메뉴 건너뛰기




Volumn 13, Issue 2, 2003, Pages 97-105

Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians

Author keywords

6 mercaptopurine; Azathioprine; Genotype; Phenotype; Thiopurine; Thiopurine methyltransferase; TPMT; Variable number terminal repeat; VNTR

Indexed keywords

THIOPURINE METHYLTRANSFERASE;

EID: 0037328448     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-200302000-00006     Document Type: Article
Times cited : (49)

References (42)
  • 1
    • 0000609893 scopus 로고
    • Metabolism of thiopyrimidines and thiopurines: S-methylation with S-adenosylmethionine transmethylase and catabolism in mammalian tissue
    • Remy CN. Metabolism of thiopyrimidines and thiopurines: S-methylation with S-adenosylmethionine transmethylase and catabolism in mammalian tissue. J Biol Chem 1963; 236:1078-1084.
    • (1963) J Biol Chem , vol.236 , pp. 1078-1084
    • Remy, C.N.1
  • 2
    • 0020640116 scopus 로고
    • Human kidney thiopurine methyltransferase. Purification and biochemical properties
    • Woodson LC, Weinshilboum RM. Human kidney thiopurine methyltransferase. Purification and biochemical properties. Biochem Pharmacol 1983; 32:819-826.
    • (1983) Biochem Pharmacol , vol.32 , pp. 819-826
    • Woodson, L.C.1    Weinshilboum, R.M.2
  • 4
    • 0031880735 scopus 로고    scopus 로고
    • Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis
    • Spire-Vayron de la Moureyre C, Debuysere H, Sabbagh N, Marez D, Vinner E, Chevalier ED, et al. Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis. Hum Mutat 1998; 12:177-185.
    • (1998) Hum Mutat , vol.12 , pp. 177-185
    • Spire-Vayron De La Moureyre, C.1    Debuysere, H.2    Sabbagh, N.3    Marez, D.4    Vinner, E.5    Chevalier, E.D.6
  • 5
    • 0032030953 scopus 로고    scopus 로고
    • Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity
    • Otterness DM, Szumlanski CL, Wood TC, Weinshilboum RM. Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity. J Clin Invest 1998; 101:1036-1044.
    • (1998) J Clin Invest , vol.101 , pp. 1036-1044
    • Otterness, D.M.1    Szumlanski, C.L.2    Wood, T.C.3    Weinshilboum, R.M.4
  • 8
    • 0029919807 scopus 로고    scopus 로고
    • Thiopurine S-methyltransferase deficiency: Two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians
    • Tai HL, Krynetski EY, Yates CR, Loennechen T, Fessing MY, Krynecskala NF, 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.
    • (1996) Am J Hum Genet , vol.58 , pp. 694-702
    • Tai, H.L.1    Krynetski, E.Y.2    Yates, C.R.3    Loennechen, T.4    Fessing, M.Y.5    Krynecskala, N.F.6
  • 9
    • 0029790730 scopus 로고    scopus 로고
    • Individualizing therapy with 6-mercaptopurine and 6-thioguanine related to the thiopurine methyltransferase genetic polymorphism
    • Lennard L, Lilleyman JS. Individualizing therapy with 6-mercaptopurine and 6-thioguanine related to the thiopurine methyltransferase genetic polymorphism. Ther Drug Monit 1996; 18:328-334.
    • (1996) Ther Drug Monit , vol.18 , pp. 328-334
    • Lennard, L.1    Lilleyman, J.S.2
  • 10
    • 0024451147 scopus 로고
    • Pharmacogenetics of acute azathioprine toxicity: Relationship to thiopurine methyltransferase genetic polymorphism
    • Lennard L, Van Loon JA, Weinshilboum RM. Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin Pharmacol Ther 1989; 46:149-154.
    • (1989) Clin Pharmacol Ther , vol.46 , pp. 149-154
    • Lennard, L.1    Van Loon, J.A.2    Weinshilboum, R.M.3
  • 11
    • 0031663491 scopus 로고    scopus 로고
    • Clinical implications of thiopurine methyltransferase - Optimization of drug dosage and potential drug interactions
    • Lennard L. Clinical implications of thiopurine methyltransferase - optimization of drug dosage and potential drug interactions. Ther Drug Monit 1998; 20:527-531.
    • (1998) Ther Drug Monit , vol.20 , pp. 527-531
    • Lennard, L.1
  • 12
    • 0035871560 scopus 로고    scopus 로고
    • Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine
    • Evans WE, Hon YY, Bomgaars L, Coutre S, Holdsworth M, Janco R, et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J Clin Oncol 2001; 19:2293-2301.
    • (2001) J Clin Oncol , vol.19 , pp. 2293-2301
    • Evans, W.E.1    Hon, Y.Y.2    Bomgaars, L.3    Coutre, S.4    Holdsworth, M.5    Janco, R.6
  • 14
    • 0027524983 scopus 로고
    • Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia
    • Lennard L, Gibson BE, Nicole T, Lilleyman JS. Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. Arch Dis Child 1993; 69:577-579.
    • (1993) Arch Dis Child , vol.69 , pp. 577-579
    • Lennard, L.1    Gibson, B.E.2    Nicole, T.3    Lilleyman, J.S.4
  • 15
    • 0030656430 scopus 로고    scopus 로고
    • Thiopurine drugs in the treatment of childhood leukaemia: The influence of inherited thiopurine methyltransferase activity on drug metabolism and cytotoxicity
    • Lennard L, Welch JC, Lilleyman JS. Thiopurine drugs in the treatment of childhood leukaemia: the influence of inherited thiopurine methyltransferase activity on drug metabolism and cytotoxicity. Br J Clin Pharmacol 1997; 44:455-461.
    • (1997) Br J Clin Pharmacol , vol.44 , pp. 455-461
    • Lennard, L.1    Welch, J.C.2    Lilleyman, J.S.3
  • 17
    • 0030934850 scopus 로고    scopus 로고
    • Molecular diagnosis of thiopurine S-methyltransferase deficiency: Genetic basis for azathioprine and mercaptopurine intolerance
    • Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL, Pui CH, et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 1997; 126:608-614.
    • (1997) Ann Intern Med , vol.126 , pp. 608-614
    • Yates, C.R.1    Krynetski, E.Y.2    Loennechen, T.3    Fessing, M.Y.4    Tai, H.L.5    Pui, C.H.6
  • 18
    • 0034883283 scopus 로고    scopus 로고
    • Detection of one single mutation predicts thiopurine S-methyltransferase activity in a population of Saami in northern Norway
    • Loennechen T, Utsi E, Hartz I, Lysaa R, Kildalsen H, Aarbakke J. Detection of one single mutation predicts thiopurine S-methyltransferase activity in a population of Saami in northern Norway. Clin Pharmacol Ther 2001; 70:183-188.
    • (2001) Clin Pharmacol Ther , vol.70 , pp. 183-188
    • Loennechen, T.1    Utsi, E.2    Hartz, I.3    Lysaa, R.4    Kildalsen, H.5    Aarbakke, J.6
  • 19
    • 0036066914 scopus 로고    scopus 로고
    • Thiopurine methyltransferase polymorphisms in a multiracial Asian population and children with acute lymphoblastic leukemia
    • Kham SK, Tan PL, Tay AH, Heng CK, Yeoh AE, Quah TC. Thiopurine methyltransferase polymorphisms in a multiracial Asian population and children with acute lymphoblastic leukemia. J Pediatr Hematol Oncol 2002; 24:353-359.
    • (2002) J Pediatr Hematol Oncol , vol.24 , pp. 353-359
    • Kham, S.K.1    Tan, P.L.2    Tay, A.H.3    Heng, C.K.4    Yeoh, A.E.5    Quah, T.C.6
  • 21
  • 22
    • 0036260109 scopus 로고    scopus 로고
    • Molecular analysis of thiopurine S-methyltransferase alleles in South-east Asian populations
    • Chang JG, Lee LS, Chen CM, Shih MC, Wu MC, Tsai FJ, et al. Molecular analysis of thiopurine S-methyltransferase alleles in South-east Asian populations. Pharmacogenetics 2002; 12:191-195.
    • (2002) Pharmacogenetics , vol.12 , pp. 191-195
    • Chang, J.G.1    Lee, L.S.2    Chen, C.M.3    Shih, M.C.4    Wu, M.C.5    Tsai, F.J.6
  • 24
    • 0033434009 scopus 로고    scopus 로고
    • Ethnic differences in thiopurine methyltransferase pharmacogenetics: Evidence for allele specificity in Caucasian and Kenyan individuals
    • McLeod HL, Pritchard SC, Githang'a J, Indalo A, Ameyaw MM, Powrie RH, et al. Ethnic differences in thiopurine methyltransferase pharmacogenetics: evidence for allele specificity in Caucasian and Kenyan individuals. Pharmacogenetics 1999; 9:773-776.
    • (1999) Pharmacogenetics , vol.9 , pp. 773-776
    • McLeod, H.L.1    Pritchard, S.C.2    Githang'a, J.3    Indalo, A.4    Ameyaw, M.M.5    Powrie, R.H.6
  • 25
    • 0005454374 scopus 로고    scopus 로고
    • Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population
    • Spire-Vayron de la Moureyre C, Debuysere H, Mastain B, Vinner E, Marez D, Lo Guidice JM, et al. Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population. Br J Pharmacol 1998; 125:879-887.
    • (1998) Br J Pharmacol , vol.125 , pp. 879-887
    • Spire-Vayron De La Moureyre, C.1    Debuysere, H.2    Mastain, B.3    Vinner, E.4    Marez, D.5    Lo Guidice, J.M.6
  • 26
    • 0033837392 scopus 로고    scopus 로고
    • Thiopurine methyltransferase polymorphic tandem repeat: Genotype-phenotype correlation analysis
    • Yah L, Zhang S, Eiff B, Szumlanski CL, Powers M, O'Brien JF, et al. Thiopurine methyltransferase polymorphic tandem repeat: genotype-phenotype correlation analysis. Clin Pharmacol Ther 2000; 68:210-219.
    • (2000) Clin Pharmacol Ther , vol.68 , pp. 210-219
    • Yah, L.1    Zhang, S.2    Eiff, B.3    Szumlanski, C.L.4    Powers, M.5    O'Brien, J.F.6
  • 27
    • 0033631649 scopus 로고    scopus 로고
    • Characterization of three new VNTR alleles in the promoter region of the TPMT gene
    • Alves S, Ferreira F, Prata MJ, Amorim A. Characterization of three new VNTR alleles in the promoter region of the TPMT gene. Hum Mutat 2000; 15:121.
    • (2000) Hum Mutat , vol.15 , pp. 121
    • Alves, S.1    Ferreira, F.2    Prata, M.J.3    Amorim, A.4
  • 28
    • 0034889535 scopus 로고    scopus 로고
    • Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity
    • Alves S, Amorim A, Ferreira F, Prata MJ. Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity. Clin Pharmacol Ther 2001; 70:165-174.
    • (2001) Clin Pharmacol Ther , vol.70 , pp. 165-174
    • Alves, S.1    Amorim, A.2    Ferreira, F.3    Prata, M.J.4
  • 30
    • 0036312490 scopus 로고    scopus 로고
    • Erythrocyte thiopurine methyl transferase assessment prior to azathioprine use in the UK
    • Holme SA, Duley JA, Sanderson J, Routledge PA, Anstey AV. Erythrocyte thiopurine methyl transferase assessment prior to azathioprine use in the UK. Q J Med 2002; 95:439-444.
    • (2002) Q J Med , vol.95 , pp. 439-444
    • Holme, S.A.1    Duley, J.A.2    Sanderson, J.3    Routledge, P.A.4    Anstey, A.V.5
  • 31
    • 0026717661 scopus 로고
    • The importance of thiopurine methyltransferase activity for the use of azathioprine in transplant recipients
    • Chocair PR, Duley JA, Simmonds HA, Cameron JS. The importance of thiopurine methyltransferase activity for the use of azathioprine in transplant recipients. Transplantation 1992; 53:1051-1056.
    • (1992) Transplantation , vol.53 , pp. 1051-1056
    • Chocair, P.R.1    Duley, J.A.2    Simmonds, H.A.3    Cameron, J.S.4
  • 32
    • 0030048791 scopus 로고    scopus 로고
    • Thiopurine methyltransferase pharmacogenetics: Human gene cloning and characterization of a common polymorphism
    • Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, et al. Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol 1996; 15:17-30.
    • (1996) DNA Cell Biol , vol.15 , pp. 17-30
    • Szumlanski, C.1    Otterness, D.2    Her, C.3    Lee, D.4    Brandriff, B.5    Kelsell, D.6
  • 34
    • 0025331198 scopus 로고
    • Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia
    • Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 1990; 336:225-229.
    • (1990) Lancet , vol.336 , pp. 225-229
    • Lennard, L.1    Lilleyman, J.S.2    Van Loon, J.3    Weinshilboum, R.M.4
  • 35
    • 0034646283 scopus 로고    scopus 로고
    • Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population
    • Hiratsuka M, Inoue T, Omori F, Agatsuma Y, Mizugaki M. Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. Mutat Res 2000; 448:91-95.
    • (2000) Mutat Res , vol.448 , pp. 91-95
    • Hiratsuka, M.1    Inoue, T.2    Omori, F.3    Agatsuma, Y.4    Mizugaki, M.5
  • 36
    • 0034850189 scopus 로고    scopus 로고
    • 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
    • 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; 51:475-477.
    • (2001) Br J Clin Pharmacol , vol.51 , pp. 475-477
    • Kubota, T.1    Chiba, K.2
  • 37
    • 0027232125 scopus 로고
    • Fast and slow methylators: Do racial differences influence risk of allograft rejection?
    • Chocair PR, Duley JA, Sabbaga E, Arap S, Simmonds HA, Cameron JS. Fast and slow methylators: do racial differences influence risk of allograft rejection? Q J Med 1993; 86:359-363.
    • (1993) Q J Med , vol.86 , pp. 359-363
    • Chocair, P.R.1    Duley, J.A.2    Sabbaga, E.3    Arap, S.4    Simmonds, H.A.5    Cameron, J.S.6
  • 38
    • 0033782140 scopus 로고    scopus 로고
    • A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations
    • Coulthard SA, Rabello C, Robson J, Howell C, Minto L, Middleton PG, et al. A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations. Br J Haematol 2000; 110:599-604.
    • (2000) Br J Haematol , vol.110 , pp. 599-604
    • Coulthard, S.A.1    Rabello, C.2    Robson, J.3    Howell, C.4    Minto, L.5    Middleton, P.G.6
  • 39
    • 0034745462 scopus 로고    scopus 로고
    • High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC
    • Schaeffeler E, Lang T, Zanger UM, Eichelbaum M, Schwab M. High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC. Clin Chem 2001; 47:548-555.
    • (2001) Clin Chem , vol.47 , pp. 548-555
    • Schaeffeler, E.1    Lang, T.2    Zanger, U.M.3    Eichelbaum, M.4    Schwab, M.5
  • 40
    • 0023119219 scopus 로고
    • Thiopurine pharmacogenetics in leukemia: Correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations
    • Lennard L, Van Loon JA, Lilleyman JS, Weinshilboum RM. Thiopurine pharmacogenetics in leukemia: correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations. Clin Pharmacol Ther 1987; 41:18-25.
    • (1987) Clin Pharmacol Ther , vol.41 , pp. 18-25
    • Lennard, L.1    Van Loon, J.A.2    Lilleyman, J.S.3    Weinshilboum, R.M.4
  • 41
    • 0035515573 scopus 로고    scopus 로고
    • Human thiopurine methyltransferase activity varies with red blood cell age
    • Lennard L, Chew TS, Lilleyman JS. Human thiopurine methyltransferase activity varies with red blood cell age. Br J Clin Pharmacol 2001; 52:539-546.
    • (2001) Br J Clin Pharmacol , vol.52 , pp. 539-546
    • Lennard, L.1    Chew, T.S.2    Lilleyman, J.S.3
  • 42
    • 0028917479 scopus 로고
    • Sulphasalazine inhibition of thiopurine methyltransferase: Possible mechanism for interaction with 6-mercaptopurine and azathioprine
    • Szumlanski CL, Weinshilboum RM. Sulphasalazine inhibition of thiopurine methyltransferase: possible mechanism for interaction with 6-mercaptopurine and azathioprine. Br J Clin Pharmacol 1995; 39:456-459.
    • (1995) Br J Clin Pharmacol , vol.39 , pp. 456-459
    • Szumlanski, C.L.1    Weinshilboum, R.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.