Pharmacogenetics of the major polymorphic metabolizing enzymes

Fundamental and Clinical Pharmacology

Volumn 17, Issue 1, 2003, Pages 27-41

  Daly, A K ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Acetyltransferase; Cytochrome P450; Glutathione S transferase; Pharmacogenetics; Thiopurine methyltransferase; UDP glucuronosyltransferase

Indexed keywords

3,5 DIMETHYL 2 (3 PYRIDYL) 4 THIAZOLIDINONE; ACYLTRANSFERASE; ANTICOAGULANT AGENT; ANTICONVULSIVE AGENT; ANTINEOPLASTIC AGENT; CLOZAPINE; COUMARIN ANTICOAGULANT; CYTOCHROME P450; CYTOCHROME P450 1A1; CYTOCHROME P450 1A2; CYTOCHROME P450 1B1; CYTOCHROME P450 2A6; CYTOCHROME P450 2B6; CYTOCHROME P450 2C19; CYTOCHROME P450 2C8; CYTOCHROME P450 2C9; CYTOCHROME P450 2D6; CYTOCHROME P450 2E1; CYTOCHROME P450 3A4; ESTRADIOL; GLUCURONOSYLTRANSFERASE; GLUTATHIONE TRANSFERASE; NEUROLEPTIC AGENT; OLANZAPINE; PACLITAXEL; PHENOBARBITAL; POLYCYCLIC AROMATIC HYDROCARBON; STEROID; THIOPURINE METHYLTRANSFERASE; UNINDEXED DRUG;

DRUG METABOLISM; ENZYME ACTIVITY; ENZYME INDUCTION; ENZYME SUBSTRATE; ETHNIC GROUP; GENE FREQUENCY; GENETIC POLYMORPHISM; HUMAN; HUMAN GENOME; PHARMACOGENETICS; PRIORITY JOURNAL; RACE DIFFERENCE; REVIEW; STEROID METABOLISM; XENOBIOTIC METABOLISM;

CYTOCHROME P-450 ENZYME SYSTEM; ENZYMES; HUMANS; PHARMACOGENETICS; POLYMORPHISM, GENETIC; XENOBIOTICS;

EID: 0037328994     PISSN: 07673981     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1472-8206.2003.00119.x     Document Type: Review

References (139)

1. Roses A.D. Pharmacogenetics and the practice of medicine. Nature (2000) 405 857-865.
2. Kawajiri K., Nakachi K., Imai K., Yoshii A., Shinoda N., Watanabe J. Identification of genetically high risk individuals to lung cancer by DNA polymorphisms of the cytochrome P450IA1 gene. FEBS Lett. (1990) 263 131-133.
3. Song N., Tan W., Xing D.Y., Lin D.X. CYP 1A1 polymorphism and risk of lung cancer in relation to tobacco smoking: a case-control study in China. Carcinogenesis (2001) 22 11-16.
4. Zhang Z.Y., Fasco M.J., Huang L.L., Guengerich F.P., Kaminsky L.S. Characterization of purified human recombinant cytochrome P4501A1-Ile (462) and -Val (462). Assessment of a role for the rare allele in carcinogenesis. Cancer Res. (1996) 56 3926-3933.
5. Persson I., Johansson I., Ingelman Sundberg M. In vitro kinetics of two human CYP1A1 variant enzymes suggested to be associated with interindividual differences in cancer susceptibility. Biochem. Biophys. Res. Commun. (1997) 231 227-230.
6. Schwarz D., Kisselev P., Cascorbi I., Schunck W.-H., Roots I. Differential metabolism of benzo[a]pyrene and benzo[a]pyrene-7,8-dihydrodiol by human CYP1A1 variants. Carcinogenesis (2001) 22 453-459.
7. McLemore T.L., Adelberg S., Liu M.C. et al. Expression of CYP1A1 gene in patients with lung cancer: evidence for cigarette-smoke induced gene expression in normal lung tissue and for altered gene regulation in primary pulmonary carcinomas. Cancer Res. (1990) 82 1333-1339.
8. Bauer E., Guo Z., Ueng Y., Bell C., Zeldin D., Guengerich F.P. Oxidation of benzo[a]pyrene by recombinant human cytochrome P450 enzymes. Chem. Res. Toxicol. (1995) 8 136-142.
9. Kellermann G., Luyten-Kellermann M., Shaw C. Genetic variation of aryl hydrocarbon hydroxylase in human lymphocytes. Am. J. Hum. Genet. (1973) 25 327-331.
10. Nebert D., Gielen J. Genetic regulation of aryl hydrocarbon hydroxylase induction in the mouse. Fed. Proc. (1972) 31 1315-1325.
11. Kouri R.E., McKinney C.E., Slomiany D.J., Snodgrass D.R., Wray N.P., McLemore T.L. Positive correlation between high aryl hydrocarbon hydroxylase activity and primary lung cancer as analysed in cryopreserved lymphocytes. Cancer Res. (1982) 42 5030-5037.
12. Catteau A., Douriez E., Beaune P., Poisson N., Bonaitipellie C., Laurent P. Genetic polymorphism of induction of CYP1A1 (Erod) activity. Pharmacogenetics (1995) 5 110-119.
13. Smart J., Daly A.K. Variation in induced CYP1A1 levels: relationship to CYP1A1. Ah receptor and GSTM1 polymorphisms. Pharmacogenetics (2000) 10 11-24.
14. Cauchi S., Stucker I., Solas C. et al. Polymorphisms of human aryl hydrocarbon receptor (AhR) gene in a French population: relationship with CYP1A1 inducibility and lung cancer. Carcinogenesis (2001) 22 1819-1824.
15. Huang J.D., Guo W.C., Lai M.D., Guo Y.L., Lambert G.H. Detection of a novel cytochrome P-450 1A2 polymorphism (F21L) in Chinese. Drug Metab. Dispos. (1999) 27 98-101.
16. Nakajima M., Yokoi T., Mizutani M., Kinoshita M., Funayama M., Kamataki T. Genetic polymorphism in the 5′-flanking region of human CYP1A2 gene: effect on the CYP1A2 inducibility in humans. J. Biochem. (1999) 125 803-808.
17. Sachse C., Brochmoller J., Bauer S., Roots I. Functional significance of a C → A polymorphism in intron I of the cytochrome P450 CYP1A2 gene tested with caffeine. Br. J. Clin. Pharmacol. (1999) 47 445-449.
18. Stoilov I., Akarsu A.N., Alozie I. et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am. J. Hum. Genet. (1998) 62 573-584.
19. Bailey L.R., Roodi N., Dupont W.D., Parl F.F. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. Cancer Res. (1998) 58 5038-5041
20. McLellan R.A., Oscarson M., Hidestrand M. et al. Characterization and functional analysis of two common human cytochrome P4501B1 variants. Arch. Biochem. Biophys. (2000) 378 175-181.
21. Aklillu E., Oscarson M., Hidestrand M., Leidvik B., Otter C., Ingelman-Sundberg M. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol. Pharmacol. (2002) 61 586-594.
22. Shimada T., Watanabe J., Kawajiri K. et al. Catalytic properties of polymorphic human cytochrome P4501B1 variants. Carcinogenesis (1999) 20 1607-1613.
23. Hanna I.H., Dawling S., Roodi N., Guengerich F.P., Parl F.F. Cytochrome P4501B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res. (2000) 60 3440-3444.
24. Li D.N., Seidel A., Pritchard M.P., Wolf C.R., Friedberg T. Polymorphisms in P450CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol. Pharmacogenetics (2000) 10 343-353.
25. Raunio H., Rautio A., Gullsten H., Pelkonen O. Polymorphisms of CYP2A6 and its practical consequences. Br. J. Clin. Pharmacol. (2001) 52 357-363.
26. Rao Y.S., Hoffmann E., Zia M. et al. Duplications and defects in the CYP2A6 gene. Identification, genotyping, and in vivo effects on smoking. Mol. Pharmacol. (2000) 58 747-755.
27. Oscarson M., McLellan R.A., Gullsten H. et al. Identification and characterisation of novel polymorphisms in the CYP2A locus: implications for nicotine metabolism. FEBS Lett. (1999) 460 321-327.
28. Nunoya K., Yokoi T., Takahashi Y., Kimura K., Kinoshita M., Kamataki T. Homologous unequal cross-over within the human CYP2A gene cluster as a mechanism for the deletion of the entire CYP2A6 gene associated with the poor metabolizer phenotype. J. Biochem. (1999) 126 402-407.
29. Ariyoshi N., Takahashi Y., Miyamoto M. et al. Structural characterization of a new variant of the CYP2A6 gene (CYP2A6*1B) apparently diagnosed as heterozygotes of CYP2A6*1A and CYP2A6*4C. Pharmacogenetics (2000) 10 687-693.
30. Oscarson M., Gullsten H., Rautio A. et al. Genotyping of human cytochrome P450 2A6 (CYP2A6), a nicotine C-oxidase. FEBS Lett. (1998) 438 201-205.
31. Chen G.F., Tang Y.M., Green B. et al. Low frequency of CYP2A6 gene polymorphism as revealed by a one-step polymerase chain reaction method. Pharmacogenetics (1999) 9 327-332.
32. Miyamoto M., Umetsu Y., Dosaka-Akita H. et al. CYP2A6 gene deletion reduces susceptibility to lung cancer. Biochem. Biophys. Res. Commun. (1999) 261 658-660.
33. Tan W., Chen G.F., Xing D.Y., Song C.Y., Kadlubar F.F., Lin D.X. Frequency of CYP2A6 gene deletion and its relation to risk of lung and esophageal cancer in the Chinese population. Int. J. Cancer (2001) 95 96-101.
34. Loriot M.A., Rebuissou S., Oscarson M. et al. Genetic polymorphisms of cytochrome P450 2A6 in a case-control study on lung cancer in a French population. Pharmacogenetics (2001) 11 39-44.
35. Sabol S.Z., Hamer D.H. An improved assay shows no association between the CYP2A6 gene and cigarette smoking behavior. Behav. Genet. (1999) 29 257-261.
36. Code E.L., Crespi C.L., Penman B.W., Gonzalez F.J., Chang T.K.H., Waxman D.J. Human cytochrome P4502B6 - inter-individual hepatic expression, substrate specificity, and role in procarcinogen activation. Drug Metab. Dispos. (1997) 25 985-993.
37. Ekins S., Wrighton S.A. The role of CYP2B6 in human xenoblotic metabolism. Drug Metab. Rev. (1999) 31 719-754.
38. Lang T., Klein K., Fischer J. et al. Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver. Pharmacogenetics (2001) 11 399-415.
39. Ariyoshi N., Miyazaki M., Toide K., Sawamura Y., Kamataki T. A single nucleotide polymorphism of CYP2B6 found in Japanese enhances catalytic activity by autoactivation. Biochem. Biophys. Res. Commun. (2001) 281 1256-1260.
40. Kimura S., Pastewka J., Gelboin H.V., Gonzalez F.J. cDNA and amino acid sequences of 2 members of the human P450iic gene subfamily. Nucleic Acids Res. (1987) 15 10053-10054.
41. Okino S.T., Quattrochi L.C., Pendurthi U.R., McBride O.W., Tukey R.H. Characterization of multiple human cytochrome-P-450-1 cDNAs - the chromosomal localization of the gene and evidence for alternate RNA splicing. J. Biol. Chem. (1987) 262 16072-16079.
42. Ged C., Umbenhauer D.R., Bellew T.M. et al. Characterization of cDNAs, messenger-RNAs, and proteins related to human-liver microsomal cytochrome-P-450 (S)-mephenytoin 4′-hydroxylase. Biochemistry (1988) 27 6929-6940.
43. Goldstein J.A. Clinical relevance of genetic polymorphisms in the human CYP2C subfamily. Br. J. Clin. Pharmacol. (2001) 52 349-355.
44. Dai D., Zeldin D.C., Blaisdell J.A. et al. Polymorphisms in human CYP2C8 decrease metabolism of the anticancer drug paclitaxel and arachidonic acid. Pharmacogenetics (2001) 11 597-607.
45. Soyama A., Saito Y., Hanioka N. et al. Non-synonymous single nucleotide alterations found in the CYP2C8 gene result in reduced in vitro paclitaxel metabolism. Biol. Pharm. Bull. (2001) 24 1427-1430.
46. Bahadur N., Leathart J.B.S., Mutch E, et al. CYP2C8 polymorphisms in Caucasians and their relationship with paclitaxel 6a-hydroxylase activity in human liver microsomes, Biochem. Pharmacol. in press.
47. Lee C.R., Goldstein J.A., Pieper J.A. Cytochrome P4502C9 polymorphisms: a comprehensive review of the in-vitro and human data. Pharmacogenetics (2002) 12 251-263.
48. Kidd R.S., Curry T.B., Gallagher S., Edeki T., Blaisdell J., Goldstein J.A. Identification of a null allele of CYP2C9 in an African-American exhibiting toxicity to phenytoin. Pharmacogenetics (2001) 11 803-808.
49. Aithal G.P., Day C.P., Kesteven P.J.L., Daly A.K. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet (1999) 353 717-719.
50. Scordo M.G., Aklillu E., Yasar U., Dahl M.L., Spina E., Ingelman-Sundberg M. Genetic polymorphism of cytochrome P4502C9 in a Caucasian and a black African population. Br. J. Clin. Pharmacol. (2001) 52 447-450.
51. Taube J., Halsall D., Baglin T. Influence of cytochrome P-450CYP2C9 polymorphisms on warfarin sensitivity and risk of over-anticoagulation in patients on long-term treatment. Blood (2000) 96 1816-1819.
52. Higashi M.K., Veenstra D.L., Kondo L.M.L. et al. Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy. J. Am. Med. Assoc. (2002) 287 1690-1698.
53. Shintani M., Ieiri I., Inoue K. et al. Genetic polymorphisms and functional characterization of the 5′-flanking region of the human CYP2C9 gene: in vitro and in vivo studies. Clin. Pharmacol. Ther. (2001) 70 175-182.
54. Leung A.Y.H., Chow H.C.H., Kwong Y.L. et al. Genetic polymorphism in exon 4 of cytochrome P450CYP2C9 may be associated with warfarin sensitivity in Chinese patients. Blood (2001) 98 2584-2587.
55. Furuta T., Ohashi K., Kamata T. et al. Effect of genetic differences in omeprazole metabolism on cure rates for Helicobacter pylori infection and peptic ulcer. Ann. Intern. Med. (1998) 129 1027-1030.
56. Kaneko A., Lum J.K., Yaviong J. et al. High and variable frequencies of CYP2C19 mutations: medical consequences of poor drug metabolism in Vanuatu and other Pacific islands. Pharmacogenetics (1999) 9 581-590.
57. Skjelbo E., Mutabingwa T.K., Bygbjerg I., Nielsen K.K., Gram L.F., Brosen K. Chloroguanide metabolism in relation to the efficacy in malaria prophylaxis and the S-mephenytoin oxidation in Tanzanians. Clin. Pharmacol. Ther. (1996) 59 304-311.
58. Komai K., Sumida K., Kaneko H., Nakatsuka I. Identification of a new non-functional CYP2C18 allele in Japanese. Substitution of T204 to A in exon2 generates a premature stop codon. Pharmacogenetics (1996) 6 117-119.
59. Iwahashi K., Okuyama E., Furukawa A. et al. Novel 2-point linked mutations in the 5′-flanking region of human CYP2C18. Clin. Chim. Acta (1996) 252 197-199.
60. Kubota T., Hibi N., Chiba K. Linkage of mutant alleles of CYP2C18 and CYP2C19 in a Japanese population. Biochem. Pharmacol. (1998) 55 2039-2042.
61. Sachse C., Brockmoller J., Bauer S., Roots I. Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am. J. Hum. Genet. (1997) 60 284-295.
62. Leathart J.B.S., London S.J., Adams J.D., Idle J.R., Daly A.K. CYP2D6 phenotype-genotype relationships in African-Americans and Caucasians. Pharmacogenetics (1998) 8 529-542.
63. Johansson I., Oscarson M., Yue Q.-Y., Bertilsson L., Sjoqvist F., Ingelman-Sundberg M. Genetic analysis of the Chinese cytochrome P4502D locus: characterization of variant CYP2D6 genes present in subjects with diminished capacity for debrisoquine hydroxylation. Mol. Pharmacol. (1994) 46 452-259.
64. Oscarson M., Hidestrand M., Johansson I., Ingelman-Sundberg M. A combination of mutations in the CYP2D6*17 (CYP2D6Z) allele causes alterations in enzyme function. Mol. Pharmacol. (1997) 52 1034-1040.
65. Johansson I., Lundqvist E., Bertilsson L., Dahl M.-L., Sjoqvist F., Ingelman-Sundberg M. 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 (1993) 90 11825-11829.
66. Dahl M.L., Johansson I., Bertilsson L., Ingelmansundberg M., Sjoqvist F. Ultrarapid hydroxylation of debrisoquine in a Swedish Population - analysis of the molecular-genetic basis. J. Pharmacol. Exp. Ther. (1995) 274 516-520.
67. Lovlie R., Daly A.K., Molven A., Idle J.R., Steen V.M. Ultrarapid metabolizers of debrisoquine: characterization and PCR-based detection of alleles with duplication of the CYP2D6 gene. FEBS Lett. (1996) 392 30-34.
68. Aklillu E., Persson I., Bertilsson L., Johansson I., Rodrigues F., Ingelman-Sundberg M. Frequent distribution of ultrarapid metabolizers of debrisoquine in an Ethiopian population carrying duplicated and multiduplicated functional CYP2D6 alleles. J. Pharmacol. Exp. Ther. (1996) 278 441-446.
69. Zanger U.M., Fischer J., Raimundo S. et al. Comprehensive analysis of the genetic factors determining expression and function of hepatic CYP2D6. Pharmacogenetics (2001) 11 573-585.
70. Raimundo S., Fischer R., Eichelbaum M., Griese E.U., Schwab M., Zanger U.M. Elucidation of the genetic basis of the common 'intermediate metabolizer' phenotype for drug oxidation by CYP2D6. Pharmacogenetics (2000) 10 577-581.
71. Lovlie R., Daly A.K., Matre G.E., Molven A., Steen V.M. Polymorphisms in CYP2D6 duplication-negative individuals with the ultrarapid metabolizer phenotype: a ole for the CYP2D6*35 allele in ultrarapid metabolism? Pharmacogenetics (2001) 11 45-55.
72. Bertilsson L., Dahl M.L., Dalen P., Al-Shurbaji A. Molecular genetics of CYP2D6: clinical relevance with focus on psychotropic drugs. Br. J. Clin. Pharmacol. (2002) 53 111-122.
73. Sindrup S., Brosen K., Bjerring K. et al. Codeine increases pain thresholds to copper vapor laser stimuli in extensive but not poor metabolizers of sparteine. Clin. Pharmacol. Ther. (1991) 49 686-693.
74. Persson K., Sjostrom S., Sigurdardottir I., Molnar V., Hammarlundudenaes M., Rane A. Patient-controlled analgesia (PCA) with codeine for postoperative pain relief in 10 extensive metabolizers and one poor metabolizer of dextromethorphan. Br. J. Clin. Pharmacol. (1995) 39 182-186.
75. Bertilsson L., Dahl M.-L., Sjoqvist F. et al. Molecular basis for rational megaprescribing in ultrarapid hydroxylators of debrisoquine. Lancet (1993) 341 63.
76. Chen S.Q., Chou W.H., Blouin R.A. et al. The cytochrome P450 2D6 (CYP2D6) enzyme polymorphism: screening costs and influence on clinical outcomes in psychiatry. Clin. Pharmacol. Ther. (1996) 60 522-534.
77. Guengerich F.P., Kim D.-H., Iwasaki M. Role of human cytochrome P-450 IIE1 in the oxidation of many low molecular weight cancer suspects. Chem. Res. Toxicol. (1991) 4 168-179.
78. Patten C.J., Thomas P.E., Guy R.L. et al. Cytochrome P450 enzymes involved in acetaminophen activation by rat and human liver microsomes and their kinetics. Chem. Res. Toxicol. (1993) 6 511-518.
79. Kim R.B., O'Shea D., Wilkinson G.R. Interindividual variability of chlorzoxazone 6-hydroxylation in men and women and its relationship to CYP2E1 genetic polymorphisms. Clin. Pharmacol. Ther. (1995) 57 645-655.
80. Hu Y., Oscarson M., Johansson I et al. Genetic polymorphism of human CYP2E1: characterization of two variant alleles. Mol. Pharmacol. (1997) 51 370-376.
81. Fairbrother K.S., Grove J., de Waziers I. et al. Detection and characterization of novel polymorphisms in the CYP2E1 gene. Pharmacogenetics (1998) 8 543-552.
82. Hayashi S., Watanabe J., Kawagiri K. Genetic polymorphisms in the 5′-flanking region change transcriptional regulation of the human cytochrome P450IIE1 gene. J. Biochem. (1991) 110 559-565.
83. Kato S., Shields P.G., Caporaso N.E. et al. Cytochrome P450IIE1 genetic polymorphisms, racial variation, and lung cancer risk. Cancer Res. (1992) 52 6712-6715.
84. Hildesheim A., Anderson L.M., Chen C.J. et al. CYP2E1 genetic polymorphisms and risk of nasopharyngeal carcinoma in Taiwan. J. Natl Cancer Inst. (1997) 89 1207-1212.
85. Pirmohamed M., Kitteringham N.R., Quest L.J. et al. Genetic polymorphism of cytochrome P4502E1 and risk of alcoholic liver disease in Caucasians. Pharmacogenetics (1995) 5 351-357.
86. Grove J., Brown A.S.M., Daly A.K., Bassendine M.F., James O.F.W., Day C.P. The RsaI polymorphism of CYP2E1 and susceptibility to alcoholic liver disease in Caucasians: effect on age of presentation and dependence on alcohol dehydrogenase genotype. Pharmacogenetics (1998) 8 335-342.
87. Guengerich F.P., Shimada T. Oxidation of toxic and carcinogenic chemicals by human cytochrome P450 enzymes. Chem. Res. Toxicol. (1991) 4 391-407.
88. Aoyama T., Yamano S., Waxman D.J. et al. Cytochrome P450 hPCN3, a novel cytochrome P450 IIA a product that is differentially expressed in adult human liver. J. Biol. Chem. (1989) 264 10388-10395.
89. Gillam E.M.J., Guo Z., Ueng Y.-F. et al. Expression of cytochrome P450 3A5 in Escherichia coli effects of 5′ modification, purification, reconstitution conditions, and catalytic activities. Arch. Biochem. Biophys. (1995) 317 374-384.
90. 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.
91. Westlind A., Malmebo S., Johansson I. et al. Cloning and tissue distribution of a novel human cytochrome P450 of the CYP3A subfamily, CYP3A43. Biochem. Biophys. Res. Commun. (2001) 281 1349-1355.
92. Gellner K., Eiselt R., Hustert E. et al. Genomic organization of the human CYP3A locus: identification of a new, inducible CYP3A gene. Pharmacogenetics (2001) 11 111-121.
93. 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.
94. Sata F., Sapone A., Elizondo G. et al. 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.
95. Hsieh K.P., Lin Y.Y., Cheng C.L. et al. Novel mutations of CYP3A4 in Chinese. Drug Metab. Dispos. (2001) 29 268-273.
96. Hustert E., Haberl M., Burk O. et al. The genetic determinants of the CYP3A5 polymorphism. Pharmacogenetics (2001) 11 773-779.
97. 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) 299 825-831.
98. Lamba J.K., Lin Y.S., Thummel K. et al. Common allelic variants of cytochrome P4503A4 and their prevalence in different populations. Pharmacogenetics (2002) 12 121-132.
99. 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.
100. 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.
101. 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.
102. Zhang J., Kuehl P., Green E.D. et al. The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants. Pharmacogenetics (2001) 11 555-572.
103. Kuehl P., Zhang J., Lin Y. et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nature Genet. (2001) 27 383-391.
104. Seidegard J., Vorachek W.R., Pero R.W., Pearson W.R. Hereditary differences in the expression of the human glutathione S-transferase active on trans-stilbene oxide are due to a gene deletion. Proc. Natl Acad. Sci. USA (1988) 85 7293-7297.
105. Pemble S., Schroeder K.R., Spencer S.R. et al. Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism. Biochem. J. (1994) 300 271-276.
106. Inskip A., Elexperu-Camiruaga J., Buxton A. et al. Identification of polymorphism at the glutathione S-transferase, GSTM3 locus: evidence for linkage with GSTM1*A. Biochem. J. (1995) 312 713-716.
107. Ali Osman F., Akande O., Antoun G., Mao J.X., Buolamwini J. Molecular cloning, characterization, and expression in Escherichia coli of full-length cDNAs of three human glutathione S-transferase Pi gene variants - evidence for differential catalytic activity of the encoded proteins. J. Biol. Chem. (1997) 272 10004-10012.
108. Coles B.F., Morel F., Ranch C. et al. Effect of polymorphism in the human glutathione S-transferase A1 promoter on hepatic GSTA1 and GSTA2 expression. Pharmacogenetics (2001) 11 663-669.
109. Widersten M., Pearson W.R., Engstrom A., Mannervik B. Heterologous expression of the allelic variant mu-class glutathione transferases mu and psi. Biochem. J. (1991) 276 519-524.
110. Smith M.T., Evans C.G., Doane-Setzer P., Castro V.M., Tahir M.K., Mannervik B. Denitrosation of 1,3-bis (2-chlorethyl)-1-nitrosourea by class μ glutathione transferases and its role in cellular resistance in rat brain tumor cells. Cancer Res. (1989) 49 2621-2625.
111. Evans C.G., Bodell W.J., Ross D., Doane P., Smith M.T. Role of glutathione and related enzymes in brain tumor resistance to BCNU and nitrogen mustard. Proc. Am. Assoc. Cancer Res. (1986) 37 267.
112. Evans D.A.P. N-acetyltransferase. Pharmacol. Ther. (1989) 42 157-234.
113. Hirvonen A., Polymorphic NATs and cancer predisposition, in: Vineis P. et al. (Eds.), Metabolic polymorphisms and susceptibility to cancer, International Agency for Research on Cancer. Lyon, 1999, pp. 251-270.
114. Cribb A.E., Isbrucker R., Levatte T., Tsui B., Gillespie C.T., Renton K.W. Acetylator phenotyping: the urinary caffeine metabolite ratio in slow acetylators correlates with a marker of systemic NAT1 activity. Pharmacogenetics (1994) 4 166-170.
115. Grant D.M., Hughes N.C., Janezic S.A. et al. Human acetyltransferase polymorphisms. Mutat. Res. (1997) 376 61-70.
116. Hughes N.C., Janezic S.A., McQueen K.L. et al. Identification and characterization of variant alleles of human acetyltransferase NAT1 with defective function using p-aminosalicylate as an in-vivo and in-vitro probe. Pharmacogenetics (1998) 8 55-66.
117. Butcher N.J., Ilett K.F., Minchin R.F. Functional polymorphism of the human arylamine N-acetyltransferase type 1 gene caused by (CT)-T-190 and G(560)A mutations. Pharmacogenetics (1998) 8 67-72.
118. Weinshilboum R. Methyltransferase pharmacogenetics. Pharmacol. Ther. (1989) 43 77-90.
119. Weinshilboum R., Sladek S.L. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am. J. Hum. Genet. (1980) 32 651-662.
120. Collie-Duguid E.S.R., Pritchard S.C., Powrie R.H. et al. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics (1999) 9 37-42.
121. Lennard L., Gibson B.E.S., Nicole T., Lilleyman J.S. Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukemia. Arch. Dis. Child. (1993) 69 577-579.
122. Krynetski E.Y., Schuetz J.D., Galpin A.J., Pui C.-H., Relling M.V., Evans W.E. A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc. Natl Acad. Sci. USA (1995) 92 949-953.
123. Tai H.-L., Krynetski E.Y., Yates C.R. et al. Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am. J. Hum. Genet. (1996) 58 694-702.
124. Szumlanski C., Otterness D., Her C. et al. Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol. (1996) 15 17-30.
125. Relling M.V., Hancock M.L., Rivera G.K. et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J. Natl Cancer Inst. (1999) 91 2001-2008.
126. Relling M.V., Rubnitz J.E., Rivera G.K. et al. High incidence of secondary brain tumours after radiotherapy and antimetabolites. Lancet (1999) 354 34-39.
127. Aono S., Adachi Y., Uyama E. et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet (1995) 345 958-959.
128. Monaghan G., Ryan M., Seddon R., Hume R., Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet (1996) 347 578-581.
129. Macklon A.F., Savage R.L., Rawlins M.D. Gilbert syndrome and drug metabolism. Clin. Pharmacokinet. (1979) 4 223-232.
130. de Morais S.M., Uetrecht J.P., Wells P.G. Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome. Gastroenterology (1992) 102 577-586.
131. Iyer L., King C.D., Whitington P.F. et al. Genetic predisposition to the metabolism of irinotecan (CPT-11) - role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes. J. Clin. Invest. (1998) 101 847-854.
132. Ciotti M., Marrone A., Potter C., Owens LS. Genetic polymorphism in the human UGT1A6 (planar phenol) UDP-glucuronosyltransferase: pharmacological implications. Pharmacogenetics (1997) 7 485-495.
133. Guillemette C., Ritter J.K., Auyeung D.J., Kessler F.K., Housman D.E. Structural heterogeneity at the UDP-glucuronosyltransferase 1 locus: functional consequences of three novel missense mutations in the human UGT1A7 gene. Pharmacogenetics (2000) 10 629-644.
134. Levesque B., Beaulieu M., Hum D.W., Belanger A. Characterization and substrate specificity of UGT2B4 (E-458): a UDP-glucuronosyltransferase encoded by a polymorphic gene. Pharmacogenetics (1999) 9 207-216.
135. Coffman B.L., King C.D., Rios G.R., Tephly T.R. The glucuronidation of opioids, other xenobiotics, and androgens by human UGT2B7Y(268) UGT2B7H(268). Drug Metab. Dispos. (1998) 26 73-77.
136. Levesque E., Beaulieu M., Green M.D., Tephly T.R., Belanger A., Hum D.W. Isolation and characterization of UGT2B15(Y-85): a UDP-glucuronosyltransferase encoded by a polymorphic gene. Pharmacogenetics (1997) 7 317-325.
137. Zheng Z., Park J.Y., Guillemette C., Schantz S.P., Lazarus P. Tobacco carcinogen-detoxifying enzyme UGT1A7 and its association with orolaryngeal cancer risk. J. Natl Cancer Inst. (2001) 93 1411-1418.
138. Nagata K., Yamazoe Y. Pharmacogenetics of sulfotransferase. Annu. Rev. Pharmacol. Toxicol. (2000) 40 159-176.
139. Freimuth R.R., Eckloff B., Wieben E.D., Weinshilboum R.M. Human sulfotransferase SULT1C1 pharmacogenetics: gene resequencing and functional genomic studies. Pharmacogenetics 11 (2001) 747-756.