Genetic polymorphisms in human xenobiotica metabolizing enzymes as susceptibility factors in toxic response

Mutation Research - Genetic Toxicology and Environmental Mutagenesis

Volumn 464, Issue 1, 2000, Pages 65-76

  Autrup, Herman ^a  

^a AARHUS UNIVERSITY   (Denmark)

Author keywords

Cancer; Cytochrome P450; DNA adducts; Glutathione S transferase; N acetyltransferase

Indexed keywords

3 METHYLCHOLANTHRENE; ACYLTRANSFERASE; CYTOCHROME P450; DEBRISOQUINE 4 HYDROXYLASE; DIMETHYLNITROSAMINE DEMETHYLASE; ETHOXYRESORUFIN DEETHYLASE; GLUTATHIONE TRANSFERASE; PHENACETIN O DEETHYLASE; PROTEIN P53; UNSPECIFIC MONOOXYGENASE;

CARCINOGENICITY; CHROMOSOME ABERRATION; CONFERENCE PAPER; DNA BINDING; DRUG ACTIVATION; DRUG DETOXIFICATION; DRUG SENSITIVITY; ENZYME ACTIVITY; ENZYME INDUCTION; ETHNIC DIFFERENCE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; ONCOGENE K RAS; PRIORITY JOURNAL; RISK FACTOR; TUMOR SUPPRESSOR GENE; XENOBIOTIC METABOLISM;

ARYLAMINE N-ACETYLTRANSFERASE; BIOTRANSFORMATION; CARCINOGENS; CYTOCHROME P-450 ENZYME SYSTEM; ENZYMES; GENETIC PREDISPOSITION TO DISEASE; GLUTATHIONE TRANSFERASE; HUMANS; NEOPLASMS; POLYMORPHISM, GENETIC; XENOBIOTICS;

EID: 0033985346     PISSN: 13835718     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5718(99)00167-9     Document Type: Conference Paper

References (70)

1. Autrup H. Carcinogen metabolism in cultured human tissues and cells. Carcinogenesis. 11:1990;707-712.
2. McLemore T.L., Martin R.R., Busbee D.L., Richie R.C., Springer R.R., Toppell K.L., Cantrell E.T. Aryl hydrocarbon hydroxylase activity in pulmonary macropahges and lymphocytes from lung cancer and non-cancer patients. Cancer Res. 37:1977;1175-1182.
3. 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. 231:1997;227-230.
4. Kiyohara C., Nakanishi Y., Inutsuka S., Takayama K., Hara N., Motohiro A., Tanaka K., Kono S., Hirohata T. The relationship between CYP1A1 aryl hydrocarbon hydrolase activity and lung cancer in a Japanese population. Pharmacogenetics. 8:1998;315-323.
5. Marchand L.L., Sivaraman L., Pierce L., Sigfried A., Lum A., Wilkins L.R., Lau A.F. Associations of CYP1A1, GSTM1, and CYP2E1 polymorphisms with lung cancer suggest cell type specificities to tobacco carcinogens. Cancer Res. 58:1998;4858-4863.
6. Fontana X., Peyrottes I., Rossi C., Leblanc-Talent P., Ettore F., Namer M., Bussiere F. Study of the frequencies of CYP1A1 gene polymorphisms and glutathione S-transferase mu1 gene in primary breast cancer: an update with an additional 114 cases. Mutat. Res. 403:1998;45-53.
7. Ishibe N., Hankinson S.E., Colditz G.A., Spiegelman D., Willett W.C., Speizer F.E., Kelsey K.T., Hunter D.J. Cigarette smoking, cytochrome P4501A1 polymorphisms, and breast cancer risk in the nurses' health study. Cancer Res. 58:1998;667-671.
8. Rojas M., Alexandrov K., Cascorbi I., Brockmöller J.et al. High benzo(a)pyrene diol-epoxide DNA adduct levels in lung and blood cells from individuals with combined CYP1A1 Msp/MspI-GSTM1*0/*0 genotypes. Pharmacogenetics. 8:1998;109-118.
9. Hemminki K., Dickey C., Karlsson S., Bell D., Hsu Y., Tsai W.-Y., Mooney L.A., Savela K., Perera F.P. Aromatic DNA adducts in foundry workers in relation to exposure, life style and CYP1A1 and glutathione transferase M1 genotype. Carcinogenesis. 18:1997;345-350.
10. Butkiewicz D., Grzybowska E., Hemminki K., Øvrebø S., Haugen Aa., Motykiewicz G., Chorazy M. Modulation of DNA adduct levels in human mononuclear white blood cells and granulocytes by CYP1A1, CYP2D6 and GSTM1 genetic polymorphism. Mutat. Res. 415:1998;97-108.
11. Mooney L.A., Bell D.A., Santella R.M., van-Bennekum A.M., Ottman R., Paik M., Blaneer W.S., Lucier G.W., Covey L., Young T.L., Cooper T.B., Glassman A.H., Perera F.P. Contribution of genetic and nutritional factors to DNA damage in heavy smokers. Carcinogenesis. 18:1997;503-509.
12. Whyatt R.M., Bell D.A., Jedrychowski W., Santella R.M., Garte S.J., Cosma G., Manchester D.K., Young T.L., Cooper T.B., Ottman R., Perera F.P. Polycyclic aromatic hydrocarbon-DNA adducts in human placenta and modulation by CYP1A1 induction and genotype. Carcinogenesis. 19:1998;1389-1392.
13. Wu M.-T., Huang S.-L., Ho C.-K., Ye Y.-F., Christiani D.C. Cytochrome P450 1A1 MspI polymorphism and urinary 1-hydroxypyrene concentrations in coke-oven workers. Cancer Epidemiol., Biomarkers Prev. 7:1998;823-829.
14. Kawajiri K., Eguchi H., Nakachi K., Sekiya T., Yamamoto M. Association of CYP1A1 germ line polymorphisms with mutations of the p53 gene in lung cancer. Cancer Res. 56:1996;72-76.
15. Ohshima S., Xu Y. p53 gene mutations, and CYP1A1 and GSTM1 genotypes in pulmonary squamous cell carcinomas. Mol. Pathol. 50:1997;108-110.
16. Rebbeck T.R., Godwin A.K., Buetow K.H. Variability in loss of constitutional heterozygosity across loci and among individuals: association with candidate genes in ductal breast carcinoma. Mol. Carcinog. 17:1996;117-125.
17. Landi M.T., Zocchetti C., Bernucci I., Kadlubar F.F., Tannembaum S., Skipper P., Bartsch H., Malaveille C., Shields P., Caporaso N.E., Vineis P. Cytochrome P4501A2: enzyme induction and genetic control in determining 4-aminobiphenyl-hemoglobin adduct levels. Cancer Epidemiol., Biomarkers Prev. 5:1996;693-698.
18. 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. 58:1998;5038-5041.
19. Wu X., Shi H.J., Hong B.K.W.K., Delclos G.L., Spitz M.R. Association between cytochrome P4502E1 genotype, mutagen sensitivity, cigarette smoking and susceptibility to lung cancer. Carcinogenesis. 18:1997;967-973.
20. Rothman N., Smith M.T., Hayes R.B., Traver R.D.et al. Benzene poisoning, a risk factor for hematological malignancy, is associated with the NQO1 609C-T mutation and rapid fractional excretion of chlorzoxazone. Cancer Res. 57:1997;2839-2842.
21. d'Errico A., Taioli E., Chen X., Vineis P. Genetic metabolic polymorphisms and the risk of cancer: a review of the literature. Biomarkers. 1:1996;149-173.
22. Jourenkova N., Reinikainen M., Bouchardy C., Dayer P.et al. Larynx cancer risk in relationship to glutathione S-transferase M1 and T1 genotypes and tobacco smoking. Cancer Epidemiol., Biomarkers Prev. 7:1998;19-23.
23. Motykiewicz G., Michalska J., Pendzich J., Malusecka E.et al. A molecular epidemiological study in women from Upper Silesia, Poland. Toxicol. Lett. 97:1998;195-202.
24. Topinka J., Binková B., Mracková G., Stávková Z.et al. DNA adducts in human placenta as related to air pollution and to GSTM1 genotype. Mutat. Res. 390:1997;59-68.
25. H. Autrup, B. Daneshvar, L.O. Dragsted, M. Gamborg et al., Biomarkers for exposure to ambient air pollution - comparison of carcinogen-DNA adduct levels with other exposure markers and markers for oxidative stress, Environ. Health Perspect. (1999) in press.
26. Ryberg D., Skaug V., Hewer A., Phillips D.H.et al. Genotypes of glutathione transferase M1 and P1 and their significance for lung DNA adduct levels and cancer risk. Carcinogenesis. 18:1997;1285-1289.
27. McGlynn K.A., Rosvold E.A., Lustbader E.D., Hu Y., Clapper M.L., Zhou T. Susceptibility to hepatocellular carcinoma is associated with genetic variation in the enzymatic detoxification of aflatoxin B1. Proc. Natl. Acad. Sci. U. S. A. 92:1995;2384-2387.
28. Scarpato R., Migliore L., Hirvonen A., Falck G., Norppa H. Cytogenetic monitoring of occupational exposure to pesticides: characterization of GSTM1, GSTT1 and NAT2 genotypes. Environ. Mol. Mutagen. 27:1996;263-269.
29. Rothman N., Hayes R.B., Zenser Z.V., DeMarini D.M.et al. The glutathione S-transferase M1(GSTM1) null genotype and benzidine-associated bladder cancer, urine mutagenicity, and exfoliated urothelial cell DNA adducts. Cancer Epidemiol., Biomarkers Prev. 5:1996;979-983.
30. Norppa H. Cytogenetic markers of susceptibility: influence of polymorphic carcinogen-metabolizing enzymes. Environ. Health Perspect. 105:1997;829-835. Suppl. 4.
31. Lazarus P., Sheikh S.N., Ren Q., Schantz S.P.et al. p53, but not p16 mutations in oral squamous cell carcinomas are associated with specific CYP1A1 and GSTM1 polymorphic genotypes and patient tobacco use. Carcinogenesis. 19:1998;509-514.
32. Brockmoller J., Kaiser R., Kerb R., Cascorbi I., Jaeger V., Roots I. Polymorphic enzymes of xenobiotic metabolism as modulators of acquired p53 mutations in bladder cancer. Pharmacogenetics. 6:1996;535-545.
33. Ryberg D., Kure E., Lystad S., Skaug V.et al. p53 mutations in lung tumors: relationship to putative susceptibility markers for cancer. Cancer Res. 54:1994;1551-1555.
34. Thier R., Pemble S.E., Kramer H., Taylor J.B., Taylor F.P.et al. Human glutathione S-transferase T1-1 enhances mutagenicity of 1,2-dibromoethane, dibromomethane and 1,2,3,4-diepoxybutane in Salmonella typhimurium. Carcinogenesis. 17:1996;163-166.
35. Bernardini S., Hirvonen A., Pelin K., Norppa H. Induction of sister chromatid exchange by 1,2-epoxy-3-butene in cultured human lymphocytes: influence of GSTT1 genotype. Carcinogenesis. 19:1998;377-380.
36. Sorsa M., Osterman-Golkar S., Peltonen K., Saarikoski S.T., Sram R. Assessment of exposure to butadiene in the process industry. Toxicology. 113:1996;77-83.
37. el-Zein R., Conforti-Froes N., Au W.W. Interaction between genetic predisposition and environmental toxicants for development of lung cancer. Environ. Mol. Mutagen. 30:1997;196-204.
38. Huang C.-Y., Huang K.-L., Cheng T.-J., Wang J.-D., Hsieh L.-L. The GSTT1 and CYP2E1 genotypes are possible factors causing vinyl chloride induced abnormal liver function. Arch. Toxicol. 71:1997;482-488.
39. Xu X., Wiencke J.K., Niu T., Wang M.et al. Benzene exposure, glutathione S-transferase theta homozygous deletion and sister chromatid exchanges. Am. J. Ind. Med. 33:1998;157-163.
40. Garnier R., Rambourg-Schepens M.O., Muller A., Hallier E. Glutathione transferase activity and formation of macromolecular adducts in two cases of acute methyl bromide poisoning. Occup. Environ. Med. 53:1996;211-215.
41. Hu X., Ji X., Srivastava S.K., Xia H.et al. Mechanism of differential catalytic efficiency of the two polymorphic forms of the human glutathione S-transferase P1-1 in the glutathione conjugation of carcinogenic diol epoxide of chrysene. Arch. Biochem. Biophys. 345:1997;32-38.
42. Sundberg K., Johansson A.-S., Stenberg G., Widersten M.et al. Differences in the catalytic efficiencies of allelic variants of glutathione transferase P1-1 towards carcinogenic diol epoxides of polycyclic aromatic hydrocarbons. Carcinogenesis. 19:1998;433-436.
43. Matthias C., Bockmühl U., Jahnke V., Harries L.W.et al. The glutathione S-transferase GSTP1 polymorphism: effect on susceptibility to oral/pharyngeal and laryngeal carcinomas. Pharmacogenetics. 8:1998;1-6.
44. Smelt V.A., Mardon H.J., Sim E. Placental expression of arylamine N-acetyltransferases: evidence for linkage disequilibrium between NAT1*10 and NAT2*4 alleles of the two human arylamine N-acetyltransferase loci NAT1 and NAT2. Pharmacol. Toxicol. 83:1998;149-157.
45. Jones R.F., Land S.J., King C.M. Recombinant rat and hamster N-acetyltransferases-1 and -2: relative rates of N-acetylation or arylamines and N,O-acyltransfer with arylhydroxamic acids. Carcinogenesis. 17:1996;1729-1733.
46. Rothman N., Bhatnagar V.K., Hayes R.B., Zenser T.V.et al. The impact of interindividual variation in NAT2 activity on benzidine urinary metabolites and urothelial DNA adducts in exposed workers. Proc. Natl. Acad. Sci. U. S. A. 93:1996;5084-5089.
47. Badawi A.F., Hirvonen A., Bell D.A., Lang N.P., Kadlubar F.F. Role of aromatic amine acetyltransferases, NAT1 and NAT2, in carcinogen-DNA adduct formation in the human urinary bladder. Cancer Res. 55:1995;5230-5237.
48. Badawi A.F., Stern S.J., Lang N.P., Kadlubar F.F. Cytochrome P-450 and acetyltransferase expression as biomarkers of carcinogen-DNA adduct levels and human cancer susceptibility. Prog. Clin. Biol. Res. 395:1996;109-140.
49. Bouchardy C., Mitrunen K., Wikman H., Husgafvel-Pursiainen K.et al. A-acetyltransferase NAT1 and NAT2 genotypes and lung cancer risk. Pharmacogenetics. 8:1998;291-298.
50. Nyberg F., Hou S.-M., Hemminki K., Lambert B., Pershagen G. Glutathione S-transferase M1 and N-acetyltransferase 2 genetic polymorphisms and exposure to tobacco smoke in nonsmoking and smoking lung cancer patients and population controls. Cancer Epidemiol., Biomarkers Prev. 7:1998;875-883.
51. Pfau W., Stone E.M., Brockstedt U., Carmichael P.L., Marquardt H., Phillips D.H. DNA adducts in human breast tissue: association with N-acetyltransferase-2 (NAT2) and NAT1 genotypes. Cancer Epidemiol., Biomarkers Prev. 7:1998;1019-1025.
52. Taylor J.A., Umbach D.M., Stephens E., Castranio T.et al. The role of N-acetylation polymorphisms in smoking-associated bladder cancer: evidence of a gene-gene-exposure three-way interaction. Cancer Res. 58:1998;3603-3610.
53. Vineis P., Bartsch H., Caporaso N., Harrington A.M.et al. Genetically based N-acetyltransferase metabolic polymorphism and low-level environmental exposure to carcinogens. Nature. 369:1994;154-156.
54. Josephy P.D., Evans D.H., Parikh A., Guengerich F.P. Metabolic activation of aromatic amine mutagens by simultaneous expression of human cytochrome P450 1A2, NAPH-cytochrome P450 reductase, and N-acetyltransferase in E. coli. Chem. Res. Toxicol. 11:1998;70-74.
55. Dallinga J.W., Pachen D.M.F.A., Wijnhoven S.W.P., Breedijk A., van't Veer L., Wigbout G., van Zandwijk N., Maas L.M., van Agen E., Kleinjans J.C.S., van Schooten F.-J. The use of 4-aminobiphenyl hemoglobin adducts and aromatic DNA adducts in lymphocytes of smokers as biomarkers of exposure. Cancer Epidemiol., Biomarkers Prev. 7:1998;571-577.
56. Peluso M., Airoldi L., Armelle M., Martone T., Coda R., Malaveille C., Giacomelli G., Terrone C., Casetta G., Vineis P. White blood cell DNA adducts, smoking, and NAT2 and GSTM1 genotypes in bladder cancer: a case-control study. Cancer Epidemiol., Biomarkers Prev. 7:1998;341-346.
57. Martone T., Airoldi L., Magagnotti C., Coda R., Randone D., Malaveille C., Avanzi C., Merletti F., Hautefeuille A., Vineis P. 4-Aminobiphenyl-DNA adducts and p53 mutations in bladder cancer. Int. J. Cancer. 75:1998;512-516.
58. Hou S.-M., Lambert B., Hemminki K. Relationship between hprt mutant frequency, aromatic DNA adducts and genotypes for GSTM1 and NAT2 in bus maintenance workers. Carcinogenesis. 16:1995;1913-1917.
59. Oyama T., Kawamoto T., Mizoue T., Yasumoto K., Kodama Y., Mitsudomi T. N-acetylation polymorphism in patients with lung cancer and its association with p53 gene mutation. Anticancer Res. 17:1997;577-581.
60. Oda Y., Tanaka M., Nakanishi I. Relation between the occurrence of K-ras gene point mutations and genotypes of polymorphic N-acetyltransferase in human colorectal carcinoma. Carcinogenesis. 15:1994;1365-1369.
61. Hardingham J.E., Butler W.J., Roder D., Dobrovic A., Dymock R.B., Sage R.E., Roberts-Thomson I.C. Somatic mutations, acetylator status, and prognosis in colorectal cancer. Gut. 42:1998;669-672.
62. Laurenzana E.M., Hassett C., Omiecinski C.J. Post-transcriptional regulation of human microsomal epoxide hydrolase. Pharmacogenetics. 8:1998;157-167.
63. Raaka S., Hassett C., Omiecinski C.J. Human microsomal epoxide hydrolase: 5′-flanking region genetic polymorphisms. Carcinogenesis. 19:1998;387-393.
64. Lancaster J.M., Browlee H.A., Bell D.A., Futreal P.A., Marks J.R., Berchuck A., Wiseman R.W., Taylor J.A. Microsomal epoxide hydrolase polymorphism as a risk factor for ovarian cancer. Mol. Carcinog. 17:1996;160-162.
65. Gustafson D.L., Beall H.D., Bolton E.M., Ross D., Waldren C.A. Expression of human NAD(P)H:quinone oxidoreductase on Chinese hamster ovary cells: effect on the toxicity of antitumor quinones. Mol. Pharmacol. 50:1966;728-735.
66. Schulz W.A., Krummeck A., Rosinger I., Eickelmat P. Increased frequency of a null allele for NAD(P)H:quinone oxidoreductase in patients with urological malignancies. Pharmacogenetics. 7:1997;235-239.
67. Wiencke J.K., Spitz M.R., McMillan A., Kelsey K.T. Lung cancer in Mexican-Americans and African-Americans is associated with the wild-type genotype of the NAD(P)H:quinone oxidoreductase polymorphism. Cancer Epidemiol., Biomarkers Prev. 6:1997;87-92.
68. Ozawa S., Tang Y.-M., Yamazoe Y., Kato R., Lang N.P., Kadlubar F.F. Genetic polymorphisms in human liver phenol sulfotransferases involved in the bioactivation of N-hydroxy derivatives of carcinogenic arylamines and heterocyclic amines. Chem.-Biol. Interact. 109:1998;237-248.
69. Shibutani S., Shaw P.M., Suzuki N., Dasaradhi L., Duffel M.W., Terashima I. Sulfation of alpha-hydroxytamoxifen catalyzed by human hydroxysteroid sulfotransferase results in tamoxifen-DNA adducts. Carcinogenesis. 19:1998;2007-2011.
70. Probst-Hensch N.M., Tannembaum S.R., Chan K.K., Coetzee G.A., Ross R.K., Yu M.C. Absence of the glutathione S-transferase M1 gene increases cytochrome P4501A2 activity among frequent consumers of cruciferous vegetables in a Caucasian population. Cancer Epidemiol., Biomarkers Prev. 7:1998;635-638.