rs1127354
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3.2 | Causative for ITPase deficiency; also, reduces risk of anemia due to ribivarin anti-hepatitis C virus therapy |
| (A;C) | 2 | lower ITPA production; be aware if treated with mercaptopurine |
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 3213196 |
| Gene | ITPA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1127354 |
| dbSNP (classic) | rs1127354 |
| ClinGen | rs1127354 |
| ebi | rs1127354 |
| HLI | rs1127354 |
| Exac | rs1127354 |
| Gnomad | rs1127354 |
| Varsome | rs1127354 |
| LitVar | rs1127354 |
| Map | rs1127354 |
| PheGenI | rs1127354 |
| Biobank | rs1127354 |
| 1000 genomes | rs1127354 |
| hgdp | rs1127354 |
| ensembl | rs1127354 |
| geneview | rs1127354 |
| scholar | rs1127354 |
| rs1127354 | |
| pharmgkb | rs1127354 |
| gwascentral | rs1127354 |
| openSNP | rs1127354 |
| 23andMe | rs1127354 |
| SNPshot | rs1127354 |
| SNPdbe | rs1127354 |
| MSV3d | rs1127354 |
| GWAS Ctlg | rs1127354 |
| GMAF | 0.08081 |
| Max Magnitude | 3.2 |
rs1127354 (Pro32Thr/P32T, 94C>A) is a SNP within the ITPA (Inosine triphosphate pyrophosphatase) gene.
[PMID 18685564
] (note: rs1127354 supersedes rs41320251) abolishes ITPA activity in homozygous individuals and reduces the activity to 25% in heterozygous subjects, mercaptopurine metabolism (sig. higher methyl mercaptopurine nucleotides levels + higher probability of severe febrile neutropenia in A carriers treated with mercaptopurine)
[PMID 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
[PMID 20637204] ITPA Polymorphism Affects Ribavirin-induced Anemia and Outcome of Therapy - a Genome-wide Study of Japanese HCV Patients
[PMID 21246582] Influence of ITPA polymorphisms on decreases of hemoglobin during treatment with pegylated interferon, ribavirin, and telaprevir
[PMID 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
[PMID 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
[PMID 21659334] Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C
| ? | (A;A) (A;C) (C;C) | |
|---|---|---|
|
| ||
[PMID 22052220] Polymorphism of the inosine triphosphate pyrophosphatase gene predicts ribavirin-induced anemia in chronic hepatitis C patients
[PMID 22118055] Single and combined IL28B, ITPA and SLC28A3 host genetic markers modulating response to anti-hepatitis C therapy
[PMID 22460221] Anemia and thrombocytosis induced by ribavirin monotherapy in patients with chronic hepatitis C
[PMID 22571903] Gene expression profiles associated with anaemia and ITPA genotypes in patients with chronic hepatitis C (CH-C)
[PMID 21703177] Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients
| ClinVar | |
|---|---|
| Risk | Rs1127354(A;A) rs1127354(G;G) |
| Alt | Rs1127354(A;A) rs1127354(G;G) |
| Reference | Rs1127354(C;C) |
| Significance | Other |
| Disease | Inosine triphosphatase deficiency peginterferon alfa-2b and ribavirin response - Toxicity/ADR interferon alfa-2b |
| Variation | info |
| Gene | ITPA |
| CLNDBN | Inosine triphosphatase deficiency peginterferon alfa-2b and ribavirin response - Toxicity/ADR interferon alfa-2b, recombinant and ribavirin response - Dosage, Toxicity/ADR |
| Reversed | 0 |
| HGVS | NC_000020.10:g.3193842C>A |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein) |
| CLNACC | RCV000015867.28, RCV000211370.1, RCV000223768.1, |
[PMID 17186469] Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
[PMID 18662289] Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine.
[PMID 19193698] Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.
[PMID 20547162] Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction.
[PMID 20977565] ITPA gene variant protects against anemia induced by pegylated interferon-alpha and ribavirin therapy for Japanese patients with chronic hepatitis C.
[PMID 21503919] Common genetic polymorphism of ITPA gene affects ribavirin-induced anemia and effect of peg-interferon plus ribavirin therapy.
[PMID 22028438] Impact of inosine triphosphatase gene variants on the risk of anemia in HIV/hepatitis C virus-coinfected patients treated for chronic hepatitis C.
[PMID 22158703] Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes.
[PMID 22181672] Efficacy of splenectomy in preventing anemia in patients with recurrent hepatitis C following liver transplantation is not dependent on inosine triphosphate pyrophosphatase genotype.
[PMID 22406654] Inosine triphosphatase polymorphisms and ribavirin pharmacokinetics as determinants of ribavirin-associate anemia in patients receiving standard anti-HCV treatment.
[PMID 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.
[PMID 22613675] Comparison of three different methods for the evaluation of IL28 and ITPA polymorphisms in patients infected with HCV.
[PMID 23139603] Several factors including ITPA polymorphism influence ribavirin-induced anemia in chronic hepatitis C
Hepatitis C Treatment Side Effects
[PMID 23195617] Impact of genetic SLC28 transporter and ITPA variants on ribavirin serum level, hemoglobin drop and therapeutic response in patients with HCV infection
[PMID 23538996] Pre-treatment role of inosine triphosphate pyrophosphatase polymorphism for predicting anemia in Egyptian hepatitis C virus patients
| GWAS snp | |
|---|---|
| PMID | [PMID 20173735] |
| Trait | Chronic Hepatitis C infection |
| Title | ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. |
| Risk Allele | A |
| P-val | 2E-58 |
| Odds Ratio | NR NR |
[PMID 23933495] Association of ITPA polymorphisms rs6051702/rs1127354 instead of rs7270101/rs1127354 as predictor of ribavirin-associated anemia in chronic hepatitis C treated patients
[PMID 24621321] Severe thrombocytopenia in a patient with inosine triphosphatase (ITPA)-CC genotype caused by pegylated interferon (IFN)-alpha-2a with ribavirin therapy: a case report
[PMID 22584257] Genetic variants at the ITPA locus protect against ribavirin-induced hemolytic anemia and dose reduction in an HCV G2/G3 cohort.
[PMID 22585729] ITPA gene polymorphisms significantly affect hemoglobin decline and treatment outcomes in patients coinfected with HIV and HCV.
[PMID 23133602] Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants.
[PMID 23201294] Allelic inhibition of displacement activity: a simplified one tube allele-specific PCR for evaluation of ITPA polymorphisms.
[PMID 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.
[PMID 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.
[PMID 23730840] Role of IL28B and inosine triphosphatase polymorphisms in the treatment of chronic hepatitis C virus genotype 6 infection.
[PMID 24750345] ITPA genetic variants influence efficacy of PEG-IFN/RBV therapy in older patients infected with HCV genotype 1 and favourable IL28B type
[PMID 23707372] Clinical milestones for the prediction of severe anemia by chronic hepatitis C patients receiving telaprevir-based triple therapy
[PMID 24304455] Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy
[PMID 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
[PMID 25834588] An Index to Predict Ribavirin-Induced Anemia in Asian Patients With Chronic Genotype 1 Hepatitis C
[PMID 26071337] Role of ITPA and SLC28A2 genes in the prediction of anaemia associated with protease inhibitor plus ribavirin and peginterferon in hepatitis C treatment
[PMID 24841973] Distribution of genetic polymorphisms associated with hepatitis C virus (HCV) antiviral response in a multiethnic and admixed population
