Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-caucasians and identification of novel TPMT variants

Pharmacogenetics

Volumn 14, Issue 7, 2004, Pages 407-417

  Schaeffeler, Elke ^a   Fischer, Christine ^a   Brockmeier, Dierk ^b   Wernet, Dorothee ^c   Moerike, Klaus ^c   Eichelbaum, Michel ^a,c   Zanger, Ulrich M ^a   Schwab, Matthias ^a  

^a ROBERT BOSCH GMBH   (Germany)

^b JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Genotype phenotype correlation; Pharmacogenetics; Population study; TPMT

Indexed keywords

6 MERCAPTOPURINE DERIVATIVE; CAFFEINE; METHYLTRANSFERASE; NICOTINE; THIOPURINE METHYLTRANSFERASE;

ADULT; AGED; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC PROCEDURE; ENZYME ACTIVITY; ERYTHROCYTE; FEMALE; FREQUENCY ANALYSIS; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; GERMANY; HETEROZYGOTE; HUMAN; MALE; MONOZYGOTIC TWINS; NORMAL HUMAN; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SEX DIFFERENCE; TWIN DISCORDANCE;

ADOLESCENT; ADULT; AGED; ERYTHROCYTES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; GERMANY; HUMANS; KINETICS; METHYLTRANSFERASES; MIDDLE AGED; PHENOTYPE; SEX CHARACTERISTICS; SMOKING; VARIATION (GENETICS);

STAPHYLOCOCCUS PHAGE 3A;

EID: 3242762099     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.fpc.0000114745.08559.db     Document Type: Article

References (72)

1. Elion GB. The purine path to chemotherapy. Science 1989; 244:41-47.
2. Weinshilboum R. Thiopurine pharmacogenetics: clinical and molecular studies of thiopurine methyltransferase. Drug Metab Dispos 2001; 29:601-605.
3. Krynetski E, Evans WE. Drug methylation in cancer therapy: lessons from the TPMT polymorphism. Oncogene 2003; 22:7403-7413.
4. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980; 32:651-662.
5. Otterness D, Szumlanski C, Lennard L, Klemetsdal B, Aarbakke J, Park-Hah JO, et al. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin Pharmacol Ther 1997; 62:60-73.
6. 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.
7. Krynetski EY, Schuetz JD, Galpin AJ, Pui CH, Relling MV, Evans WE. A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc Natl Acad Sci USA 1995; 92:949-953.
8. Tai HL, Krynetski EY, Yates CR, Loennechen T, Fessing MY, Krynetskaia NF, Evans WE. 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.
9. 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.
10. Hon YY, Fessing MY, Pui CH, Relling MV, Krynetski EY, Evans WE. Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. Hum Mol Genet 1999; 8:371-376.
11. Colombel JF, Ferrari N, Debuysere H, Marteau P, Gendre JP, Bonaz B, et al. Genotypic analysis of thiopurine S-methyltransferase in patients with Crohn's disease and severe myelosuppression during azathioprine therapy. Gastroenterology 2000; 118:1025-1030.
12. McLeod HL, Siva C. The thiopurine S-methyltransferase gene locus - implications for clinical pharmacogenomics. Pharmacogenomics 2002; 3:89-98.
13. Schaeffeler E, Stanulla M, Greil J, Schrappe M, Eichelbaum M, Zanger UM, Schwab M. A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL. Leukemia 2003; 17:1422-1424.
14. Hamdan-Khalil R, Allorge D, Lo-Guidice JM, Cauffiez C, Chevalier D, Spire C, et al. In vitro characterization of four novel non-functional variants of the thiopurine S-methyltransferase. Biochem Biophys Res Commun 2003; 309:1005-1010.
15. Lindquist M, Haglund S, Almer S, Peterson C, Taipalensu J, Hertervig E, et al. Identification of two novel sequence variants affecting thiopurine methyltransferase enzyme activity. Pharmacogenetics 2004; 14:261-265.
16. 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.
17. Collie-Duguid ES, Pritchard SC, Powrie RH, Sludden J, Collier DA, Li T, McLeod HL. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics 1999; 9:37-42.
18. Spire-Vayron de la Moureyre C, Debuysere H, Fazio F, Sergent E, Bernard C, Sabbagh N, et al. Characterization of a variable number tandem repeat region in the thiopurine S-methyltransferase gene promoter. Pharmacogenetics 1999; 9:189-198.
19. 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.
20. Marinaki AM, Arenas M, Khan ZH, Lewis CM, Shobowale-Bakre E-M, Escuredo E, et al. Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians. Pharmacogenetics 2003; 13:97-105.
21. 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.
22. Schütz E, Gummert J, Mohr F, Oellerich M. Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. Lancet 1993; 341:436.
23. Schwab M, Schaeffeler E, Marx C, Zanger U, Aulitzky W, Eichelbaum M. Shortcoming in the diagnosis of TPMT deficiency in a patient with Crohn's disease using phenotyping only. Gastroenterology 2001; 121:498-499.
24. 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.
25. Black AJ, McLeod HL, Capell HA, Powrie RH, Matowe LK, Pritchard SC, et al. Thiopurine methyltransferase genotype predicts therapy-limiting severe toxicity from azathioprine. Ann Intern Med 1998; 129:716-718.
26. Relling MV, Hancock ML, Rivera GK, Sandlund JT, Ribeiro RC, Krynetski EY, et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst 1999; 91:2001-2008.
27. Schwab M, Schaffeler E, Marx C, Fischer C, Lang T, Behrens C, et al. Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. Pharmacogenetics 2002; 12:429-436.
28. Lennard L. TPMT in the treatment of Crohn's disease with azathioprine. Gut 2002; 51:143-146.
29. Evans WE. Thiopurine S-methyltransferase: a genetic polymorphism that affects a small number of drugs in a big way. Pharmacogenetics 2002; 12:421-423.
30. Kaskas BA, Louis E, Hindorf U, Schaeffeler E, Deflandre J, Graepler F, et al. Safe treatment of thiopurine S-methyltransferase deficient Crohn's disease patients with azathioprine. Gut 2003; 52:140-142.
31. Krynetski EY, Evans WE. Genetic polymorphism of thiopurine S-methyltransferase: molecular mechanisms and clinical importance. Pharmacology 2000; 61:136-146.
32. Cheung ST, Allan RN. Mistaken identity: misclassification of TPMT phenotype following blood transfusion. Eur J Gastroenferol Hepatol 2003; 15:1245-1247.
33. McLeod HL, Relling MV, Liu Q, Pui CH, Evans WE. Polymorphic thiopurine methyltransferase in erythrocytes is indicative of activity in leukemic blasts from children with acute lymphoblastic leukemia. Blood 1995; 85:1897-1902.
34. Lennard L, Lilleyman JS, Van Loon JA, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukemia. Lancet 1990; 336:225-229.
35. Woodson LC, Ames MM, Selassie CD, Hansch C, Weinshilboum RM. Thiopurine methyltransferase. Aromatic thiol substrates and inhibition by benzoic acid derivatives. Mol Pharmacol 1983; 24:471-478.
36. 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.
37. Lewis LD, Benin A, Szumlanski CL, Otterness DM, Lennard L, Weinshilboum RM, et al. Olsalazine and 6-mercaptopurine-related bone marrow suppression: a possible drug-drug interaction. Clin Pharmacol Ther 1997; 62:464-475.
38. Lowry PW, Franklin CL, Weaver AL, Szumlanski CL, Mays DC, Loftus EV, et al. Leucopenia resulting from a drug interaction between azathioprine or 6-mercaptopurine and mesalamine, sulphasalazine, or balsalazide. Gut 2001; 49:656-664.
39. 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.
40. 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.
41. Rossi AM, Bianchi M, Guarnieri C, Barale R, Pacifici GM. Genotype-phenotype correlation for thiopurine S-methyltransferase in healthy Italian subjects. Eur J Clin Pharmacol 2001; 57:51-54.
42. Reis M, Santoro A, Suarez-Kurtz G. Thiopurine methyltransferase phenotypes and genotypes in Brazilians. Pharmacogenetics 2003; 13: 371-373.
43. Larovere LE, de Kremer RD, Lambooy LH, De Abreu RA. Genetic polymorphism of thiopurine S-methyltransferase in Argentina. Ann Clin Biochem 2003; 40:388-393.
44. Indjova D, Atanasova S, Shipkova M, Armstrong VW, Oellerich M, Svinarov D. Phenotypic and genotypic analysis of thiopurine S-methyltransferase polymorphism in the Bulgarian population. Ther Drug Monit 2003; 25:631-636.
45. Conney AH. Induction of drug-metabolizing enzymes: a path to the discovery of multiple cytochromes P450. Annu Rev Pharmacol Toxicol 2003; 43:1-30.
46. Bock KW, Schrenk D, Forster A, Griese EU, Morike K, Brockmeier D, Eichelbaum M. The influence of environmental and genetic factors on CYP2D6, CYP1A2 and UDP-glucuronosyltransferases in man using sparteine, caffeine, and paracetamol as probes. Pharmacogenetics 1994; 4:209-218.
47. Kröplin T, Weyer N, Gutsche S, Iven H. Thiopurine S-methyltransferase activity in human erythrocytes: a new HPLC method using 6-thioguanine as substrate. Eur J Clin Pharmacol 1998; 54:265-271.
48. Kröplin T, Fischer C, Iven H. Inhibition of thiopurine S-methyltransferase activity by impurities in commercially available substrates: a factor for differing results of TPMT measurements. Eur J Clin Pharmacol 1999; 55:285-291.
49. McLeod HL, Lin JS, Scott EP, Pui CH, Evans WE. Thiopurine methyltransferase activity in American white subjects and black subjects. Clin Pharmacol Ther 1994; 55:15-20.
50. Weinshilboum RM, Raymond FA, Pazmino PA. Human erythrocyte thiopurine methyltransferase: radiochemical microassay and biochemical properties. Clin Chim Acta 1978; 85:323-333.
51. 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.
52. Rosin P, Rammler E, Sperling K. Korngrößenprobleme des Kohlenstaubs und ihre Bedeutung für die Vermahlung. Bericht der technischwissenschaftlichen Sachverständigenausschüsse des Reichskohlerates C-52. Berlin: VDI Verlag: 1933.
53. Weibull W. A statistical distribution of wide applicability. Transact Am Soc Mech Eng: J Appl Mech 1951; 73:293-297.
54. Brockmeier D, Lückel G. HOEGIP-PC: An Interactive Program Package for the Evaluation of Pharmacokinetic and Pharmacodynamic Data. User Manual. Internal Report. Frankfurt/Main: Hoechst AG; 1991.
55. Gauss CF. Theoria motus corporum coelestium in sectionibus conicis solem ambientium. Lib II, Sect III, Hamburgi Sumtibus. Hamburg: Perthes und Besser; 1809.
56. Moyer Ca, Bush JJ, Ruley BT. The Weibull distribution function for fatigue life. Mat Res Stand 1962; 2:405-411.
57. Yamaoka K, Nakagawa T, Undo T. Application of Akaike's information criterion (AIC) in the evaluation of linear pharmacokinetic equations. J Pharmacokin Biopharm 1978; 6:165-175.
58. McDonald OG, Krynetski EY, Evans WE. Molecular haplotyping of genomic DNA for multiple single-nucleotide polymorphisms located kilobases apart using long-range polymerase chain reaction and intramolecular ligation. Pharmacogenetics 2002; 12:93-99.
59. Jacqz-Aigrain E, Bessa E, Medard Y, Mircheva Y, Vilmer E. Thiopurine methyltransferase activity in a French population: h.p.l.c. assay conditions and effects of drugs and inhibitors. Br J Clin Pharmacol 1994; 38:1-8.
60. Weinshilboum RM, Otterness DM, Szumlanski CL. Methylation pharmacogenetics: catechol O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase. Annu Rev Pharmacol Toxicol 1999; 39:19-52.
61. Yan L, Zhang S, Eiff B, Szumlanski CL, Powers M, O'Brien JF, Weinshilboum RM. Thiopurine methyltransferase polymorphic tandem repeat: genotype-phenotype correlation analysis. Clin Pharmacol Ther 2000; 68:210-219.
62. Vuchetich JP, Weinshilboum RM, Price RA. Segregation analysis of human red blood cell thiopurine methyltransferase activity. Genet Epidemiol 1995; 12:1-11.
63. Langley PG, Underhill J, Tredger JM, Norris S, McFarlane IG. Thiopurine methyltransferase phenotype and genotype in relation to azathioprine therapy in autoimmune hepatitis. J Hepatol 2002; 37:441-447.
64. McLeod HL, Krynetski EY, Relling MV, Evans WE. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia 2000; 14:567-572.
65. Tai HL, Krynetski EY, Schuetz EG, Yanishevski Y, Evans WE. 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; 94:6444-6449.
66. Tai HL, Fessing MY, Bonten EJ, Yanishevsky Y, d'Azzo A, Krynetski EY, et al. Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C. Pharmacogenetics 1999; 9:641-650.
67. Klemetsdale B, Wist E, Aarbakke J. Gender difference in red blood cell thiopurine methyltransferase activity. Scand J Clin Lab Invest 1993; 53:747-749.
68. Szumlanski CL, Honchel R, Scott MC, Weinshilboum RM. Human liver thiopurine methyltransferase pharmacogenetics: biochemical properties, liver-erythrocyte correlation and presence of isozymes. Pharmacogenetics 1992; 2:148-159.
69. Tinel M, Berson A, Pessayre D, Letteron P, Cattoni MP, Horsmans Y, et al. Pharmacogenetics of human erythrocyte thiopurine methyltransferase activity in a French population. Br J Clin Pharmacol 1991; 32:729-734.
70. Woodson LC, Maus TP, Reiter C, Weinshilboum RM. Rat thiopurine methyltransferase: regulation by testosterone. J Pharmacol Exp Ther 1981; 218:734-738.
71. Panayiotidis MI, Stabler SP, Allen RH, Ahmad A, White CW. Cigarette smoke extract increases S-adenosylmethionine and cystathionine in human lung epithelial-like (A549) cells. Chem Biol Interact 2004; 147:87-97.
72. Pazmino PA, Sladek SL, Weinshilboum RM. Thiol S-methylation in uremia: erythrocyte enzyme activities and plasma inhibitors. Clin Pharmacol Ther 1980; 28:356-367.