterone 3-sulfate. J. Biol. Chem. 1987, 262:13534-13537.
36. Speroff L. The endocrinology of pregnancy. Clinical Gynecologic Endocrinology and Infertility 1994, 317-350. Williams & Wilkins, Baltimore, MD. 5th Edition. L. Speroff, R. Glass, N. Kase (Eds.).
37. Marill J., Cresteil T., Lanotte M., Chabot G.G. Identification of human cytochrome P450s involved in the formation of all-trans-retinoic acid principal metabolites. Mol. Pharmacol. 2000, 58:1341-1348.
38. Watkins P.B. Noninvasive tests of CYP3A enzymes. Pharmacogenetics 1994, 4:171-184.
39. Lown K.S., Thummel K.E., Benedict P.E., Shen D.D., Turgeon D.K., Berent S., Watkins P.B. The erythromycin breath test predicts the clearance of midazolam. Clin. Pharmacol. Ther. 1995, 57:16-24.
40. Kinirons M.T., O'Shea D., Downing T.E., Fitzwilliam A., Joellenbeck L., Groopman J.D., Wilkinson G.R., Wood A.J.J. Absence of correlations among three putative in vivo probes of human cytochrome P4503A activity in young healthy men. Clin. Pharmacol. Ther. 1993, 54:621-629.
41. Lan L.B., Dalton J.T., Schuetz E.G. Mdr1 limits CYP3A metabolism in vivo. Mol. Pharmacol. 2000, 58:863-869.
42. Kenworthy K.E., Bloomer J.C., Clarke S.E., Houston J.B. CYP3A4 drug interactions: correlation of 10 in vitro probe substrates. Br. J. Clin. Pharmacol. 1999, 48:716-727.
43. Lin Y.S., Lockwood G.F., Graham M.A., Brian W.R., Loi C.M., Dobrinska M.R., Shen D.D., Watkins P.B., Wilkinson G.R., Kharasch E.D., Thummel K.E. In-vivo phenotyping for CYP3A by a single-point determination of midazolam plasma concentration. Pharmacogenetics 2001, 11:781-791.
44. Guengerich F.P., Martin M.V., Beaune P.H., Kremers P., Wolff T., Waxman D.J. Characterization of rat and human liver microsomal cytochrome P450 forms involved in nifedipine oxidation, a prototype for genetic polymorphism in oxidative drug metabolism. J. Biol. Chem. 1986, 261:5051-5060.
45. Schellens J.H.M., Soons P.A., Breimer D.D. Lack of bimodality in nifedipine kinetics in a large population of healthy subjects. Biochem. Pharmacol. 1988, 37:2507-2510.
46. Lown K.S., Kolars J.C., Thummel K.E., Barnett J.L., Kunze K.L., Wrighton S.A., Watkins P.B. Interpatient heterogeneity in expression of CYP3A4 and CYP3A5 in small bowel: lack of prediction by the erythromycin breath test. Drug Metab. Dispos. 1994, 22:947-955.
47. Hellriegel E.T., Bjornsson T.D., Hauck W.W. Interpatient variability in bioavailability is related to the extent of absorption: implications for bioavailability and bioequivalence studies. Clin. Pharmacol. Ther. 1996, 60:601-607.
48. Lalonde R.L., Lessard D., Gaudreault J. Population pharmacokinetics of terfenadine. Pharm. Res. 1996, 13:832-838.
49. Desager J.P., Horsmans Y. Clinical pharmacokinetics of 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors. Clin. Pharmacokinet. 1996, 31:348-371.
50. Gammans R.E., Mayol R.F., LaBudde J.A. Metabolism and disposition of buspirone. Am. J. Med. 1986, 80:41-51.
51. Friedman H., Redmond D.E., Greenblatt D.J. Comparative pharmacokinetics of alprazolam and lorazepam in humans and in African Green Monkeys. Psychopharmacology 1991, 104:103-105.
52. Salva P., Costa J. Clinical pharmacokinetics and pharmacodynamics of zolpidem. Therapeutic implications. Clin. Pharmacokinet. 1995, 29:142-153.
53. Evans W.E., Relling M.V. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 1999, 286:487-491.
54. Gibson G.G., Plant N.J., Swales K.E., Ayrton A., El-Sankary W. Receptor-dependent transcriptional activation of cytochrome P4503A genes: induction mechanisms, species differences and interindividual variation in man. Xenobiotica 2002, 32:165-206.
55. Quattrochi L.C., Guzelian P.S. CYP3A regulation: from pharmacology to nuclear receptors. Drug Metab. Dispos. 2001, 29:615-622.
56. Goodwin B., Redinbo M.R., Kliewer S.A. Regulation of CYP3A gene transcription by the pregnane X receptor. Annu. Rev. Pharmacol. Toxicol. 2002, 42:1-23.
57. Abdel-Razzak Z., Loyer P., Fautrel A., Gautier J.C., Corcos L., Turlin B., Beaune P., Guillouzo A. Cytokines down-regulate expression of major cytochrome P-450 enzymes in adult human hepatocytes in primary culture. Mol. Pharmacol. 1993, 44:707-715.
58. 3. Mol. Pharmacol. 2001, 60:1399-1406.
59. Liddle C., Goodwin B.J., George J., Tapner M., Farrell G.C. Separate and interactive regulation of cytochrome P450 3A4 by triiodothyronine, dexamethasone, and growth hormone in cultured hepatocytes. J. Clin. Endocrinol. Metab. 1998, 83:2411-2416.
60. Gonzalez F.J., Schmid B.J., Umeno M., McBride O.W., Hardwick J.P., Meyer U.A., Gelboin H.V., Idle J.R. Human P450PCN1: sequence, chromosome localization, and direct evidence through cDNA expression that P450PCN1 is nifedipine oxidase. DNA 1988, 7:79-86.
61. Rebbeck T.R., Jaffe J.M., Walker A.H., Wein A.J., Malkowicz S.B. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J. Natl. Cancer Inst. 1998, 90:1225-1229.
62. Walker A.H., Jaffe J.M., Gunasegaram S., Cummings S.A., Huang C.S., Chern H.D., Olopade O.I., Weber B.L., Rebbeck T.R. Characterization of an allelic variant in the nifedipine-specific element of CYP3A4: ethnic distribution and implications for prostate cancer risk. Mutations in brief no. 191 Online. Hum. Mutat. 1998, 12:289.
63. Hsieh K.P., Lin Y.Y., Cheng C.L., Lai M.L., Lin M.S., Siest J.P., Huang J.D. Novel mutations of CYP3A4 in Chinese. Drug Metab. Dispos. 2001, 29:268-273.
64. Ball S.E., Scatina J., Kao J., Ferron G.M., Fruncillo R., Mayer P., Weinryb I., Guida M., Hopkins P.J., Warner N., Hall J. Population distribution and effects on drug metabolism of a genetic variant in the 5' promotor region of CYP3A4. Clin. Pharmacol. Ther. 1999, 66:288-294.
65. Garcia-Martin E., Martinez C., Pizarro R.M., Garcia-Gamito F.J., Gullsten H., Raunio H., Agundez J.A. CYP3A4 variant alleles in white individuals with low CYP3A4 enzyme activity. Clin. Pharmacol. Ther. 2002, 71:196-204.
66. Paris P.L., Kupelian P.A., Hall J.M., Williams T.L., Levin H., Klein E.A., Casey G., Witte J.S. Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients. Cancer Epidemiol. Biomarkers Prev. 1999, 8:901-905.
67. Sata F., Sapone A., Elizondo G., Stocker P., Miller V.P., Zheng W., Raunio H., Crespi C.L., Gonzalez F.J. 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.
68. Lamba J.K., Lin Y.S., Thummel K., Daly A., Watkins P.B., Strom S., Zhang J., Schuetz E.G. Common allelic variants of cytochrome P4503A4 and their prevalence in different populations. Pharmacogenetics 2002, 12:121-132.
69. Hamzeiy H., Vahdati-Mashhadian N., Edwards H.J., Goldfarb P.S. Mutation analysis of the human CYP3A4 gene 5' regulatory region: population screening using non-radioactive SSCP. Mutat. Res. 2002, 500:103-110.
70. Goodwin B., Hodgson E., Liddle C. The orphan human pregnane X receptor mediates the transcriptional activation of CYP3A4 by rifampicin through a distal enhancer module. Mol. Pharmacol. 1999, 56:1329-1339.
71. Eiselt R., Domanski T.L., Zibat A., Mueller R., Presecan-Siedel E., Hustert E., Zanger U.M., Brockmoller J., Klenk H.P., Meyer U.A., Khan K.K., He Y.A., Halpert J.R., Wojnowski L. Identification and functional characterization of eight CYP3A4 protein variants. Pharmacogenetics 2001, 11:447-458.
72. Amirimani B., Walker A.H., Weber B.L., Rebbeck T.R. RESPONSE: re: modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J. Natl. Cancer Inst. 1999, 91:1588-1590.
73. Ando Y., Tateishi T., Sekido Y., Yamamoto T., Satoh T., Hasegawa Y., Kobayashi S., Katsumata Y., Shimokata K., Saito H. Re: Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4 [letter; comment]. J. Natl. Cancer Inst. 1999, 91:1587-1590.
74. Westlind A., Lofberg L., Tindberg N., Andersson T.B., 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, 259:201-205.
75. Wandel C., Witte J.S., Hall J.M., Stein C.M., Wood A.J., Wilkinson G.R. 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.
76. von Ahsen N., Richter M., Grupp C., Ringe B., Oellerich M., Armstrong V.W. No influence of the MDR-1 C3435T polymorphism or a CYP3A4 promoter polymorphism (CYP3A4-V allele) on dose-adjusted cyclosporin A trough concentrations or rejection incidence in stable renal transplant recipients. Clin. Chem. 2001, 47:1048-1052.
77. Tayeb M.T., Clark C., Sharp L., Haites N.E., Rooney P.H., Murray G.I., Payne S.N., McLeod H.L. CYP3A4 promoter variant is associated with prostate cancer risk in men with benign prostate hyperplasia. Oncol. Rep. 2002, 9:653-655.
78. Felix C.A., Walker A.H., Lange B.J., Williams T.M., Winick N.J., Cheung N.K., Lovett B.D., Nowell P.C., Blair I.A., Rebbeck T.R. Association of CYP3A4 genotype with treatment-related leukemia. Proc. Natl. Acad. Sci. USA 1998, 95:13176-13181.
79. Petros W. Associations between variants in several drug metabolism genes and chemotherapy pharmacokinetics and clinical response. Proc. AACR 2001, 42:1435.
80. Kadlubar F. The putative high activity variant, CYP3A4*1B, predicts the onset of puberty in young girls. Proc. ARC 2001, 42:2198.
81. Lai J., Vesprini D., Chu W., Jernstrom H., Narod S.A. CYP gene polymorphisms and early menarche. Mol. Genet. Metab. 2001, 74:449-457.
82. Dai D., Tang J., Rose R., Hodgson E., Bienstock R.J., Mohrenweiser H.W., Goldstein J.A. Identification of variants of CYP3A4 and characterization of their abilities to metabolize testosterone and chlorpyrifos. J. Pharmacol. Exp. Ther. 2001, 299:825-831.
83. van Schaik R.H., de Wildt S.N., Brosens R., van Fessem M., van den Anker J.N., Lindemans J. The CYP3A4*3 allele: is it really rare?. Clin. Chem. 2001, 47:1104-1106.
84. Dickmann L.J., Rettie A.E., Kneller M.B., Kim R.B., Wood A.J., Stein C.M., Wilkinson G.R., Schwarz U.I. Identification and functional characterization of a new CYP2C9 variant (CYP2C9*5) expressed among African Americans. Mol. Pharmacol. 2001, 60:382-387.
85. Schuetz J.D., Molowa D.T., Guzelian P.S. Characterization of a cDNA encoding a new member of the glucocorticoid-responsive cytochromes P450 in human liver. Arch. Biochem. Biophys. 1989, 274:355-365.
86. Jounaidi Y., Guzelian P.S., Maurel P., Vilarem M.J. Sequence of the 5'-flanking region of CYP3A5: comparative analysis with CYP3A4 and CYP3A7. Biochem. Biophys. Res. Commun. 1994, 205:1741-1747.
87. Finta C., Zaphiropoulos P.G. The human cytochrome P450 3A locus. Gene evolution by capture of downstream exons. Gene 2000, 260:13-23.
88. Paulussen A., Lavrijsen K., Bohets H., Hendrickx J., Verhasselt P., Luyten W., Konings F., Armstrong M. Two linked mutations in transcriptional regulatory elements of the CYP3A5 gene constitute the major genetic determinant of polymorphic activity in humans. Pharmacogenetics 2000, 10:415-424.
89. Chou F.C., Tzeng S.J., Huang J.D. Genetic polymorphism of cytochrome P450 3A5 in Chinese. Drug Metab. Dispos. 2001, 29:1205-1209.
90. Relling M., Nemec J., Schuetz E., Schuetz J., Gonzalez F., Korzekwa K. O-Demethylation of epipododophyllotoxins is catalyzed by human cytochrome P450 3A4. Mol. Pharmacol. 1994, 45:352-358.
91. Ueng Y.-F., Kuwabara T., Chun Y.-J., Guengerich F.P. Cooperativity in oxidations catalyzed by cytochrome P450 3A4. Biochemistry 1997, 36:370-381.
92. Schuetz E.G., Schuetz J.D., Grogan W.M., Naray-Fejes-Toth A., Fejes-Toth G., Raucy J., Guzelian P., Gionela K., Watlington C.O. Expression of cytochrome P450 3A in amphibian, rat, and human kidney. Arch. Biochem. Biophys. 1992, 294:206-214.
93. Haehner B.D., Gorski J.C., VandenBranden M., Wrighton S.A., Janardan S.K., Watkins P.B., Hall S.D. Bimodal distribution of renal cytochrome P450 3A activity in humans. J. Pharmacol. Exp. Ther. 1996, 50:52-59.
94. Kivistö K.T., Griese E.-U., Fritz P., Linder A., Hakkola J., Raunio H., Beaune P., Kroemer H.K. Expression of cytochrome P450 3A enzymes in human lung: a combined RT-PCR and immunohistochemical analysis of normal and lung tumours. Naunyn-Schmiedeberg's Arch. Pharmacol. 1996, 353:207-212.
95. Yamakoshi Y., Kishimoto T., Sugimura K., Kawashima H. Human prostate CYP3A5: identification of a unique 5'-untranslated sequence and characterization of purified recombinant protein. Biochem. Biophys. Res. Commun. 1999, 260:676-681.
96. Huang Z., Fasco M.J., Figge H.L., Keyomarsi K., Kaminsky L.S. Expression of cytochromes P450 in human breast tissue and tumors. Drug Metab. Dispos. 1996, 24:899-905.
97. Janardan S.K., Lown K.S., Schmiedlin-Ren P., Thummel K.E., Watkins P.B. Selective expression of CYP3A5 and not CYP3A4 in human blood. Pharmacogenetics 1996, 6:379-385.
98. Grogan W.M., Phillips V.M., Schuetz E.G., Guzelian P.S., Watlington C.O. Corticosterone 6β-hydroxylase in A6 epithelia: a steroid-inducible cytochrome P-450. Am. J. Physiol. 1990, 258:C480-488.
99. Lee A.J., Mills L.H., Kosh J.W., Conney A.H., Zhu B.T. NADPH-dependent metabolism of estrone by human liver microsomes. J. Pharmacol. Exp. Ther. 2002, 300:838-849.
100. Lee A.J., Kosh J.W., Conney A.H., Zhu B.T. Characterization of the NADPH-dependent metabolism of 17β-estradiol to multiple metabolites by human liver microsomes and selectively expressed human cytochrome P450 3A4 and 3A5. J. Pharmacol. Exp. Ther. 2001, 298:420-432.
101. Huang Z., Guengerich F.P., Kaminsky L.S. 16α-Hydroxylation of estrone by human cytochrome P4503A4/5. Carcinogenesis 1998, 19:867-872.
102. Hanna I.H., Dawling S., Roodi N., Guengerich F.P., Parl F.F. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res. 2000, 60:3440-3444.
103. Newbold R.R., Liehr J.G. Induction of uterine adenocarcinoma in CD-1 mice by catechol estrogens. Cancer Res. 2000, 60:235-237.
104. Chang B., Zheng S., Hawkins G. Association between CYP3AP1 gene polymorphisms and the risk of hereditary prostate cancer. Am. J. Human Genet. 2001, 69:265.
105. Liu T.C., Lin S.F., Chen T.P., Chang J.G. Polymorphism analysis of CYP3A5 in myeloid leukemia. Oncol. Rep. 2002, 9:327-329.
106. Komori M., Nishio K., Ohi H., Kitada M., Kamataki T. Molecular cloning and sequence analysis of cDNA containing the entire coding region for human fetal liver cytochrome P-450. J. Biochem. 1989, 105:161-163.
107. Burk O., Tegude H., Koch I., Hustert E., Wolbold R., Glaeser H., Klein K., Fromm M.F., Nuessler A.K., Neuhaus P., Zanger U.M., Eichelbaum M., Wojnowski L. Molecular mechanisms of polymorphic CYP3A7 expression in adult human liver and intestine. J. Biol. Chem. 2002, 8:8.
108. Ring J.A., Ghabrial H., Ching M.S., Smallwood R.A., Morgan D.J. Fetal hepatic drug elimination. Pharmacol. Ther. 1999, 84:429-445.
109. Schuetz J.D., Kauma S., Guzelian P.S. Identification of the fetal liver cytochrome CYP3A7 in human endometrium and placenta. J. Clin. Invest. 1993, 92:1018-1024.
110. Finta C., Zaphiropoulos P.G. Intergenic mRNA molecules resulting from trans-splicing. J. Biol. Chem. 2002, 277:5882-5890.
111. Zhang J., Kuehl P., Green E.D., Touchman J.W., Watkins P.B., Daly A., Hall S.D., Maurel P., Relling M., Brimer C., Yasuda K., Wrighton S.A., Hancock M., Kim R.B., Strom S., Thummel K., Russell C.G., Hudson J.R., Schuetz E.G., Boguski M.S. The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants. Pharmacogenetics 2001, 11:555-572.
112. Springer J.E., Cole D.E., Rubin L.A., Cauch-Dudek K., Harewood L., Evrovski J., Peltekova V.D., Heathcote E.J. Vitamin D-receptor genotypes as independent genetic predictors of decreased bone mineral density in primary biliary cirrhosis. Gastroenterology 2000, 118:145-151.
113. Whitfield G.K., Remus L.S., Jurutka P.W., Zitzer H., Oza A.K., Dang H.T., Haussler C.A., Galligan M.A., Thatcher M.L., Encinas Dominguez C., Haussler M.R. Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol. Cell. Endocrinol. 2001, 177:145-159.
114. Jurutka P.W., Whitfield G.K., Hsieh J.C., Thompson P.D., Haussler C.A., Haussler M.R. Molecular nature of the vitamin D receptor and its role in regulation of gene expression. Rev. Endocrinol. Metab. Disord. 2001, 2:203-216.