rs8105790

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.

liver neoplasm

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.38
p 3.0e-12
N 161,323
Large GWAS
East Asian
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Research that mentions this SNP (2)

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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
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Association of IL28B variants with response to pegylated‐interferon alpha plus ribavirin combination therapy reveals intersubgenotypic differences between genotypes 2a and 2b
Meta-analysisN=23,717Naoya Sakamoto et al.(2011)· Journal of Medical Virology

Meta-analysis of 67 studies involving 20,163 patients for sustained virologic response (SVR) and 10 studies with 3,554 patients for spontaneous clearance (SC). IL28B polymorphisms showed strong associations with HCV clearance: rs12979860 (CC favorable) demonstrated similar associations across HCV genotypes and ethnicities (OR ~3.2-3.6), while rs8099917 (TT favorable) showed stronger effects in East Asians (OR ~6.3 vs 3.4 in Caucasians) and rs12980275 (AA favorable) had OR of 3.95 overall. All three SNPs showed genotype-dependent effects with HCV-1/4 having 3-fold higher ORs than HCV-2/3.

Traits studied:HCV treatment response to pegylated interferon-alpha and ribavirinHepatitis C virus (HCV) sustained virologic responseHepatitis C virus spontaneous clearance
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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