TPMT, thiopurine S-methyltransferase, 7172

N. diseases: 83; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE White blood cell count-based dose adjustments are regularly performed for known TPMT- deficient patients and results in a reduced risk of neutropenia and febrile neutropenia. 31635813 2020
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease BEFREE The aim of this study was to investigate the influence of <i>NUDT15 R139C</i> and thiopurine S-methyltransferase (<i>TPMT</i>) on azathioprine (AZA) induced leukopenia in patients with autoimmune hepatitis (AIH) and related cirrhosis. 31024313 2019
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE TPMT and NUDT15 variants predict thiopurine-induced leukopenia. 31342537 2019
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE Apart from genetic variants in thiopurine S-methyltransferase (TPMT) and nudix hydrolase 15 (NUDT15) genes, polymorphisms in FTO alpha-ketoglutarate dependent dioxygenase (FTO) were found predictive of thiopurine-induced leukopenia, albeit with conflicting results. 31813937 2019
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease BEFREE The aim of this study was to investigate the influence of <i>NUDT15 R139C</i>, thiopurine S-methyltransferase (<i>TPMT</i>), and 6-TGN on azathioprine (AZA) induced leukopenia in Chinese autoimmune patients. 29867468 2018
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 AlteredExpression disease BEFREE TPMT genotype and tertiles of TPMT activity were compared to relapse free survival and occurrence of adverse events, particularly leukopenia. 29630648 2018
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE In this report, we first provide detailed clinical and laboratory characteristics of AZA-induced leukopenia in a patient with SS with a mutant NUDT15 R139C genotype (TT allele) and normal TPMT activity. 29702976 2018
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE Sixty hundred and ninety-five patients (90.6%) included in the TOPIC-trial had no variant in TPMT, of which 45 (6.5%) developed leucopenia. 28914446 2017
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE In addition to variation in TPMT (thiopurine S-methyltransferase), the NUDT15 p.R139C variant was recently identified to have a strong association with AZA-induced leukopenia. 28566182 2017
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease BEFREE This study aimed to determine the relationship between thiopurine metabolite levels and therapeutic response, and to investigate the association of NUDT15, TPMT, and thiopurine metabolites with leukopenia in patients with CD. 29206869 2017
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE There were strong associations of NUDT15 c.415C>T, c.36_37insGGAGTC, and c.52G>A with thiopurine-induced leukopenia (P = 1.81 × 10, P = 4.74 × 10 and P = 0.04, respectively), whereas there was no relevance for thiopurine S-methyltransferase genotypes (P = 0.25). 28570428 2017
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE Polymorphisms in TPMT might be associated with myelotoxicity and leukopenia in AZA treated patients, while ITPA variant alleles appear not to be linked with treatment-related side effects. 26674571 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE Three non-synonymous SNPs, which we previously reported association with thiopurine-induced leukopenia, NUDT15 (p.Arg139Cys), SUCLA2 (p.Ser199Thr), and TPMT *3C were selected for epistasis analysis with the XDH variants. 26863601 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease BEFREE TPMT genotyping is not a sensitive tool for predicting thiopurine-induced leukopenia. 27665263 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE However, TPMT genotype was not found to be correlated with the incidence of leukopenia (P = 0.44). 27604507 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease BEFREE TPMT*3C had a specificity of 100%, but a sensitivity of 8% for predicting leucopenia.A 6-TGN level between 225 and 420 pmol/8 × 10(8) RBC could be a therapeutic window in patients receiving AZA therapy, and it could likely predict leucopenia in the initial 12 weeks of AZA therapy and a reasonable chance of successful clinical response in CD patients. 27082580 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease BEFREE TPMT and NUDT15 gene sequencing was performed for patients who had experienced AZA-induced leukopenia. 26735160 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 AlteredExpression disease BEFREE Variants in the gene encoding thiopurine S-methyltransferase (TPMT) alter its enzymatic activity, resulting in higher levels of thiopurine metabolites, which can cause leukopenia. 26072396 2015
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE Heritable deficiency of TPMT enzyme activity and polymorphisms may lead to leukopenia. 24322830 2014
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE In Koreans, this variant demonstrated sensitivity and specificity of 89.4% and 93.2%, respectively, for thiopurine-induced early leukopenia (in comparison to 12.1% and 97.6% for TPMT variants). 25108385 2014
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease CTD_human In Koreans, this variant demonstrated sensitivity and specificity of 89.4% and 93.2%, respectively, for thiopurine-induced early leukopenia (in comparison to 12.1% and 97.6% for TPMT variants). 25108385 2014
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease BEFREE This study investigated the effects of TPMT and hypoxanthine guanine phosphoribosyltransferase (HPRT) activities on 6-thioguanine nucleotides (6-TGNs) concentrations and thiopurine-induced leukopenia in patients with IBD. 21381155 2012
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease CTD_human Variant genotype thiopurine S-methyltransferase predisposes to development of leucopenia (P = 0.003, OR = 5, CI 95 %, 1.8058-13.8444). 22535280 2012
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 GeneticVariation disease BEFREE Variant genotype thiopurine S-methyltransferase predisposes to development of leucopenia (P = 0.003, OR = 5, CI 95 %, 1.8058-13.8444). 22535280 2012
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.400 Biomarker disease BEFREE The TPMT*3C had a specificity of 100% (163/163) but a sensitivity of 5.56% (2/36) for predicting leucopenia. 23149442 2012