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rs7270101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(C;C) 3.3 causative. Ribavirin-induced anemia iRibavirin-induced anemia during anti-hepatitis C virus therapy
Make rs7270101(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position3213247
GeneITPA
is asnp
is mentioned by
dbSNPrs7270101
ebirs7270101
HLIrs7270101
Exacrs7270101
Varsomers7270101
Maprs7270101
PheGenIrs7270101
hapmaprs7270101
1000 genomesrs7270101
hgdprs7270101
ensemblrs7270101
gopubmedrs7270101
geneviewrs7270101
scholarrs7270101
googlers7270101
pharmgkbrs7270101
gwascentralrs7270101
openSNPrs7270101
23andMers7270101
23andMe allrs7270101
SNP Nexus

SNPshotrs7270101
SNPdbers7270101
MSV3drs7270101
GWAS Ctlgrs7270101
GMAF0.07392
Max Magnitude3.3
? (A;A) (A;C) (C;C) 28

[PMID 20637204] ITPA Polymorphism Affects Ribavirin-induced Anemia and Outcome of Therapy - a Genome-wide Study of Japanese HCV Patients

OMIM147520
Desc
Variant
Relatedalso
OMIM609532
Desc
Variant
Relatedalso


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


[PMID 22272297OA-icon.png] Erythrocyte Inosine Triphosphatase Activity Is Decreased in HIV-Seropositive Individuals


[PMID 21703177OA-icon.png] Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients


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


[PMID 18662289OA-icon.png] Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine.


[PMID 20547162OA-icon.png] Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction.


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


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


[PMID 22430973OA-icon.png] 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 23195617] Impact of genetic SLC28 transporter and ITPA variants on ribavirin serum level, hemoglobin drop and therapeutic response in patients with HCV infection

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 C
P-val 9E-76
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 22585729OA-icon.png] ITPA gene polymorphisms significantly affect hemoglobin decline and treatment outcomes in patients coinfected with HIV and HCV.


[PMID 23133602OA-icon.png] 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 24304455] Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy


ClinVar
Risk rs7270101(C;C)
Alt rs7270101(C;C)
Reference rs7270101(A;A)
Significance Other
Disease Inosine triphosphatase deficiency ribavirin response - Toxicity/ADR peginterferon alfa-2b response - Toxicity/ADR
Variation info
Gene ITPA
CLNDBN Inosine triphosphatase deficiency ribavirin response - Toxicity/ADR peginterferon alfa-2b response - Toxicity/ADR
Reversed 0
HGVS NC_000020.10:g.3193893A>C
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000015868.27, RCV000211155.1, RCV000211374.1,



[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