rs2304206

This variant is located in the IRF3 gene.

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GWAS Catalog Trait Associations (1)

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

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)
Allele G
OR 1.19
p 2.0e-9
N 40,258
Large GWAS
European
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Research that mentions this SNP (2)

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Replication of the association between the C8orf13–BLK region and systemic lupus erythematosus in a Japanese population
ReviewIkue Ito et al.(2009)· Arthritis &amp; Rheumatism

This comprehensive review examines genetic associations in type I interferon-related signaling pathways across multiple autoimmune diseases. The authors review evidence linking dysregulated interferon alpha (IFNα) signaling to systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and other autoimmune conditions, identifying multiple susceptibility genes including IFIH1, IRF5, STAT4, TYK2, BLK, BANK1, FCGR2A, and TREX1 with well-replicated associations and functional relevance to IFN pathway dysfunction.

Traits studied:Autoimmune Thyroid DiseaseCrohn's DiseaseDermatomyositisGiant Cell ArteritisGraves' DiseaseInflammatory Bowel DiseaseJuvenile Idiopathic ArthritisLupus NephritisMicroscopic PolyangiitisMultiple SclerosisPrimary Anti-Phospholipid SyndromePrimary Sjögren's SyndromePsoriasisRheumatoid ArthritisSclerodermaSystemic Lupus ErythematosusType 1 DiabetesUlcerative ColitisWegener's Granulomatosis
PubMedDOIMetascience Observatory
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Variants in interferon‐alpha pathway genes and response to pegylated interferon‐Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long‐term treatment against cirrhosis trial†‡
AssociationN=712Tania Mara Welzel et al.(2009)· Hepatology

In the HALT-C trial of 581 European American patients with advanced chronic hepatitis C, genetic variants in the interferon-alpha pathway were associated with sustained virological response (SVR) to pegylated interferon-alpha-2a plus ribavirin therapy. Key associations included IFNAR1 IVS1-22G (aOR=0.57, p=0.02), IFNAR2 Ex2-33C (aOR=2.09, p=0.02), JAK1 IVS22+112T (aOR=1.66, p=0.04), and ADAR Ex9+14A (aOR=1.67, p=0.03). The TYK2 -2256A promoter variant showed a borderline association in European Americans (OR=1.51, p=0.05) but a strong association in African American patients (p=0.006).

Traits studied:Chronic hepatitis C infectionHepatitis C virus (HCV) treatment responseSustained virological response (SVR)
PubMedDOIMetascience Observatory

About IRF3

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020]

View all IRF3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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