Pyrosequencing of TPMT Alleles in a General Swedish Population and in Patients with Inflammatory Bowel Disease

Clinical Chemistry

Volumn 50, Issue 2, 2004, Pages 288-295

  Haglund, Sofie ^a,b   Lindqvist, Malin ^b   Almer, Sven ^b   Peterson, Curt ^b   Taipalensuu, Jan ^a  

^a RYHOV COUNTY HOSPITAL   (Sweden)

^b LINKÖPING UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

THIOPURINE METHYLTRANSFERASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENTERITIS; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; PHENOTYPE; POPULATION GENETICS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; WILD TYPE;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; FEMALE; GENETIC SCREENING; GENOTYPE; HUMANS; INFLAMMATORY BOWEL DISEASES; MALE; METHYLTRANSFERASES; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SWEDEN;

STAPHYLOCOCCUS PHAGE 3A;

EID: 0742269633     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2003.023846     Document Type: Article

References (44)

1. 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.
2. Szumlanski C, Ottemess 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.
3. McLeod HL, Krynetski EY, Relling MV, Evans WE. Genetic polymorphism of thiopurine S-methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia [Review]. Leukemia 2000;14:567-72.
4. Moyer TP, Pippenger CE. Therapeutic drug monitoring. In: Burtis CA, Ashwood ER, eds. Tietz textbook of clinical chemistry, 2nd ed. Philadelphia: WB Saunders, 1994:1094-110.
5. Spire-Vayron de la Moureyre C, Debuysère H, Sabbagh N, Marez D, Vinner E, Dnay Chevalier E, et al. Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation analysis. Hum Mutat 1998;12:177-85.
6. Alves S, Prata MJ, Ferreira F, Amorim A. Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis. Hum Mutat 2000;15:246-53.
7. Fessing MY, Krynetski EY, Schuetz JD, Evans WE. Structural and functional analysis of the human TPMT gene promotor. Purine and pyrimidine metabolism in man IX. New York: Plenum Press, 1998;315-8.
8. 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;101:1036-44.
9. Krynetski EY, Schuets 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 U S A 1995;92:949-53.
10. Dubinsky MC, Yang H, Hassard PV, Seidman EG, Kam LY, Abreu MT, et al. 6-MP metabolite profiles provide a biochemical explanation for 6-MP resistance in patients with inflammatory bowel disease. Gastroenterology 2002;122:904-15.
11. Lennard L. The clinical pharmacology of 6-mercaptopurine. Eur J Clin Pharmacol 1992;43:329-39.
12. Weinshilboum R. Thiopurine pharmacogenetics: clinical and molecular studies of thiopurine methyltransferase. Drug Metab Dispos Biol Fate Chem 2001;29:601-5.
13. Lennard L, Van Loon JA, Weinshilboum RM. Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin Pharmacol Ther 1989;46:149-54.
14. Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 1990;336:225-9.
15. Tai HL, Krynetski EY, Yates CR, Loennechen T, Fessing MY, Krynetskaia NF, et al. Thiopurine S-methyltransferase deficiency: two nucleotide transition define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am J Hum Genet 1996;58:694-702.
16. 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;8:371-6.
17. Schaeffeler E, Stanulla M, Greil J, Schrappe M, Eichelbaum M, Zanger UM, et al. A novel TPMT missense mutation associated with TPMT deficiency in a 5-year-old boy with ALL. Leukemia 2003;17:1422-4.
18. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980;32:651-62.
19. Krynetski EY, Tai HL, Yates CR, Fessing MY, Loennechen T, Shuetz JD, et al. Genetic polymorphisms of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics 1996;6:279-90.
20. McLeod HL, Lin JS, Scott EP, Pui CH, Evans WE. Thiopurine methyltransferase activity in American white subjects and black subjects. J Clin Pharm Ther 1994;55:15-20.
21. Loennechen T, Utsi E, Harts I, Lysaa R, Kildasen 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;70:183-8.
22. 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;125:879-87.
23. 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;9:773-6.
24. Collie-Duguid ES, Pritchard SC, Powrie RH, Sludden J, Collier DA, Li T, et al. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics 1999;9:37-42.
25. Ameyaw MM, Collie-Duguid ES, Powrie RH, Ofori-Adjei D, McLeod HL. Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet 1999;8:367-70.
26. Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL, Pui C, et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 1997;126:608-14.
27. Hiratsuka M, Inou T, Omori F, Agatsuma Y, Mizugaki M. Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. Mutat Res 2000;448:91-5.
28. Schaeffeler E, Lang T, Zanger UM, Eichelbaum M, Schwab M. High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC. Clin Chem 2001;47:548-55.
29. Schütz E, von Ahsen N, Oellerich M. Genotyping of eight thiopurine methyltransferase mutations: three-color multiplexing, "two-color/ shared" anchor, and fluorescence-quenching hybridization probe assay based on thermodynamic nearest-neighbor probe design. Clin Chem 2000;46:1728-37.
30. Pettersson B, Almer S, Albertioni F, Söderhäll S, Peterson C. Differences between children and adults in thiopurine methyltransferase activity and metabolite formation during thiopurine therapy: possible role of concomitant methotrexate. Ther Drug Monit 2002;24:351-8.
31. Rozen S, Skaletsky HJ. Primer 3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S, eds. Bioinformatics methods and protocols: methods in molecular biology. Totowa, NJ: Human Press, 2000:365-86.
32. 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;118:1025-30.
33. Rossi AM, Blanchi M, Guarnieri C, Barale R, Pacifici GM. Genotype-phenotype correlation for thiopurine S-methyltransferase in healthy Italian subjects. Eur J Clin Pharmacol 2001;57:51-4.
34. Coulthard SA, Howell C, Robson J, Hall AG. The relationship between thiopurine methyltransferase activity and genotype in blasts from patients with acute leukemia. Blood 1998;92:2856-62.
35. Lowry PW, Szumlanski CL, Weinshilboum RM, Sandborn WJ. Balsalazide and azathioprine or 6-mercaptopurine: evidence for a potentially serious drug interaction. Gastroenterology 1999;116: 1505-6.
36. Szumlanski CL, Weinshilboum RM. Sulphalazine inhibition of thiopurine methyltransferase: possible mechanism for interaction with 6-mercaptopurine and azathioprine. Br J Clin Pharmacol 1995;39:456-9.
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;62:464-75.
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;49:656-64.
39. Lowry PW, Franklin CL, Weaver AL, Pike MG, Mays DC, Tremaine WJ, et al. Measurement of thiopurine methyltransferase activity and azathioprine metabolites in patients with inflammatory bowel disease. Gut 2001;49:665-70.
40. Sivertsson Å, Platz A, Hansson J, Lundeberg J. Pyrosequencing as an alternative to single-strand conformation polymorphism analysis for detection of N-ras mutations in human melanoma metastases. Clin Chem 2002;48:2164-70.
41. Ahmadian A, Lundeberg J, Nyrén P, Uhlén M, Ronaghi M. Analysis of the p53 tumor suppressor gene by pyrosequencing. Biotechniques 2000;28:140-7.
42. Ringquist S, Alexander AM, Rudert WA, Styche A, Trucco M. Pyrosequence based typing of alleles of the HLA-DQB1 gene. Biotechniques 2002;33:166-75.
43. 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;12:93-9.
44. Hiratsuka M, Agatsuma Y, Omori F, Narahara K, Inou T, Kishikawa Y, et al. High throughput detection of drug-metabolizing enzyme polymorphisms by allele-specific fluorogenic 5′nuclease chain reaction assay. Biol Pharm Bull 2000;23:1131-5.