SNP information rs1127354

Research and publications:

  11278832   Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene.

  12384777   Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

  12436200   DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.

  17186469   Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

  18662289   Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine.

  18685564   Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia.

  19193698   Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate

  19631656   Functional study of the P32T ITPA variant associated with drug sensitivity in humans.

  20021291   Genetic polymorphism of inosine-triphosphate-pyrophosphatase influences mercaptopurine metabolism and toxicity during treatment of acute lymphoblastic leukemia individualized for thiopurine-S-methyl-transferase status.

  20173735   ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.

  20547162   Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction

  20637204   ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients.

  20977565   ITPA gene variant protects against anemia induced by pegylated interferon-α and ribavirin therapy for Japanese patients with chronic hepatitis C.

  21246582   Influence of ITPA polymorphisms on decreases of hemoglobin during treatment with pegylated interferon, ribavirin, and telaprevir

  21274861   Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR.

  21345258   Prospects for personalizing antiviral therapy for hepatitis C virus with pharmacogenetics

  21395650   Determinants of mercaptopurine toxicity in paediatric acute lymphoblastic leukemia maintenance therapy.

  21503919   Common genetic polymorphism of ITPA gene affects ribavirin-induced anemia and effect of peg-interferon plus ribavirin therapy.

  21628662   IL28B but not ITPA polymorphism is predictive of response to pegylated interferon, ribavirin, and telaprevir triple therapy in patients with genotype 1 hepatitis C

  21659334   Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.

  21703177   Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients.

  22028438   Impact of inosine triphosphatase gene variants on the risk of anemia in HIV/hepatitis C virus-coinfected patients treated for chronic hepatitis C.

  22052220   Polymorphism of the inosine triphosphate pyrophosphatase gene predicts ribavirin-induced anemia in chronic hepatitis C patients.

  22118055   Single and combined IL28B, ITPA and SLC28A3 host genetic markers modulating response to anti-hepatitis C therapy

  22158703   Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes.

  22181672   Efficacy of splenectomy in preventing anemia in patients with recurrent hepatitis C following liver transplantation is not dependent on inosine triphosphate pyrophosphatase genotype.

  22406654   Inosine triphosphatase polymorphisms and ribavirin pharmacokinetics as determinants of ribavirin-associate anemia in patients receiving standard anti-HCV treatment.

  22430973   Association of ITPA gene polymorphisms and the risk of ribavirin-induced anemia in HIV/hepatitis C virus (HCV)-coinfected patients receiving HCV combination therapy.

  22460221   Anemia and thrombocytosis induced by ribavirin monotherapy in patients with chronic hepatitis C.

  22571903   Gene expression profiles associated with anaemia and ITPA genotypes in patients with chronic hepatitis C (CH-C).

  22584257   Genetic variants at the ITPA locus protect against ribavirin-induced hemolytic anemia and dose reduction in an HCV G2/G3 cohort.

  22585729   ITPA gene polymorphisms significantly affect hemoglobin decline and treatment outcomes in patients coinfected with HIV and HCV.

  22613675   Comparison of three different methods for the evaluation of IL28 and ITPA polymorphisms in patients infected with HCV.

  22938532   Sequencing and analysis of a South Asian-Indian personal genome.

  22977575   Accuracy of genotyping using the TaqMan PCR assay for single nucleotide polymorphisms responsible for thiopurine sensitivity in Japanese patients with inflammatory bowel disease.

  22992668   Pharmacogenomics knowledge for personalized medicine.

  23029095   Pharmacogenetic analysis of pediatric patients with acute lymphoblastic leukemia: a possible association between survival rate and ITPA polymorphism.

  23133602   Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants.

  23189085   Impact of genetic polymorphisms on chemotherapy toxicity in childhood acute lymphoblastic leukemia.

  23201294   Allelic inhibition of displacement activity: a simplified one tube allele-specific PCR for evaluation of ITPA polymorphisms.

  23297176   Model incorporating the ITPA genotype identifies patients at high risk of anemia and treatment failure with pegylated-interferon plus ribavirin therapy for chronic hepatitis C.

  23300409   Chapter 7: Pharmacogenomics.

  23335936   Multilocus genotypes of relevance for drug metabolizing enzymes and therapy with thiopurines in patients with acute lymphoblastic leukemia.

  23490380   An automated rapid detection system using the quenching probe method for detecting interleukin 28B and inosine triphosphatase single nucleotide polymorphisms in chronic hepatitis C.

  23707372   Clinical milestones for the prediction of severe anemia by chronic hepatitis C patients receiving telaprevir-based triple therapy.

  23730840   Role of IL28B and inosine triphosphatase polymorphisms in the treatment of chronic hepatitis C virus genotype 6 infection.

  23850877   Effect of gender and ITPA polymorphisms on ribavirin-induced anemia in chronic hepatitis C patients.

  23919217   Association of ITPA polymorphism with outcomes of peginterferon-α plus ribavirin combination therapy.

  23957840   Administration of low-dose epoetin-alpha facilitates adherence to ribavirin in triple therapy with pegylated interferon-alpha-2b and telaprevir.

  23980585   Relationship between inosine triphosphate genotype and outcome of extended therapy in hepatitis C virus patients with a late viral response to pegylated-interferon and ribavirin.

  24039372   Extended therapy duration for therapy-refractory hepatitis C patients with genotype 2.

  24099469   Telaprevir-based triple therapy for chronic hepatitis C patients with advanced fibrosis: a prospective clinical study.

  24449403   ITPA genotype protects against anemia during peginterferon and ribavirin therapy but does not influence virological response.

  24519039   Variants of the inosine triphosphate pyrophosphatase gene are associated with reduced relapse risk following treatment for HCV genotype 2/3.

  24659876   Individualization of chronic hepatitis C treatment according to the host characteristics.

  24750345   ITPA genetic variants influence efficacy of PEG-IFN/RBV therapy in older patients infected with HCV genotype 1 and favourable IL28B type.

  24774509   Prevalence of TPMT and ITPA gene polymorphisms and effect on mercaptopurine dosage in Chilean children with acute lymphoblastic leukemia.

  24819603   Involvement of MAP3K8 and miR-17-5p in poor virologic response to interferon-based combination therapy for chronic hepatitis C.

  24841973   Distribution of genetic polymorphisms associated with hepatitis C virus (HCV) antiviral response in a multiethnic and admixed population.

  24930407   Ribavirin dose reduction during telaprevir/ribavirin/peg-interferon therapy overcomes the effect of the ITPA gene polymorphism.

  24944790   Screening for 392 polymorphisms in 141 pharmacogenes.

  25240429   5-Aminoimidazole-4-carboxamide ribonucleotide-transformylase and inosine-triphosphate-pyrophosphatase genes variants predict remission rate during methotrexate therapy in patients with juvenile idiopathic arthritis.

  25287662   FLT3 expression and IL10 promoter polymorphism in acute myeloid leukemia with RUNX1-RUNX1T1.

  25303517   Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy.

  25745368   Prediction of methotrexate intolerance in juvenile idiopathic arthritis: a prospective, observational cohort study.

  25777545   Comparative safety study on severe anemia by simeprevir versus telaprevir-based triple therapy for chronic hepatitis C.

  25852556   Genetic determinants for methotrexate response in juvenile idiopathic arthritis.

  26071337   Role of ITPA and SLC28A2 genes in the prediction of anaemia associated with protease inhibitor plus ribavirin and peginterferon in hepatitis C treatment.

  26154744   Inosine triphosphatase allele frequency and association with ribavirin-induced anaemia in Brazilian patients receiving antiviral therapy for chronic hepatitis C.

  26418670   Short interferon and ribavirin treatment for HCV genotype 2 or 3 infection: NORDynamIC trial and real-life experience.

  26438033   Relationship between ITPA polymorphisms and hemolytic anemia in HCV-infected patients after ribavirin-based therapy: a meta-analysis.

  26441325   ITPA Polymorphisms Are Associated with Hematological Side Effects during Antiviral Therapy for Chronic HCV Infection.

  26644204   Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol.

  26650626   ITPA Genotypes Predict Anemia but Do Not Affect Virological Response with Interferon-Free Faldaprevir, Deleobuvir, and Ribavirin for HCV Infection.

  26670100   Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study.

  26880169   Role of ITPA gene polymorphism in ribavirin-induced anemia and thrombocytopenia in Egyptian patients with chronic hepatitis C.

  26933517   Modeling Ribavirin-Induced Anemia in Patients with Chronic Hepatitis C Virus.

  26991414   Impact of ribavirin dosage in chronic hepatitis C patients treated with simeprevir, pegylated interferon plus ribavirin combination therapy.

  27081565   Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis.

  27148387   The ITPA and C20orf194 Polymorphisms and Hematological Changes During Treatment With Pegylated-Interferon Plus Ribavirin in Patients With Chronic Hepatitis C.

  27307154   A Simple Method for TPMT and ITPA Genotyping Using Multiplex HRMA for Patients Treated with Thiopurine Drugs.

  27452984   PACSIN2 polymorphism is associated with thiopurine-induced hematological toxicity in children with acute lymphoblastic leukaemia undergoing maintenance therapy.

  27770805   A disease spectrum for ITPA variation: advances in biochemical and clinical research.

  27789224   Effectiveness and safety of sofosbuvir plus ribavirin for HCV genotype 2 patients 65 and over with or without cirrhosis.

  27792682   Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy.

  27822709   ITPA polymorphism effects on decrease of hemoglobin during sofosbuvir and ribavirin combination treatment for chronic hepatitis C.

  27917361   IL28B genotype is associated with cirrhosis or transition to cirrhosis in treatment-naive patients with chronic HCV genotype 1 infection: the international observational Gen-C study.

  28109022   Correlation between polymorphism in the inosine triphosphatase and the reductions in hemoglobin concentration and ribavirin dose during sofosbuvir and ribavirin therapy.

  28128422   Role of inosine triphosphate pyrophosphatase gene variant on fever incidence during zidovudine antiretroviral therapy.

  28165327   ITPase activity modulates the severity of anaemia in HCV-related cirrhosis treated with ribavirin-containing interferon-free regimens.

  28198349   Impact of ITPA gene polymorphisms on the risk of ribavirin-induced haemolytic anaemia using interferon-free antivirals for chronic hepatitis C.

  28233743   High Prevalence of ITPA Alleles Associated with Ribavirin-Induced Hemolytic Anemia Among Mexican Population.

  28480960   ITPA gene polymorphism (94C>A) effects on ribavirin-induced anemia during therapy in Egyptian patients with chronic hepatitis C.

  28543275   The role of ITPA and ribavirin transporter genes polymorphisms in prediction of ribavirin-induced anaemia in chronic hepatitis C Egyptian patients.

  28723780   The relationship between ITPA rs1127354 polymorphisms and efficacy of antiviral treatment in Northeast Chinese CHC patients.

  28928439   Polymorphisms in MICA, but not in DEPDC5, HCP5 or PNPLA3, are associated with chronic hepatitis C-related hepatocellular carcinoma.

  29308621   The rs1127354 Polymorphism in ITPA Is Associated with Susceptibility to Infertility.

  29329318   Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV.

  29387964   Role of TPMT and ITPA variants in mercaptopurine disposition.

  29520081   Evaluation of a clinical pharmacogenetics model to predict methotrexate response in patients with rheumatoid arthritis.