rs10902178
This variant is located in the IRF7 gene.
▶ClinVar annotation
Immunodeficiency 39; not provided; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Replication of the association between the C8orf13–BLK region and systemic lupus erythematosus in a Japanese populationReviewIkue Ito et al.(2009)· Arthritis & 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.
About IRF7
This gene encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. It has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. The encoded protein plays an important role in the innate immune response against DNA and RNA viruses. [provided by RefSeq, Jul 2021]
View all IRF7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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