TPMT

Summary

Gene Symbol: TPMT
Description: thiopurine S-methyltransferase
Alias: TPMTD, thiopurine S-methyltransferase, S-adenosyl-L-methionine:thiopurine S-methyltransferase
Species: human
Products:     TPMT

Top Publications

  1. Alvarez L L, Venegas S M, Larrondo L M, Becerra B N, Castro L A, Quera P R. [Thiopurine S-methyltransferase gene polymorphism in Chilean blood donors]. Rev Med Chil. 2009;137:185-92 pubmed publisher
    Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme that catalyzes the S-methylation of 6-mercaptopurine and azathioprine. Low-activity phenotypes are correlated with polymorphism in the TPMT gene...
  2. Tai H, Krynetski E, Schuetz E, Yanishevski Y, Evans W. 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 U S A. 1997;94:6444-9 pubmed
    b>TPMT is a cytosolic enzyme that catalyzes the S-methylation of aromatic and heterocyclic sulfhydryl compounds, including medications such as mercaptopurine and thioguanine...
  3. Otterness D, Szumlanski C, Lennard L, Klemetsdal B, Aarbakke J, Park Hah J, et al. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin Pharmacol Ther. 1997;62:60-73 pubmed
    Thiopurine methyltransferase (TPMT) catalyzes the S-methylation of thiopurine drugs. TPMT activity is regulated by a common genetic polymorphism that is associated with large individual variations in thiopurine toxicity and efficacy...
  4. Ameyaw M, Collie Duguid E, Powrie R, Ofori Adjei D, McLeod H. Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet. 1999;8:367-70 pubmed
    Thiopurine methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs such as 6-mercapto-purine, 6-thioguanine and azathioprine...
  5. Collie Duguid E, Pritchard S, Powrie R, Sludden J, Collier D, Li T, et al. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics. 1999;9:37-42 pubmed
    ..The wild-type allele is defined as TPMT*1 and the mutant alleles are TPMT*2 (G238C), TPMT*3A (G460A and A719G), TPMT*3B (G460A) and TPMT*3B (A719G)...
  6. Kim J, Cheon J, Hong S, Eun C, Byeon J, Hong S, et al. Influences of thiopurine methyltransferase genotype and activity on thiopurine-induced leukopenia in Korean patients with inflammatory bowel disease: a retrospective cohort study. J Clin Gastroenterol. 2010;44:e242-8 pubmed publisher
    ..The purpose of this study was to investigate the relative risk of the thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) genotypes and TPMT activity for the development of leukopenia in ..
  7. Kham S, Tan P, Tay A, Heng C, Yeoh A, Quah T. Thiopurine methyltransferase polymorphisms in a multiracial asian population and children with acute lymphoblastic leukemia. J Pediatr Hematol Oncol. 2002;24:353-9 pubmed
    The purpose of this study was to determine the frequency of thiopurine methyltransferase (TPMT) polymorphisms in a multiracial Asian population and to assess its relevance in the management of childhood acute lymphoblastic leukemia (ALL)...
  8. Chang J, Lee L, Chen C, Shih M, Wu M, Tsai F, et al. Molecular analysis of thiopurine S-methyltransferase alleles in South-east Asian populations. Pharmacogenetics. 2002;12:191-5 pubmed
    Thiopurine S-methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs. In Caucasians, four variant TPMT alleles have been detected in over 80% of individuals with low or intermediate TPMT activity...
  9. Takatsu N, Matsui T, Murakami Y, Ishihara H, Hisabe T, Nagahama T, et al. Adverse reactions to azathioprine cannot be predicted by thiopurine S-methyltransferase genotype in Japanese patients with inflammatory bowel disease. J Gastroenterol Hepatol. 2009;24:1258-64 pubmed publisher
    ..We examined polymorphism of the thiopurine S-methyltransferase (TPMT) gene to determine whether the TPMT genotype would be a predictive marker for the development of adverse reactions ..

More Information

Publications85

  1. Schaeffeler E, Fischer C, Brockmeier D, Wernet D, Moerike K, Eichelbaum M, et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics. 2004;14:407-17 pubmed
    The thiopurine S-methyltransferase (TPMT) genetic polymorphism has a significant clinical impact on the toxicity of thiopurine drugs...
  2. Dong X, Zheng Q, Zhu M, Tong J, Ran Z. Thiopurine S-methyltransferase polymorphisms and thiopurine toxicity in treatment of inflammatory bowel disease. World J Gastroenterol. 2010;16:3187-95 pubmed
    To evaluate the relationship between thiopurine S-methyltransferase (TPMT) polymorphisms and thiopurine-induced adverse drug reactions (ADRs) in inflammatory bowel disease (IBD)...
  3. Krynetski E, Tai H, Yates C, Fessing M, Loennechen T, Schuetz J, et al. Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics. 1996;6:279-90 pubmed
    Thiopurine S-methyltransferase (TPMT) catalyses the S-methylation of thiopurines such as mercaptopurine and thioguanine...
  4. Jun J, Cho D, Kang C, Bae S. Thiopurine S-methyltransferase polymorphisms and the relationship between the mutant alleles and the adverse effects in systemic lupus erythematosus patients taking azathioprine. Clin Exp Rheumatol. 2005;23:873-6 pubmed
    The present study sought to elucidate the genetic basis of thiopurine methyltransferase (TPMT) polymorphism and subsequently to investigate the relationship between mutant TPMT and an adverse response observed in Korean patients with ..
  5. Stocco G, Martelossi S, Barabino A, Fontana M, Lionetti P, Decorti G, et al. TPMT genotype and the use of thiopurines in paediatric inflammatory bowel disease. Dig Liver Dis. 2005;37:940-5 pubmed
    ..They are metabolised via methylation by thiopurine-S-methyltransferase (TPMT), which displays a genetically determined polymorphic activity...
  6. Dervieux T, Meyer G, Barham R, Matsutani M, Barry M, Boulieu R, et al. Liquid chromatography-tandem mass spectrometry analysis of erythrocyte thiopurine nucleotides and effect of thiopurine methyltransferase gene variants on these metabolites in patients receiving azathioprine/6-mercaptopurine therapy. Clin Chem. 2005;51:2074-84 pubmed
    Polymorphic thiopurine S-methyltransferase (TPMT) is a major determinant of thiopurine toxicity...
  7. Tai H, Krynetski E, Yates C, Loennechen T, Fessing M, Krynetskaia N, 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 pubmed
    The autosomal recessive trait of thiopurine S-methytransferase (TPMT) deficiency is associated with severe hematopoietic toxicity when patients are treated with standard doses of mercaptopurine, azathioprine, or thioguanine...
  8. Cao Q, Zhu Q, Shang Y, Gao M, Si J. Thiopurine methyltransferase gene polymorphisms in Chinese patients with inflammatory bowel disease. Digestion. 2009;79:58-63 pubmed publisher
    ..variability exists in the efficacy and toxicity of the drugs, and this results from thiopurine methyltransferase (TPMT) gene polymorphisms...
  9. Lennard L, Cartwright C, Wade R, Richards S, Vora A. Thiopurine methyltransferase genotype-phenotype discordance and thiopurine active metabolite formation in childhood acute lymphoblastic leukaemia. Br J Clin Pharmacol. 2013;76:125-36 pubmed publisher
    ..marrow activity can influence red blood cell (RBC) kinetics, the surrogate tissue for thiopurine methyltransferase (TPMT) measurements...
  10. Carvalho A, Esberard B, Fróes R, Rapozo D, Grinman A, Simao T, et al. Thiopurine-methyltransferase variants in inflammatory bowel disease: prevalence and toxicity in Brazilian patients. World J Gastroenterol. 2014;20:3327-34 pubmed publisher
    To analyze the prevalence of thiopurine-methyltransferase (TPMT) genotypes and their association with drug toxicity in inflammatory bowel disease (IBD) patients from southeastern Brazil...
  11. 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;51:475-7 pubmed
    To determine the frequencies of four thiopurine S-methyltransferase (TPMT) mutant alleles, TPMT*2, *3A, *3B and *3C in a normal Japanese population...
  12. Hiratsuka M, Inoue T, Omori F, Agatsuma Y, Mizugaki M. Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. Mutat Res. 2000;448:91-5 pubmed
    Thiopurine methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs such as 6-mercaptopurine, 6-thioguanine, and azathiopurine...
  13. Schwab M, Schäffeler 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;12:429-36 pubmed
    ..Whereas azathioprine-related pancytopenia has been clearly linked to thiopurine S-methyltransferase (TPMT) polymorphism limited data are available to explain gastrointestinal side effects...
  14. Kapoor G, Sinha R, Naithani R, Chandgothia M. Thiopurine S-methyltransferase gene polymorphism and 6-mercaptopurine dose intensity in Indian children with acute lymphoblastic leukemia. Leuk Res. 2010;34:1023-6 pubmed publisher
    The prevalence of thiopurine S-methyltransferase (TPMT) polymorphism and its association with clinical and hematological toxicities was retrospectively analyzed in 71 Indian children with acute lymphoblastic leukemia (ALL)...
  15. Yates C, Krynetski E, Loennechen T, Fessing M, Tai H, 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 pubmed
    Thiopurine S-methyltransferase (TPMT) catalyzes the S-methylation (that is, inactivation) of mercaptopurine, azathioprine, and thioguanine and exhibits genetic polymorphism...
  16. Uchiyama K, Nakamura M, Kubota T, Yamane T, Fujise K, Tajiri H. Thiopurine S-methyltransferase and inosine triphosphate pyrophosphohydrolase genes in Japanese patients with inflammatory bowel disease in whom adverse drug reactions were induced by azathioprine/6-mercaptopurine treatment. J Gastroenterol. 2009;44:197-203 pubmed publisher
    ..adverse reactions is a reduction in the activities of the metabolizing enzymes thiopurine S-methyltransferase (TPMT) and inosine triphosphate pyrophosphohydrolase (ITPA)...
  17. Ansari A, Arenas M, Greenfield S, Morris D, Lindsay J, Gilshenan K, et al. Prospective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel disease. Aliment Pharmacol Ther. 2008;28:973-83 pubmed publisher
    ..Serial clinical response, thiopurine methyl transferase (TPMT) activity and thioguanine nucleotide (TGN) concentrations were measured over 6 months...
  18. Kham S, Soh C, Liu T, Chan Y, Ariffin H, Tan P, et al. Thiopurine S-methyltransferase activity in three major Asian populations: a population-based study in Singapore. Eur J Clin Pharmacol. 2008;64:373-9 pubmed publisher
    The distribution of thiopurine methyltransferase (TPMT) activity in Asian populations has not been well documented...
  19. Ban H, Andoh A, Imaeda H, Kobori A, Bamba S, Tsujikawa T, et al. The multidrug-resistance protein 4 polymorphism is a new factor accounting for thiopurine sensitivity in Japanese patients with inflammatory bowel disease. J Gastroenterol. 2010;45:1014-21 pubmed publisher
    ..Direct sequencing of the MRP4 exon 18 was performed. The TPMT A719G and ITPase C94A polymorphisms were determined by polymerase-chain reaction-restriction fragment length ..
  20. Higgs J, Payne K, Roberts C, Newman W. Are patients with intermediate TPMT activity at increased risk of myelosuppression when taking thiopurine medications?. Pharmacogenomics. 2010;11:177-88 pubmed publisher
    Thiopurine S-methyltransferase (TPMT) metabolizes thiopurine medications, including azathioprine and 6-mercaptopurine. Absent TPMT activity (i.e...
  21. Ford L, Kampanis P, Berg J. Thiopurine S-methyltransferase genotype-phenotype concordance: used as a quality assurance tool to help control the phenotype assay. Ann Clin Biochem. 2009;46:152-4 pubmed publisher
    As part of the quality control system for our TPMT phenotyping service we monitor the genotype-phenotype concordance for patient samples with deficient and low TPMT activity...
  22. Silva M, de Oliveira B, Viana M, Murao M, Romanha A. Thiopurine S-methyltransferase (TPMT) gene polymorphism in Brazilian children with acute lymphoblastic leukemia: association with clinical and laboratory data. Ther Drug Monit. 2008;30:700-4 pubmed publisher
    The frequency of allele variants of gene TPMT*2, *3A, *3B, and *3C was estimated in a population of 116 Brazilian children with acute lymphoblastic leukemia...
  23. Lee S, Kim W, Jang Y, Shin J. Duplex pyrosequencing of the TPMT*3C and TPMT*6 alleles in Korean and Vietnamese populations. Clin Chim Acta. 2008;398:82-5 pubmed publisher
    Thiopurine S-methyltransferase (TPMT) genetic polymorphisms have been studied intensively in relation to thiopurine toxicity...
  24. Boson W, Romano Silva M, Correa H, Falcao R, Teixeira Vidigal P, De Marco L. Thiopurine methyltransferase polymorphisms in a Brazilian population. Pharmacogenomics J. 2003;3:178-82 pubmed
    Thiopurine methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs. Low-activity phenotypes are correlated with several mutations in the TPMT gene...
  25. Lu H, Shih M, Hsueh S, Chen C, Chang J, Chang J. Molecular analysis of the thiopurine S-methyltransferase alleles in Bolivians and Tibetans. J Clin Pharm Ther. 2005;30:491-6 pubmed
    Thiopurine drugs are used as immunosuppressant or cytotoxic drugs. Thiopurine S-methyltransferase (TPMT) methylates and thereby modulates the therapeutic and toxic effects of these drugs...
  26. Stocco G, Martelossi S, Barabino A, Decorti G, Bartoli F, Montico M, et al. Glutathione-S-transferase genotypes and the adverse effects of azathioprine in young patients with inflammatory bowel disease. Inflamm Bowel Dis. 2007;13:57-64 pubmed
    ..occur in 15%-38% of patients and the majority are not explained by thiopurine-S-methyltransferase (TPMT) deficiency...
  27. Derijks L, Gilissen L, Engels L, Bos L, Bus P, Lohman J, et al. Pharmacokinetics of 6-thioguanine in patients with inflammatory bowel disease. Ther Drug Monit. 2006;28:45-50 pubmed
    ..measures included mean 6-TGN concentrations (+/-95% confidence interval [CI95%]) and their associations with TPMT genotype, 6-TG dose, and hematological, hepatic, pancreatic, and efficacy parameters during the 8 week period...
  28. Zelinkova Z, Derijks L, Stokkers P, Vogels E, van Kampen A, Curvers W, et al. Inosine triphosphate pyrophosphatase and thiopurine s-methyltransferase genotypes relationship to azathioprine-induced myelosuppression. Clin Gastroenterol Hepatol. 2006;4:44-9 pubmed
    ..Mutations in the thiopurine S-methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) genes have been associated with the occurrence of AZA-related ..
  29. Zhan Z, Liang L, Yang X, Wang Y, Huang M, Li H. [Association between metabolic enzyme genotype of azathioprine and drug tolerance in patients with rheumatic diseases]. Zhonghua Yi Xue Za Zhi. 2007;87:1734-7 pubmed
    To discuss the relationship between the genotype of thiopurine methyltransferase (TPMT) and azathioprine tolerance in the patients with rheumatic diseases...
  30. Bermejo F, Aguas M, Chaparro M, Domenech E, Echarri A, Garcia Planella E, et al. Recommendations of the Spanish Working Group on Crohn's Disease and Ulcerative Colitis (GETECCU) on the use of thiopurines in inflammatory bowel disease. Gastroenterol Hepatol. 2018;41:205-221 pubmed publisher
    ..Determination of thiopurine methyltransferase activity (TPMT) is not mandatory but it increases initial safety. The appropriate dose is 2.5mg/kg/day for azathioprine and 1...
  31. Zgheib N, Akika R, Mahfouz R, Aridi C, Ghanem K, Saab R, et al. NUDT15 and TPMT genetic polymorphisms are related to 6-mercaptopurine intolerance in children treated for acute lymphoblastic leukemia at the Children's Cancer Center of Lebanon. Pediatr Blood Cancer. 2017;64:146-150 pubmed publisher
    ..variability in thiopurine-related toxicity could not be completely explained by thiopurine S-methyltransferase (TPMT) polymorphisms, as a number of patients who are homozygous wild type or normal for TPMT still develop toxicity that ..
  32. Park S, Hong M, Ye B, Kim K, Park S, Yang D, et al. Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease. Scand J Gastroenterol. 2016;51:684-91 pubmed publisher
    The impact of genetic variation in the thiopurine S-methyltransferase (TPMT) gene on thiopurine-induced leukopenia has been well demonstrated...
  33. González del Angel A, Bermúdez López C, Alcántara Ortigoza M, Vela Amieva M, Castillo Cruz R, Martinez V, et al. Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns. J Clin Pharm Ther. 2009;34:703-8 pubmed publisher
    Thiopurine S-methyltransferase (TPMT) is involved in the toxicity and therapeutic efficacy of thiopurine drugs, and its gene exhibits genetic polymorphisms that differ across diverse populations...
  34. Krynetski E, Schuetz J, Galpin A, Pui C, Relling M, Evans W. 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 pubmed
    Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase, EC 2.1.1.67) activity exhibits genetic polymorphism, with approximately 0...
  35. Bezier M, Reguiai Z, Vitry F, Broly F, Bernard P. Thiopurine S-methyltransferase genotypic analysis in autoimmune bullous diseases. Eur J Dermatol. 2008;18:512-7 pubmed publisher
    Thiopurine S-methyltransferase (TPMT) activity is inversely related to the risk of developing severe hematopoietic toxicity in patients treated with azathioprine...
  36. Moreau B, Clement P, Theoret Y, Seidman E. Allopurinol in combination with thiopurine induces mucosal healing and improves clinical and metabolic outcomes in IBD. Therap Adv Gastroenterol. 2017;10:819-827 pubmed publisher
    ..Excessive methylation via thiopurine methyltransferase (TPMT) frequently causes therapeutic failure...
  37. Neuraz A, Chouchana L, Malamut G, Le Beller C, Roche D, Beaune P, et al. Phenome-wide association studies on a quantitative trait: application to TPMT enzyme activity and thiopurine therapy in pharmacogenomics. PLoS Comput Biol. 2013;9:e1003405 pubmed publisher
    ..We tested our approach on thiopurine S-methyltransferase (TPMT) activity in patients treated by thiopurine drugs...
  38. Broekman M, Coenen M, Wanten G, Van Marrewijk C, Klungel O, Verbeek A, et al. Risk factors for thiopurine-induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype. Aliment Pharmacol Ther. 2017;46:953-963 pubmed publisher
    Leucopenia is a common side effect in patients treated with thiopurines. Variants in the thiopurine S-methyltransferase (TPMT) gene are the best-known risk factor, but only explain up to 25% of leucopenia cases.
  39. Hagleitner M, Coenen M, Patino Garcia A, de Bont E, Gonzalez Neira A, Vos H, et al. Influence of genetic variants in TPMT and COMT associated with cisplatin induced hearing loss in patients with cancer: two new cohorts and a meta-analysis reveal significant heterogeneity between cohorts. PLoS ONE. 2014;9:e115869 pubmed publisher
    ..It has been suggested that genetic variants in the genes encoding thiopurine S-methyltransferase (TPMT) and catechol O-methyltransferase (COMT) can predict the development of cisplatin-induced ototoxicity and may ..
  40. Ladic A, Bozina N, Borzan V, Brinar M, Vucelic B, Cukovic Cavka S. AN EPIDEMIOLOGICAL STUDY OF THIOPURINE-METHYLTRANSFERASE VARIANTS IN A CROATIAN INFLAMMATORY BOWEL DISEASE PATIENT COHORT. Acta Clin Croat. 2016;55:16-22 pubmed
    Thiopurine S-methyltransferase (TPMT) is an enzyme that converts thiopurine drugs into inactive metabolites. Over 20 variant TPMT-encoding alleles, which cause reduced enzymatic activity, have been discovered so far...
  41. Jung H, Choe J, Park S, Kim S. Invasive aspergillosis related with azathioprine-induced leucopenia without mutant allele of thioprine methyltransferase in a patient with rheumatoid arthritis. Rheumatol Int. 2011;31:701-3 pubmed publisher
  42. Wray L, Vujkovic M, MCWILLIAMS T, Cannon S, Devidas M, Stork L, et al. TPMT and MTHFR genotype is not associated with altered risk of thioguanine-related sinusoidal obstruction syndrome in pediatric acute lymphoblastic leukemia: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2014;61:2086-8 pubmed publisher
    ..We assessed TPMT *3A, *3B, *3C, and MTHFR C677T and A1298C germline genetic polymorphisms among 351 patients enrolled in the ..
  43. Almoguera B, Vazquez L, Connolly J, Bradfield J, Sleiman P, Keating B, et al. Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes. Front Genet. 2014;5:96 pubmed publisher
    The activity of thiopurine methyltransferase (TPMT) is subject to genetic variation...
  44. Pakakasama S, Kanchanakamhaeng K, Kajanachumpol S, Udomsubpayakul U, Sirachainan N, Thithapandha A, et al. Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia. Ann Hematol. 2007;86:609-11 pubmed
  45. Skrzypczak Zielinska M, Borun P, Milanowska K, Jakubowska Burek L, Zakerska O, Dobrowolska Zachwieja A, et al. High-resolution melting analysis of the TPMT gene: a study in the Polish population. Genet Test Mol Biomarkers. 2013;17:153-9 pubmed publisher
    The thiopurine S-methyltransferase (TPMT) gene encoding thiopurine methyltransferase is a crucial enzyme in metabolism of thiopurine drugs: azathioprine and 6-mercoptopurine, which are used in the treatment of leukemia or inflammatory ..
  46. Kubota T, Nishida A, Takeuchi K, Iida T, Yokota H, Higashi K, et al. Frequency distribution of thiopurine S-methyltransferase activity in red blood cells of a healthy Japanese population. Ther Drug Monit. 2004;26:319-21 pubmed
    Thiopurine S-methyltransferase (TPMT), which exhibits a genetic polymorphism, plays an important role in the metabolism of thiopurine drugs such as mercaptopurine, thioguanine, and azathioprine...
  47. Ashavaid T, Raghavan R, Shah S, Kapadia A, Almel S, Desai D. TPMT and DPD polymorphisms: Efficient screening method for Indian patients considering taking Thiopurine and 5-FU drugs. Dis Markers. 2009;27:231-8 pubmed publisher
    Development of DNA-based tests for TPMT/DPD polymorphisms can help clinicians and patients to make important decisions about cancer treatment...
  48. Ghobadi F, Vaisi raygani A, Bahrehmand F, Tanhapour M, Kiani A, Rahimi Z, et al. Genetic Variants of Pre-microRNAs A-499G(rs3746444) and T-196a2C(rs11614913) with Ulcerative Colitis (UC) and Investigated with Thiopurine-S-Methyltransferase (TPMT) Activity. Clin Lab. 2017;63:1683-1690 pubmed publisher
    ..We aimed to evaluate the association of two SNPs (miRNA-A-499G(rs3746444) and miRNA-T196a2C(rs11614913)) with the risk of UC and monitor their effect on thiopurine-S-methyltransferase (TPMT) activity in Kurdish population of Iran.
  49. Corominas H, Domenech M, del Rio E, Gich I, Domingo P, Baiget M. [Frequency of thiopurine S-methyltransferase alleles in different ethnic groups living in Spain]. Med Clin (Barc). 2006;126:410-2 pubmed
    Thiopurine S-methyltransferase (TPMT) metabolizes thiopurine drugs regulating their cytotoxicity and clinical response...
  50. Lindqvist M, Skoglund K, Karlgren A, Söderkvist P, Peterson C, Kidhall I, et al. Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23. Pharmacogenet Genomics. 2007;17:891-5 pubmed
    Thiopurine methyltransferase (TPMT) is a polymorphic enzyme involved in the metabolism of thiopurine drugs. Owing to polymorphisms in the TPMT gene (TPMT*2-*22), the enzyme activity varies interindividually...
  51. Martínez Faci C, Ros Arnal I, Martínez de Zabarte Fernández J, Sorribes Estorch J, López Campos M, Rodriguez Vigil Iturrate C. [Azathioprine-induced pancytopenia: case series]. Arch Argent Pediatr. 2016;114:e252-5 pubmed publisher
    ..Ante un paciente con neutropenia grave y fiebre, debe iniciarse un tratamiento antibiótico empírico precoz para evitar infecciones graves y diseminadas. Se presentan dos casos con esta complicación. ..
  52. Coulthard S, Matheson E, Hall A, Hogarth L. The clinical impact of thiopurine methyltransferase polymorphisms on thiopurine treatment. Nucleosides Nucleotides Nucleic Acids. 2004;23:1385-91 pubmed
    ..Variation in the level of thiopurine methyltransferase (TPMT) activity appears to be a major molecular determinant of the extent of thiopurine metabolism...
  53. Arenas M, Simpson G, Lewis C, Shobowale Bakre E, Escuredo E, Fairbanks L, et al. Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity. Clin Chem. 2005;51:2371-4 pubmed
  54. Taja Chayeb L, Vidal Millan S, Gutierrez O, Ostrosky Wegman P, Duenas Gonzalez A, Candelaria M. Thiopurine S-methyltransferase gene (TMPT) polymorphisms in a Mexican population of healthy individuals and leukemic patients. Med Oncol. 2008;25:56-62 pubmed publisher
    Polymorphisms at the thiopurine S-methyltransferase coding gene (TPMT) determine enzyme activity and consequently, the development of toxicity secondary to thiopurines...
  55. Fazel Najafabadi E, Vahdat Ahar E, Fattahpour S, Sedghi M. Structural and functional impact of missense mutations in TPMT: An integrated computational approach. Comput Biol Chem. 2015;59 Pt A:48-55 pubmed publisher
    Thiopurine S-methyltransferase (TPMT) detoxifies thiopurine drugs which are used for treatment of various diseases including inflammatory bowel disease (IBD), and hematological malignancies...
  56. Moriyama T, Yang Y, Nishii R, Ariffin H, Liu C, Lin T, et al. Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry. Blood. 2017;130:1209-1212 pubmed publisher
    ..toxicities, which is partly explained by inherited genetic polymorphisms in drug metabolizing enzymes (eg, TPMT)...
  57. Kim H, Kim J, Kim M, Lee Y, Kang B, Choe Y, et al. Safe azathioprine treatment in a pediatric ulcerative colitis patient with TPMT*16 by thiopurine metabolite monitoring. Clin Chim Acta. 2014;437:101-2 pubmed publisher
  58. Davavala S, Desai D, Abraham P, Ashavaid T, Joshi A, Gupta T. Prevalence of TPMT polymorphism in Indian patients requiring immunomodulator therapy and its clinical significance. Indian J Gastroenterol. 2014;33:41-5 pubmed publisher
    Thiopurine methyltransferase (TPMT) enzyme plays a key role in the metabolism of azathioprine/6-mercaptopurine (6-MP)...
  59. Okada Y, Nakamura K, Wada M, Nakamura T, Tsukamoto N, Nojima Y, et al. Genotyping of thiopurine methyltransferase using pyrosequencing. Biol Pharm Bull. 2005;28:677-81 pubmed
    Thiopurine methyltransferase (TPMT) metabolizes thiopurine drugs which are used in the treatment of leukemia and some autoimmune diseases...
  60. Schaeffeler E, Eichelbaum M, Reinisch W, Zanger U, Schwab M. Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function. Hum Mutat. 2006;27:976 pubmed
    The genetic polymorphism of the thiopurine S-methyltransferase, TPMT, comprises at least 21 alleles causing three distinct drug metabolism phenotypes termed normal/high, intermediate, and deficient methylators...
  61. Shazia A, Seshadri M. Characterization of TPMT minisatellite locus in five ethnic groups of India. Genetika. 2009;45:137-41 pubmed
    ..for 18 bp VNTR repeat polymorphism present in the 5'flanking region of theThiopurine Methyl Transferase gene (TPMT)...
  62. Ben Salah L, Belkhiria El Haj Amor M, Chbili C, Khlifi S, Fathallah N, Bougmiza I, et al. Analysis of thiopurine S-methyltransferase phenotype-genotype in a Tunisian population with Crohn's disease. Eur J Drug Metab Pharmacokinet. 2013;38:241-4 pubmed publisher
    This study was conducted to investigate the thiopurine S-methyltransferase TPMT activity distribution and gene mutations in Tunisian population with positive diagnostic for Crohn's disease...
  63. Desatova B, Hlavaty T, Balakova D, Pav I, Celec P, Gregus M, et al. Prevalence of mutations in thiopurine S-methyltransferase gene among Slovak IBD patients. Bratisl Lek Listy. 2013;114:330-2 pubmed
    Thiopurine S-methyltransferase (TPMT) plays an important role in the metabolism of thiopurines. It has been suggested that TPMT genetic polymorphisms lead to dose-related hematopoietic toxicity...
  64. Moreno Guerrero S, Ramírez Pacheco A, Dorantes Acosta E, Medina Sanson A. [Analysis of genetic polymorphisms of thiopurine S-methyltransferase (TPMT) in Mexican pediatric patients with cancer]. Rev Invest Clin. 2013;65:156-64 pubmed
    Thiopurine S-Methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs, such as 6-mercaptopurine, 6-thioguanine and azathioprine, leading to their inactivation...
  65. Kotur N, Dokmanovic L, Janic D, Stankovic B, Krstovski N, Tosic N, et al. TPMT gene expression is increased during maintenance therapy in childhood acute lymphoblastic leukemia patients in a TPMT gene promoter variable number of tandem repeat-dependent manner. Pharmacogenomics. 2015;16:1701-12 pubmed publisher
    6-mercaptopurine influences in vitro TPMT gene expression in a TPMT promoter variable number of tandem repeats (VNTR)-dependent manner...
  66. Kotur N, Stankovic B, Kassela K, Georgitsi M, Vicha A, Leontari I, et al. 6-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner. Pharmacogenomics. 2012;13:283-95 pubmed publisher
    b>TPMT activity is characterized by a trimodal distribution, namely low, intermediate and high methylator...
  67. Desire S, Balasubramanian P, Bajel A, George B, Viswabandya A, Mathews V, et al. Frequency of TPMT alleles in Indian patients with acute lymphatic leukemia and effect on the dose of 6-mercaptopurine. Med Oncol. 2010;27:1046-9 pubmed publisher
    Functional polymorphisms in the thiopurine methyl transferase (TPMT) gene have been associated with varying levels of enzyme activity and the occurrence of toxicity related to thiopurines...
  68. Hawwa A, Collier P, Millership J, McCarthy A, Dempsey S, Cairns C, et al. Population pharmacokinetic and pharmacogenetic analysis of 6-mercaptopurine in paediatric patients with acute lymphoblastic leukaemia. Br J Clin Pharmacol. 2008;66:826-37 pubmed publisher
    ..9 to 29.3%). The most influential covariate examined, however, was thiopurine methyltransferase (TPMT) genotype, which resulted in the greatest reduction in the model's objective function (P < 0...
  69. Lee M, Seo J, Bang D, Kim D. Thiopurine S-Methyltransferase Polymorphisms in Korean Dermatologic Patients. Ann Dermatol. 2017;29:529-535 pubmed publisher
    Thiopurine S-methyltransferase (TPMT) is an important enzyme in the metabolism of thiopurines including azathioprine (AZA), 6-mercaptopurine, and 6-thioguanine...
  70. Lee S, Yang J. Pharmacogenomics in acute lymphoblastic leukemia. Best Pract Res Clin Haematol. 2017;30:229-236 pubmed publisher
    ..Some of these genomic associations (e.g. TPMT, NUDT15 and mercaptopurine dosing) have accumulated a significant level of evidence on their clinical utility such ..
  71. Cooper S, Ford L, Berg J, Lewis M. Ethnic variation of thiopurine S-methyltransferase activity: a large, prospective population study. Pharmacogenomics. 2008;9:303-9 pubmed publisher
    ..toxicity, especially myelosuppression, which is related to activity of the enzyme thiopurine S-methyltransferase (TPMT). TPMT activity varies between individuals and is considered deficient in one in 300 cases...
  72. Roberts R, Wallace M, Drake J, Stamp L. Identification of a novel thiopurine S-methyltransferase allele (TPMT*37). Pharmacogenet Genomics. 2014;24:320-3 pubmed publisher
    Thiopurine S-methyltransferase (TPMT) is a key enzyme in the methylation of the thiopurine drugs azathioprine and 6-mercaptopurine. TPMT is subject to genetic polymorphism that results in a trimodal distribution of enzyme activity...
  73. Reuther L, Vainer B, Sonne J, Larsen N. Thiopurine methyltransferase (TPMT) genotype distribution in azathioprine-tolerant and -intolerant patients with various disorders. The impact of TPMT genotyping in predicting toxicity. Eur J Clin Pharmacol. 2004;59:797-801 pubmed
    To study the distribution of the thiopurine methyltransferase (TPMT) genotype among azathioprine (Aza)-tolerant and -intolerant patients with various disorders, and to investigate a possible relationship with the Aza metabolite levels...
  74. Brownstein C, Margulies D, Manzi S. Misinterpretation of TPMT by a DTC genetic testing company. Clin Pharmacol Ther. 2014;95:598-600 pubmed publisher
    ..In the case described below, rare genotypes for the gene encoding thiopurine methyltransferase (TPMT) were misinterpreted by a direct-to-consumer (DTC) company, and risk calculations for breast cancer were offered ..
  75. Tamori A, Shinzaki M, Kosaka S, Hayashi T, Iwai S, Enomoto M, et al. Thiopurine S-methyltransferase gene polymorphism in Japanese patients with autoimmune liver diseases. Liver Int. 2007;27:95-100 pubmed
    Thiopurine S-methyltransferase (TPMT) genotypes or phenotypes may be a predictive factor for azathioprine-induced toxicities...
  76. Toft N, Nygaard U, Gregers J, Schmiegelow K. Genetic analyses of thiopurine methyltransferase polymorphisms in Greenlandic and Danish populations. Acta Paediatr. 2006;95:1665-7 pubmed
    To determine the frequency of thiopurine methyltransferase (TPMT) low-activity alleles in the Greenlandic and Danish populations...