Allelic variants of the thiopurine methyltransferase (TPMT) gene in the Colombian population

Methods and Findings in Experimental and Clinical Pharmacology

Volumn 25, Issue 6, 2003, Pages 423-429

  Isaza, C ^b   Henao, J ^b   Lopez A M ^b   Cacabelos, Ramón ^a  

^a Centro de Investigacion Biomedica EuroEspes   (Spain)

^b NONE

Author keywords

Genetic polymorphism; Pharmacogenetics; Thiopurine methyltransferase; Thiopurines

Indexed keywords

AZATHIOPRINE; MERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE; THIOPURINE METHYLTRANSFERASE 2; THIOPURINE METHYLTRANSFERASE 3A; THIOPURINE METHYLTRANSFERASE 3B; THIOPURINE METHYLTRANSFERASE 3C; TIOGUANINE; UNCLASSIFIED DRUG;

ACUTE LYMPHOBLASTIC LEUKEMIA; ALLELE; ARTICLE; AUTOIMMUNE DISEASE; CATALYSIS; COLOMBIA; CONTROLLED STUDY; DRUG EFFICACY; ENZYME INACTIVATION; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GRAFT REJECTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; METHYLATION; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; ORGAN TRANSPLANTATION; PHARMACOGENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; RACE DIFFERENCE;

ADULT; ALLELES; COLOMBIA; ELECTROPHORESIS, AGAR GEL; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; METHYLTRANSFERASES; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0141792487     PISSN: 03790355     EISSN: None     Source Type: Journal    
DOI: 10.1358/mf.2003.25.6.769646     Document Type: Article

References (28)

1. Weinshilboum, R.M., Otterness, D.M., Szumlanski, C.L. Methylation pharmacogenetics: Catechol O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase. Annu Rev Pharmacol Toxicol 1999, 39: 19-52.
2. Lennard, L. TPMT in the treatment of Crohn's disease with azathioprine. Gut 2002; 51(2): 143-6.
3. McLeod, H.L., Coulthard, S., Thomas, A.E. et al. Analysis of thiopurine methyltransferase variant alleles in childhood acute lymphoblastic leukaemia. Br J Haematol 1999, 105(3): 696-700.
4. Dervieux, T., Medard, Y., Baudouin, V. et al. Thiopurine methyltransferase activity and its relationship to the occurrence of rejection episodes in paediatric renal transplant recipients treated with azathioprine. Br J Clin Pharmacol 1999, 48(6): 793-800.
5. McLeod, H.L., Siva, C. The thiopurine S-methyltransferase gene locus-implications for clinical pharmacogenomics. Pharmacogenomics 2002, 3(1): 89-98.
6. Krynetski, E.Y., Evans, W.E. Genetic polymorphism of thiopurine S-methyltransferase: Molecular mechanisms and clinical importance. Pharmacology 2000, 61: 136-46.
7. Krensky, A.M., Strom, T.B., Bluestone, J.A. Immunomodulators: Immunosuppressive agents, tolerogens, and immunostimulants. In: Goodman & Gilman's The Pharmacological Basis of Therapeutics. 10th edition. Hardman, J.G., Limbird, L.E. (Eds.). McGraw-Hill 2001.
8. Coulthard, S.A., Howell, C., Robson, J., Hall, A.G. The relationship between thiopurine methyltransferase activity and genotype in blast from patients with acute leukemia. Blood 1998, 92(8): 2856-62.
9. Tai, H.L., Krynetski, E.Y., Schuetz, E.G., Yanishevski, Y., Evans, W.E. Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): Mechanisms for the genetic polymorphism of TPMT activity. Proc Natl Acad Sci USA 1997, 94: 6444-9.
10. Ameyaw, M.M., Collie-Duguid, E.S., Powrie, R.H., Ofori-Adjei, D., McLeod, H.L. Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet 1999, 8(2): 367-70.
11. Szumlanski, C., Otterness, D., Her, C., Lee, D., Brandriff, B. et al. Thiopurine methyltransferase pharmacogenetics: Human gene cloning and characterization of a common polymorphism. DNA Cell Biol 1996, 15: 17-30.
12. Weinshilboum, R. Thiopurine pharmacogenetics: Clinical and molecular studies of thiopurine methyltransferase. Drug Metab Dispos 2001, 29(4): 601-5.
13. Collie-Duguid, E.S., Pritchard, S.C., Powrie, R.H. et al. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics 1999, 9(1): 37-42.
14. Hon, Y.Y., Fessing, M.Y., Pui, C.H., Relling, M.V., Krynetski, E.Y., Evans, W.E. Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. Hum Mol Genet 1999, 8(2): 371-6.
15. Krynetski, E.Y., Evans, W.E. Pharmacogenetics as a molecular basis for individualized drug therapy: The thiopurine S-methyltransferase paradigm. Pharm Res 1999, 16(3): 342-9.
16. Otterness, D.M., Szumlanski, C.L., Wood, T.C., Weinshilboum, R.M. Human thiopurine methyltransferase pharmacogenetics kindred with a terminal exon splice Junction mutation that results in loss of activity. J Clin Invest 1998, 101(5): 1036-44.
17. Spire-Vayron de la Moureyre, C., Debuysere, H., Mastain, B. et al. Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population. Br J Pharmacol 1998, 125(4): 879-87.
18. Alves, S., Prata, M.J., Ferreira, F., Amorim, A. Thiopurine methyltransferase pharmacogenetics: Alternative molecular diagnosis and preliminary data from Northern Portugal. Pharmacogenetics 1999, 9(2): 257-61.
19. Hiratsuka, M., Inoue, T., Omori, F., Agatsuma, Y., Mizugaki, M. Genetic analysis of thiopurine methyltransferase polymorphism in a japanese population. Mutat Res 2000, 448(1): 91-5.
20. Kubota, T., Chiba, K. Frequencies of thiopurine S-methyltransferase mutant alleles (TPMT*2, *3A, *3B and *3C) in 151 healthy Japanese subjects and the inheritance of TPMT*3C in the family of a propositus. Br J Clin Pharmacol 2001, 51(5): 475-7.
21. Chang, J.G., Lee, L.S., Chen, C.M. et al. Molecular analysis of thiopurine S-methyltransferase alleles in South-east Asian populations. Pharmacogenetics 2002, 12(3): 191-5.
22. McLeod, H.L., Pritchard, S.C., Githang'a, J. et at. Ethnic differences in thiopurine methyltransferase pharmacogenetics: Evidence for allele specificity in Caucasian and Kenyan individuals. Pharmacogenetics 1999, 9(6): 773-6.
23. Thervet, E., Anglicheau, D., Toledano, N. et al. Long-term results of TPMT activity monitoring in azathioprine-treated renal allograft recipients. J Am Soc Nephrol 2001, 12(1): 170-6.
24. Relling, M.V., Rubnitz, J.E., Rivera, G.K. et al. High incidence of secondary brain tumours after radiotherapy and antimetabolites. Lancet 1999, 354(9172): 34-9.
25. Thomsen, J.B., Schroder, H., Kristinsson, J. et al. Possible carcinogenic effect of 6-mercaptopurine on bone marrow stem cells. Relation to Thiopurine Metabolism. Cancer 1999, 86(6): 1080-6.
26. Spire-Vayron de la Moureyre, C., Debuysere, H., Fazio, F. et al. Characterization of a variable number tandem repeat region in the thiopurine S-methyltranferase gene promoter. Pharmacogenetics 1999, 9(2): 189-98.
27. Council for International Organizations of Medical Sciences (CIOMS). International Ethical Guidelines for Biomedical Research Involving Human Subjects 2002.
28. Yates, C.R., Krynetski, E.Y., Loennechen, T. et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: Genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 1997, 126: 608-14.