rs11246213
This variant is located in the IRF7 gene.
▶ClinVar annotation
Immunodeficiency 39; not specified; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Association of a functional IRF7 variant with systemic lupus erythematosusAssociationN=6,017Fu Q. et al.(2011)· Arthritis & Rheumatism
This study identified rs1131665 (Q412R), a nonsynonymous SNP in IRF7, as associated with systemic lupus erythematosus (SLE) across multiple ethnic groups (Asian, European American, and African American populations; meta-analysis P = 6.18×10⁻⁶, OR = 1.42 [1.22–1.65]). Functional analysis demonstrated that the risk allele (412Q) resulted in a 2-fold increase in ISRE transcriptional activity, suggesting elevated IRF7 activation confers SLE susceptibility through dysregulation of the type I interferon pathway.
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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