rs7251

This is a variant in the IRF3 gene that changes a glutamate to an aspartate.

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GWAS Catalog Trait Associations (2)

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

schizophrenia

Trubetskoy V et al. “Mapping genomic loci implicates genes and synaptic biology in schizophrenia.” Nature 604(7906):502-508 (2022)
Allele C
OR 1.06
p 2.0e-14
N 175,799
Large GWAS
multi-ancestry

autoimmune thyroid disease

Saevarsdottir S et al. “FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.” Nature 584(7822):619-623 (2020)
Allele C
OR 1.06
p 4.0e-11
N 754,406
Large GWAS
European
Zeng Y et al. “Genetic Associations Between Stress-Related Disorders and Autoimmune Disease.” The American Journal of Psychiatry 180(4):294-304 (2023)
Allele C
OR 0.93
p 1.0e-10
N 376,871
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Genetic variation in the TLR and NF‐κB pathways and cervical and vulvar cancer risk: A population‐based case–control study
AssociationN=2,493Clara Bodelon et al.(2014)· International Journal of Cancer

Population-based case-control study of 876 cervical cancer cases, 517 vulvar cancer cases, and 1,100 controls examining genetic variation in TLR and NFκB pathways. The TNF region was significantly associated with cervical cancer (gene-based P=2.0×10⁻⁴) and vulvar cancer (gene-based P=1.0×10⁻⁴) risk. The rare A allele of rs2239704 in the LTA gene 5' UTR was significantly associated with increased cervical cancer risk (OR=1.31, 95% CI: 1.15–1.50) and vulvar cancer risk (OR=1.51, 95% CI: 1.30–1.75).

Traits studied:Cervical cancerVulvar cancer
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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