Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 448, Issue 1, 2000, Pages 91-95

  Hiratsuka, Masahiro ^a   Inoue, Tomoko ^a   Omori, Fumiko ^a   Agatsuma, Yasuyuki ^a   Mizugaki, Michinao ^a  

^a TOHOKU UNIVERSITY HOSPITAL   (Japan)

Author keywords

Genetic polymorphism; Pharmacogenetics; Thiopurine methyltransferase

Indexed keywords

AZATHIOPRINE; MERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE; TIOGUANINE;

ARTICLE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; JAPAN; PHENOTYPE; PRIORITY JOURNAL;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS, POPULATION; HUMANS; JAPAN; METHYLTRANSFERASES; PHARMACOGENETICS; POLYMORPHISM, GENETIC;

STAPHYLOCOCCUS PHAGE 3A;

EID: 0034646283     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(00)00004-X     Document Type: Article

References (22)

1. Woodson L.C., Weinshilboum R.M. Human kidney thiopurine methyltransferase. Purification and biochemical properties. Biochem. Pharmacol. 32:1983;819-826.
2. Deininger M., Szumlanski C.L., Otterness D.M., Van Loon J., Ferber W., Weinshilboum R.M. Purine substrates for human thiopurine methyltransferase. Biochem. Pharmacol. 48:1994;2135-2138.
3. McLeod H.L., Krynetski E.Y., Wilimas J.A., Evans W.E. Higher activity of polymorphic thiopurine S-methyltransferase in erythrocytes from neonates compared to adults. Pharmacogenetics. 5:1995;281-286.
4. Weinshilboum R.M., Sladek S.L. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am. J. Hum. Genet. 32:1980;651-662.
5. Lennard L., Van Loon J.A., Weinshilboum R.M. Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin. Pharm. Ther. 46:1989;149-154.
6. Weinshilboum R.M. Methylation pharmacogenetics: thiopurine methyltransferase as a model system. Xenobiotica. 22:1992;1055-1071.
7. Krynetski E.Y., Tai H.L., Yates C.R., Fessing M.Y., Loennechen T., Schuetz J.D., Relling M.V., Evans W.E. Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics. 6:1996;279-290.
8. McLeod H.L., Miller D.R., Evans W.E. Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. Lancet. 341:1993;1151.
9. Schutz E., Gummert J., Mohr F., Oellerich M. Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. Lancet. 341:1993;436.
10. Escousse A., Rifle G., Sgro C., Mousson C., Zanetta G., Chevet D. Azathioprine toxicity, 6-mercaptopurine accumulation and the "poor" 6-thiopurine methylator phenotype. Eur. J. Clin. Pharmacol. 48:1995;309-310.
11. Leipold G., Schutz E., Haas J.P., Oellerich M. Azathioprine-induced severe pancytopenia due to a homozygous two-point mutation of the thiopurine methyltransferase gene in a patient with juvenile HLA-B27-associated spondylarthritis. Arthritis Rheum. 40:1997;1896-1898.
12. 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. U.S.A. 92:1995;949-953.
13. Tai H.L., Krynetski E.Y., Yates C.R., Loennechen T., Fessing M.Y., Krynetskaia N.F., Evans W.E. 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. 58:1996;694-702.
14. Otterness D., Szumlanski C., Lennard L., Klemetsdal B., Aarbakke J., Park-Hah J.O., Iven H., Schmiegelow K., Branum E., O'Brien J., Weinshilboum R. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin. Pharm. Ther. 62:1997;60-73.
15. 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. 101:1998;1036-1044.
16. Spire-Vayron de la Moureyre C., Debuysere H., Sabbagh N., Marez D., Vinner E., Chevalier E.D., Lo Guidice J.M., Broly F. Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis. Hum. Mutat. 12:1998;177-185.
17. 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. 8:1999;371-376.
18. Yates C.R., Krynetski E.Y., Loennechen T., Fessing M.Y., Tai H.L., Pui C.H., Relling M.V., Evans W.E. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann. Int. Med. 126:1997;608-614.
19. Collie-Duguid S.R., Pritchard S.C., Powrie R.H., Sludden J., Collier D.A., Li T. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics. 9:1999;37-42.
20. 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. 8:1999;367-370.
21. Citera G., Wilson W.A. Ethnic and geographic perspectives in SLE. Lupus. 2:1993;351-353.
22. Szumlanski C., Otterness D., Her C., Lee D., Brandriff B., Kelsell D., Spurr N., Lennard L., Wieben E., Weinshilboum R. Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol. 62:1997;60-73.