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    ITPA inosine triphosphatase [ Homo sapiens (human) ]

    Gene ID: 3704, updated on 25-Jul-2016

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The association of IL28B and APOH single nucleotide polymorphisms (SNPs) with sustained virological response and of ITPA SNPs with anemia related phenotypes.

    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.
    About F, Oudot-Mellakh T, Niay J, Rabiéga P, Pedergnana V, Duffy D, Sultanik P, Cagnot C, Carrat F, Marcellin P, Zoulim F, Larrey D, Hézode C, Fontaine H, Bronowicki JP, Pol S, Albert ML, Theodorou I, Cobat A, Abel L, ANRS CO20-CUPIC study group., Free PMC Article

    The identification of ITPA protective and SLC29A1 risk genotypes still appears to be a current methodology in Ribavirin dosing during hepatitis C virus therapy with direct acting antiviral agents

    ITPA and SLC29A1 Genotyping for the Prediction of Ribavirin Dose Reduction in Anti-HCV Triple Therapy with Protease Inhibitors.
    Lombardi A, Landonio S, Magni C, Cheli S, Mazzali C, Mondelli MU, Rizzardini G, Clementi E, Falvella FS.

    ITPA SNPs in Brazilian patients receiving antiviral therapy for chronic hepatitis had a great propensity for developing ribavirin-induced anaemia.

    Inosine triphosphatase allele frequency and association with ribavirin-induced anaemia in Brazilian patients receiving antiviral therapy for chronic hepatitis C.
    Delvaux N, Costa VD, Costa MM, Villar LM, Coelho HS, Esberard EB, Flores PP, Brandão-Mello CE, Villela-Nogueira CA, Almeida AJ, Lampe E., Free PMC Article

    genotyping of ATIC rs2372536 and ITPA rs1127354 variants or measuring ITPA activity could be useful to predict methotrexate response in children with juvenile idiopathic arthritis.

    5-Aminoimidazole-4-carboxamide ribonucleotide-transformylase and inosine-triphosphate-pyrophosphatase genes variants predict remission rate during methotrexate therapy in patients with juvenile idiopathic arthritis.
    Pastore S, Stocco G, Moressa V, Zandonà L, Favretto D, Malusà N, Decorti G, Lepore L, Ventura A.

    Recessive ITPA mutations were associated with early infantile encephalopathy.

    Recessive ITPA mutations cause an early infantile encephalopathy.
    Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS.

    results showed that patients with aberrant ITPase genotype (mutant homozygous or heterozygous), more likely to be myelosuppressed and show liver toxicity after treatment with 6-Mercaptopurine

    Frequency of ITPA gene polymorphisms in Iranian patients with acute lymphoblastic leukemia and prediction of its myelosuppressive effects.
    Azimi F, Mortazavi Y, Alavi S, Khalili M, Ramazani A.

    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.

    Association between IPTA gene polymorphisms and hematological abnormalities in hepatitis C virus-infected patients receiving combination therapy.
    Hwang JJ, Lo CC, Lin CH, Cheng HS, Hung IW, Tsai WJ, Hung CH., Free PMC Article

    Results indicate a strong, significant, and independent role of VDR in the early development of ribavirin-induced anemia and confirm the ITPA function in the prediction of anemia at week 4.

    VDR gene polymorphisms impact on anemia at 2 weeks of anti-HCV therapy: a possible mechanism for early RBV-induced anemia.
    Cusato J, Allegra S, Boglione L, De Nicolò A, Cariti G, Di Perri G, D'Avolio A.

    ITPA polymorphisms are associated with an improved likelihood of achieving sustained virological response resulting from the reduced risk of relapse following IFN and ribavirin combination therapy for HCV infection

    Do variations in the ITPA gene determine the risk of hepatitis C virus relapse?
    Waldenström J, Nyström K, Lagging M.

    ITPA genotype may serve as a genetic marker for the improvement of risk stratification and therapy individualization for patients with acute lymphoblastic leukemia.

    Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy.
    Smid A, Karas-Kuzelicki N, Milek M, Jazbec J, Mlinaric-Rascan I., Free PMC Article

    The significant association was found between the rs1127354 ITPA gene polymorphism and protection against ribavirin-induced hemolytic anemia in the Ukrainian patients with chronic hepatitis C infection.

    ITPA gene variant may protect against anemia induced during pegylated interferon alfa and ribavirin combination treatment in Ukrainian patients with chronic hepatitis C.
    Kucherenko A, Pampukha V, Bobrova I, Moroz L, Livshits L.

    Results show that in patients with F3-F4 chronic hepatitis C receiving telaprevir based therapy, ITPA genotype does not impact on the management of early anemia.

    Limited utility of ITPA deficiency to predict early anemia in HCV patients with advanced fibrosis receiving Telaprevir.
    Aghemo A, Grassi E, Rumi MG, D'Ambrosio R, Galmozzi E, Degasperi E, Castaldi D, Soffredini R, Colombo M., Free PMC Article

    Partial splenic embolism, in conjunction with triple combination therapy, is a useful and safe method to treat genotype 1b chronic hepatitis C patients with hypersplenism-induced thrombocytopenia

    Safety and efficacy of partial splenic embolization in telaprevir-based triple therapy for chronic hepatitis C.
    Kondo C, Atsukawa M, Tsubota A, Shimada N, Abe H, Itokawa N, Nakagawa A, Fukuda T, Matsushita Y, Nakatsuka K, Kawamoto C, Iwakiri K, Aizawa Y, Sakamoto C.

    the risk of mercaptopurine intolerance was decreased in acute lymphoblastic leukemia patients with 138 allele and 561 allele polymorphism in the ITPA gene

    Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in Chinese ALL children and possible association with mercaptopurine related toxicity.
    Ma X, Zheng J, Jin M, Li W, Gao C, Zhang D, Chen Y, Li X, Xie J., Free PMC Article

    important role in hepatitis C virus infection[review]

    Individualization of chronic hepatitis C treatment according to the host characteristics.
    Gatselis NK, Zachou K, Saitis A, Samara M, Dalekos GN., Free PMC Article

    For ITPA, the frequency of P32T allele was 3%. We did not observe any homozygous variant for TPMT and ITPA alleles.

    Prevalence of TPMT and ITPA gene polymorphisms and effect on mercaptopurine dosage in Chilean children with acute lymphoblastic leukemia.
    Farfan MJ, Salas C, Canales C, Silva F, Villarroel M, Kopp K, Torres JP, Santolaya ME, Morales J., Free PMC Article

    Irrespective of the protective effect of ITPA mutations, premenopausal females less likely develop ribavirin induced anemia.

    Effect of gender and ITPA polymorphisms on ribavirin-induced anemia in chronic hepatitis C patients.
    Scherzer TM, Stättermayer AF, Stauber R, Maieron A, Strasser M, Laferl H, Schwarzer R, Datz C, Rutter K, Beinhardt S, Steindl-Munda P, Hofer H, Ferenci P.

    All ITPA polymorphisms considered were shown to be significantly associated with anemia onset in chronic hepatitis C treated patients.

    Association of ITPA polymorphisms rs6051702/rs1127354 instead of rs7270101/rs1127354 as predictor of ribavirin-associated anemia in chronic hepatitis C treated patients.
    D'Avolio A, De Nicolò A, Cusato J, Ciancio A, Boglione L, Strona S, Cariti G, Troshina G, Caviglia GP, Smedile A, Rizzetto M, Di Perri G.

    ITPA protects against ribavirin-induced anemia, but is not associated with sustained virological response rate.

    ITPA genotype protects against anemia during peginterferon and ribavirin therapy but does not influence virological response.
    Holmes JA, Roberts SK, Ali RJ, Dore GJ, Sievert W, McCaughan GW, Crawford DH, Cheng WS, Weltman MD, Bonanzinga S, Visvanathan K, Sundararajan V, Desmond PV, Bowden DS, Matthews GV, Thompson AJ, CHARIOT Study Group.

    ITPA variants are associated with reduced risk of hepatitis C relapse.

    Variants of the inosine triphosphate pyrophosphatase gene are associated with reduced relapse risk following treatment for HCV genotype 2/3.
    Rembeck K, Waldenström J, Hellstrand K, Nilsson S, Nyström K, Martner A, Lindh M, Norkrans G, Westin J, Pedersen C, Färkkilä M, Langeland N, Buhl MR, Mørch K, Christensen PB, Lagging M.

    Study supports recent studies which point towards an important role for ITPase in cellular surveillance of rogue hematologic malignancy.

    Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects.
    Zamzami MA, Duley JA, Price GR, Venter DJ, Yarham JW, Taylor RW, Catley LP, Florin TH, Marinaki AM, Bowling F., Free PMC Article

    Non-CC at rs1127354 without involvement of rs7270101 is strongly associated with protection from ribavirin-induced anemia, however, inosine triphosphatase genotype is not associated with sustained virologic response.

    The impact of inosine triphosphatase variants on hemoglobin level and sustained virologic response of chronic hepatitis C in Korean.
    Kim JS, Ahn SM, Jung YK, Kwon OS, Kim YS, Choi DJ, Kim JH., Free PMC Article

    role of conserved residues in substrate specificity

    Analysis of human ITPase nucleobase specificity by site-directed mutagenesis.
    Gall AD, Gall A, Moore AC, Aune MK, Heid S, Mori A, Burgis NE.

    association between ribavirin (RBV) serum levels and SLC28A2 rs11854484 genotype, as well as the replicated association of ITPA and SLC28A3 genetic polymorphisms with RBV-induced anemia and treatment response

    Impact of genetic SLC28 transporter and ITPA variants on ribavirin serum level, hemoglobin drop and therapeutic response in patients with HCV infection.
    Rau M, Stickel F, Russmann S, Manser CN, Becker PP, Weisskopf M, Schmitt J, Dill MT, Dufour JF, Moradpour D, Semela D, Müllhaupt B, Geier A, Swiss Hepatitis C Cohort Study Group (SCCS).

    We propose that the dimer of P32T variant subunit with wild-type subunit is degraded in cells similarly to the P32T homodimer explaining the level of loss of ITPA activity in heterozygotes.

    The human ITPA polymorphic variant P32T is destabilized by the unpacking of the hydrophobic core.
    Simone PD, Struble LR, Kellezi A, Brown CA, Grabow CE, Khutsishvili I, Marky LA, Pavlov YI, Borgstahl GE., Free PMC Article

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