ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE A total of 96 children with ALL undergoing therapy with MCP-841 protocol were screened for all the ten exons of TPMT, exon 2, exon 3 and intron 2 of ITPA using bidirectional sequencing. 30806759 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Prevalence of TPMT, ITPA and NUDT 15 genetic polymorphisms and their relation to 6MP toxicity in north Indian children with acute lymphoblastic leukemia. 30474703 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms including those that affect the folate and/or thiopurine metabolic pathways, i.e. cyclin D1 (CCND1-G870A), γ-glutamyl hydrolase (GGH-C452T), methylenetetrahydrofolate reductase (MTHFR-C677T and MTHFR-A1298C), thymidylate synthase promoter (TYMS-TSER), thiopurine methyltransferase (TPMT*3A and TPMT*3C) and inosine triphosphate pyrophosphatase (ITPA-C94A), in Caucasian (n = 94, age < 20) and Vietnamese (n = 141, age < 16 years) childhood ALL and (b) to assess the impact of a multilocus genetic risk score (MGRS) on relapse-free survival (RFS) using a Cox proportional-hazards regression model. 25099492 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Frequency of ITPA gene polymorphisms in Iranian patients with acute lymphoblastic leukemia and prediction of its myelosuppressive effects. 26242828 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE In conclusion, the ITPA genotype may serve as a genetic marker for the improvement of risk stratification and therapy individualization for patients with ALL. 25303517 2014
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE This study aimed to investigate whether there was a correlation between genotype or haplotype of inosine triphosph pyrophosphohydrolase(ITPA) and toxicities during maintenance therapy with mercaptopurine (6-MP) in Chinese patients with acute lymphoblastic leukemia (ALL). 25120852 2014
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Prevalence of TPMT and ITPA gene polymorphisms and effect on mercaptopurine dosage in Chilean children with acute lymphoblastic leukemia. 24774509 2014
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Pharmacogenetic analysis of pediatric patients with acute lymphoblastic leukemia: a possible association between survival rate and ITPA polymorphism. 23029095 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Epistatic interactions between thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) variations determine 6-mercaptopurine toxicity in Indian children with acute lymphoblastic leukemia. 22009189 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE Patients with ALL and healthy controls were recruited and genotyped for genetic variants of TPMT and ITPA 94C>A. 21545474 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE The rationale of this study was to explore the contribution of genetic variants of the folate pathway to toxicity of 6-mercaptopurine (6-MP)-mediated hematological toxicity in children with acute lymphoblastic leukemia (ALL) and to explore the interaction of these variants with TPMT and ITPA haplotypes using multifactor dimensionality reduction analysis. 22838948 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 Biomarker disease BEFREE In this review, we summarize the knowledge available about the effect and clinical relevance of TPMT and ITPA on mercaptopurine pharmacogenomics, with a particular focus on the use of this medication in pediatric patients with ALL. 20021291 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.100 GeneticVariation disease BEFREE In conclusion, genetic polymorphism of ITPA is a significant determinant of mercaptopurine metabolism and of severe febrile neutropenia, after combination chemotherapy for ALL in which mercaptopurine doses are individualized on the basis of TPMT genotype. 18685564 2009