rs8113007

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

chronic hepatitis C virus infection

Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele T
OR 1.43
p 7.0e-28
N 212,453
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.27
p 5.0e-22
N 528,711
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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IL28Brs12980275 polymorphism shows association with response to treatment in Pakistani patients with Chronic Hepatitis C
AssociationN=220Naila Shaikh et al.(2015)· Journal of Medical Virology

This association study examined IL28B polymorphisms in 220 Pakistani HCV patients (100 responders, 120 nonresponders) to pegylated interferon-alpha and ribavirin treatment. The rs12980275 AA genotype showed the strongest association with treatment response (62% responders vs 37.5% nonresponders, OR: 4.1, P < 0.0001), followed by rs12979860 CT (OR: 3.0, P < 0.001) and rs8099917 TT (P < 0.032). This was the first report describing rs12980275 association with HCV treatment response in Pakistani patients.

Traits studied:Hepatitis C virus treatment responseLiver fibrosisSustained virological response
PubMedDOIMetascience Observatory
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Combined effects of different interleukin-28B gene variants on the outcome of dual combination therapy in chronic hepatitis C virus type 1 infection
ReviewJanett Fischer et al.(2012)· Hepatology

A comprehensive review of IL28B gene polymorphisms and their impact on drug responses across multiple conditions. The review discusses how three major IL28B SNPs (rs12979860, rs8099917, rs12980275) and seven additional polymorphisms predict treatment response to interferon-based therapies for chronic hepatitis C, hepatitis B, and myeloproliferative neoplasms. IL28B genotypes, particularly the favorable CC genotype at rs12979860 and TT genotype at rs8099917, are associated with higher sustained virologic response (SVR) rates in HCV treatment, with effect sizes showing 3-4.5 fold differences in relapse risk between genotypes.

Traits studied:Chronic hepatitis BChronic hepatitis CDrug response to interferon therapyMyeloproliferative neoplasmsSustained virologic response (SVR)
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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