rs1127354, ITPA

N. diseases: 26
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
0.850 GeneticVariation BEFREE Association of ITPA polymorphisms rs6051702/rs1127354 instead of rs7270101/rs1127354 as predictor of ribavirin-associated anemia in chronic hepatitis C treated patients. 23933495 2013
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
0.850 GeneticVariation GWASCAT ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. 20173735 2010
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
0.850 GeneticVariation GWASDB ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. 20173735 2010
Inosine Triphosphatase Deficiency
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
0.700 GeneticVariation UNIPROT
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE Inosine triphosphate pyrophosphatase (ITPA) gene single nucleotide polymorphisms (SNPs), rs1127354 and rs7270101, may cause a functional impairment in ITPase enzyme, resulting anemia protection in patients with chronic hepatitis C virus (HCV) infection undergoing ribavirin (RBV)-dependent regimens. 29660762 2018
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE The ITPA gene polymorphism rs1127354 heterozygous genotype (CA) may influence Hb levels and protect against hemolytic anemia during RBV-containing regimens for HCV. 28480960 2017
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE Multivariate analysis showed that IPTA rs1127354 non-genotype CC, HCV genotype, a baseline HCV RNA level <4 × 10 IU/mL, IL-28B rs12979860 genotype CC, and low liver fibrosis were independent predictors for SVR during the combination therapy.IPTA rs1127354 variants and related ITPase were not only related with ribavirin-induced hemolytic anemia but also directly affected the SVR to PEG-IFN plus ribavirin combination therapy in Chinese HCV-infected patients. 28723780 2017
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE The prevalence of two functional polymorphisms (rs1127354 and rs7270101) of the inosine triphosphatase (ITPA) gene associated with ribavirin-induced hemolytic anemia (RIHA) during antiviral therapy for hepatitis C virus (HCV) infection varies by ethnicity. 28233743 2017
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE The ITPA SNP rs1127354 is a useful predictor of ribavirin-induced anemia in Taiwanese patients and may be related to more severe decreases in platelet counts during the early stage of HCV combination therapy.(Gut Liver, 2015;9214-223). 25287171 2015
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE The aim of this study was to evaluate the ITPA SNP (rs7270101/rs1127354) frequency in healthy and hepatitis C virus (HCV)-infected patients from Brazil and the association with the development of severe anaemia during antiviral therapy. 26154744 2015
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE 69 consecutive HCV-1 patients (mean age 57 years) with F3-F4 who received PR and TVR were genotyped for ITPA polymorphisms rs1127354 and rs7270101. 24760000 2014
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE The genotypes of the ITPA rs1127354 single nucleotide polymorphism were determined in 179 patients with HCV infection. 22052220 2012
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE The role of rs1127354/rs7270101 alleles at the inosine triphosphatase (ITPA) gene on ribavirin-induced anemia was assessed in 74 patients with hepatitis C virus and human immunodeficiency virus coinfection. 22028438 2011
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE Triple therapy for 12 weeks, followed by PEG-IFN and RBV for 12 weeks, was given to 49 patients with RBV-sensitive (CC at rs1127354) and 12 with RBV-resistant (CA/AA) ITPA genotypes who had been infected with hepatitis C virus (HCV) of genotype 1. 21246582 2011
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.040 GeneticVariation BEFREE Multivariate analysis showed that IPTA rs1127354 non-genotype CC, HCV genotype, a baseline HCV RNA level <4 × 10 IU/mL, IL-28B rs12979860 genotype CC, and low liver fibrosis were independent predictors for SVR during the combination therapy.IPTA rs1127354 variants and related ITPase were not only related with ribavirin-induced hemolytic anemia but also directly affected the SVR to PEG-IFN plus ribavirin combination therapy in Chinese HCV-infected patients. 28723780 2017
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.040 GeneticVariation BEFREE Functional variants rs7270101 and rs1127354 of inosine triphosphatase (ITPA) were recently found to protect against ribavirin (RBV)-induced hemolytic anemia. 23933495 2013
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.040 GeneticVariation BEFREE In addition, two functionally deficient variants (rs1127354 and rs7270101) of inosine triphosphatase (ITPA) were shown to protect against ribavirin (RBV) - induced hemolytic anemia during early stages of treatment. 22613675 2012
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.040 GeneticVariation BEFREE These tag SNPs are in high linkage disequilibrium with 2 functional variants in the ITPA gene, rs1127354 and rs7270101, that cause ITPase deficiency and protect against ribavirin (RBV)-induced hemolytic anemia (HA). rs1127354 and rs7270101 showed strong independent associations with Pl reduction (p=10(-12), p=10(-7)) and entirely explained the genome-wide significant associations. 21703177 2012
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation 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
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE Patients with ALL and healthy controls were recruited and genotyped for genetic variants of TPMT and ITPA 94C>A. 21545474 2012
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.030 GeneticVariation BEFREE The ITPA 94C>A polymorphism was found to possibly influence the clinical response to low-dose azathioprine in Japanese patients with SLE. 23172266 2012
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.030 GeneticVariation BEFREE Inosine triphosphate pyrophosphatase 94C>A polymorphism: clinical implications for patients with systemic lupus erythematosus treated with azathioprine. 20367526 2010
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE Therefore, we recently studied the effects of a common polymorphism in another gene encoding an enzyme involved in mercaptopurine metabolism (SNP rs1127354 in inosine-triphospate-pyrophosphatase, ITPA), showing that genetic polymorphism of ITPA is a significant determinant of mercaptopurine metabolism and of febrile neutropenia following combination chemotherapy of acute lymphoblastic leukemia (ALL) in which mercaptopurine doses are individualized based on TPMT genotype. 20021291 2010
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.030 GeneticVariation BEFREE Pro32Thr polymorphism of inosine triphosphate pyrophosphatase gene predicts efficacy of low-dose azathioprine for patients with systemic lupus erythematosus. 19129747 2009
Anemia, severe
CUI: C0238644
Disease: Anemia, severe
0.020 GeneticVariation BEFREE The increased tolerability to RTP concentrations in erythrocytes in the ITPA variant rs1127354 plays a role in preventing RBV-induced severe anemia in this ITPA variant. 30817703 2019