Study of the association between cytochromes P450 2D6 and 2E1 genotypes and the risk of drug and chemical induced idiosyncratic aplastic anaemia

British Journal of Haematology

Volumn 104, Issue 2, 1999, Pages 266-270

  Marsh, J C W ^a   Chowdry, J ^c   Parry Jones, N ^a   Ellis, S W ^c   Muir, K R ^b   Gordon Smith, E C ^a   Tucker, G T ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^c UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

CYP2D6 gene; Drug metabolism; GYP2E1 gene; Idiosyncratic aplastic anaemia

Indexed keywords

BENZENE; CYTOCHROME P450 2D6; CYTOCHROME P450 2E1; CYTOCHROME P450 ISOENZYME; REMOXIPRIDE; UNCLASSIFIED DRUG;

APLASTIC ANEMIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME POLYMORPHISM; FEMALE; GENETIC SUSCEPTIBILITY; HUMAN; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; XENOBIOTIC METABOLISM;

ANEMIA, APLASTIC; CYTOCHROME P-450 CYP2D6; CYTOCHROME P-450 CYP2E1; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 0032911172     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01190.x     Document Type: Article

References (33)

1. Bacigalupo, A., Hows, J., Gluckman, E., Nissen, C., Marsh, J., van Lint, M.T., Congiu, M., de Planque, M.M., Ernst, P., McCann, S., Raghavachar, A., Frickhofen, N., Wursch, A., Marmont, A. & Gordon-Smith, E.C. (1988) Bone marrow transplantation (BMT) versus immunosuppression for the treatment of severe aplastic anaemia (SAA): a report of the EBMT SAA Working Party. British Journal of Haematology, 70, 177-182.
2. Broly, E., Marez, D., Lo-Guidice, J.M., Sabhagh, N., Legrand, M., Boone, P. & Meyer, U.A. (1995) A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency. Human Genetics, 96, 601-603.
3. Camitta, B.M., Thomas, E.D., Nathan, D.G., Santos, G., Gordon-Smith, E.C., Gale, R.P., Rappeport, J.M. & Storb, R. (1976) Severe aplastic anemia: a prospective study on the effect of early marrow transplantation on acute mortality. Blood, 48, 63-70.
4. Chapuis, B., von Fliedner, V.E., Jeannet, M., Mercia, H., Vuagnat, P., Gratwohl, A., Nissen, C. & Speck, B. (1986) Increased frequency of DR2 in patients with aplastic anaemia and increased DR sharing in their parents. British Journal of Haematology, 63, 51-53.
5. Cholerton, S., Daly, A.K. & Idle, J.R. (1992) The role of individual human cytochromes P450 in drug metabolism and clinical response. Trends in Pharmacological Science 13, 434-439.
6. Corzo, D., Yunis, J.J., Lieberman, J.A., Howard, A., Awdeh, Z., Alper, C.A. & Yunis, E.J. (1995) The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups. Blood, 86, 3835-3840.
7. CSM (1993) Current Problems in Pharmacovigilance, 19, 9.
8. Daly, A.K., Cholerton, S., Armstrong, M. & Idle, J.R. (1994) Genotyping for polymorphisms in xenobiotic metabolism as a predictor of disease susceptibility. Environmental Health Perspectives, 102, 55-61.
9. Evert, B., Griese, E.-U. & Eichelbaum, M. (1994) A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metaboliser phenotype of sparteine. Naunyn-Schmiedeberg's Archives of Pharmacology, 350, 434-439.
10. Gonzales, F.J. & Meyer, U.A. (1991) Molecular genetics of the debrisoquine-sparteine polymorphism. Clinical Pharmacology and Therapeutics, 50, 233-238.
11. Gordon-Smith, E.C. & Issaragrisil, S. (1992) Epidemiology of aplastic anaemia. Bailliere's Clinical Haematology, 5, 475-491.
12. Gough, A.C., Miles, J.S., Spurr, N.K., Moss, J.E., Gaedigk, A., Eichelbaum, M. & Wolf, C.R. (1990) Identification of the primary gene defect at the cytochrome P450 CYP2D locus. Nature, 347, 773-776.
13. Graham, D.E. (1978) The isolation of high molecular weight DNA from whole organisms or large tissue masses. Analytical Biochemistry, 85, 604-613.
14. Hayashi, S., Wataneb, J. & Kaname, K. (1991) Genetic polymorphism in the 5′-flanking region change transcriptional regulation of the human cylochrome P450IIE1 gene. Journal of Biochemistry, 110, 559-565.
15. Heim, M. & Meyer, U.A. (1990) Genotyping of poor metabolisers of debrisoquine by allele-specific PCR amplification. Lancet, 336, 529-532.
16. Heimpel, H. (1996) When should the clinician suspect a drug induced blood dyscrasia and how should he proceed? European Journal of Haematology, 57, (Suppl.), 11-15.
17. Laidlaw, S.T., Snowden, J.A. & Brown, M.J. (1993) Aplastic anaemia and remoxipride. (Letter). Lancet, 342, 1245.
18. Mahgoub, A., Idle, J.R., Dring, L.G., Lancester, R. & Smith, R.L. (1977) Polymorphic hydroxylation of debrisoquine in man. Lancet, ii, 584-586.
19. Marsh, J.C.W., Abboudi, Z.H., Gibson, F.M., Scopes, J., Daly, S., O'Shaunnessy, D.F., Baughan, A.S.J. & Gordon-Smith, E.C. (1995) Aplastic anaemia following exposure to 3,4-methylenedioxymethamphetamine ('Ecstasy'). British Journal of Haematology, 88, 281.
20. Nakao, S., Takami, A., Sugimori, N., Ueda, M., Shiobara, S. & Matsuda, T. (1996) Response of immunosuppressive therapy and an HLA-DRB1 allele in patients with aplastic anaemia: HLA-DRB1*1501 does not predict response to antithymocyte globulin. British Journal of Haematology, 92, 155-158.
21. Nimer, S.D., Ireland, P., Meshkinpour, A. & Franc, M. (1994) An increased HLA-DR2 frequency is seen in aplastic anemia patients. Blood, 84, 923-927.
22. Persson, I., Johanssen, I., Beigling, H., Dahl, M.-L., Seidegard, J., Rylander, R., Rannug, A., Hogberg, J. & Sundberg, M.I. (1993) Genetic polymorphism of cytochrome P4502E1 in a Swedish population. FEBS Letters, 3, 207-211.
23. Philpott, N.J., Marsh, J.C.W. & Gordon-Smith, E.C. (1993) Aplastic anaemia and remoxipride. Lancet, 342, 1244-1245.
24. Ross, D. (1996) Metabolic basis of benzene toxicity. European Journal of Haematology, 57, (Suppl.), 111-118.
25. Rothman, N., Campleman, S. & Hayes, R.B. (1995) High CYP2E1 activity is a risk factor for benzene poisoning. Proceedings of the American Association for Cancer Research, 36, 282 (abstract 1679).
26. Saxena, R., Shaw, G.L., Relling, M.V., Frame, J.N., Moir, D.T., Evans, W.E., Caporaso, N. & Weiffenbach, B. (1994) Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metaboliser phenotype. Human Molecular Genetics, 3, 923-926.
27. Spielberg, S.P. (1996) Pharmacogenetics and blood dyscrasias. European Journal of Haematology, 57, (Suppl.), 93-97.
28. Tucker, G.T. (1994) Clinical implications of genetic polymorphism in drug metabolism. Journal of Pharmacological Pharmacology, 46, 417-424.
29. Tucker, G.T., Lennard, M.S., Ellis, S.W., Woods, H.F., Cho, A.K., Lin, L.Y., Hiratsuka, A., Schmitz, D.A. & Chu, T.Y.Y. (1994) The demethylation of methylenedioxymethamphetamine ('Ecstasy') by debrisoquine hydroxylase (CYP2D6). Biochemical Pharmacology, 47, 1151.
30. Tucker, G.T., Silas, J.H., Iyun, A.O., Lennard, M.S. & Smith, A.J. (1977) Polymorphic hydroxylation of debrisoquine. Lancet, ii, 718.
31. Young, N.S. & Alter, B.P. (1994) Drugs and chemicals. Aplastic Anaemia, Acquired and Inherited, pp. 100-132. Saunders, Philadelphia.
32. Young, N.S. & Maciejewski, J.N. (1997) The pathophysiology of acquired aplastic anemia. New England Journal of Medicine, 336, 1365-1372.
33. Yunis, J.J., Corza, D., Salazar, M., Lieberman, J.A., Howard, A. & Yunis, E.J. (1995) HLA associations in clozapine-induced agranulocytosis. Blood, 86, 1177-1183.