rs6953165
This is a regulatory region variant variant in the IRF5 gene.
▶Research that mentions this SNP (1)
▶Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese populationAssociationN=758Ikue Ito et al.(2009)· Arthritis & Rheumatism
A case-control association study of 281 Japanese systemic sclerosis (SSc) patients and 477 healthy controls examined three IRF5 SNPs (rs2004640, rs10954213, rs2280714) previously associated with systemic lupus erythematosus. rs2280714 showed the strongest association with SSc (OR 1.42, P=0.0012 in all SSc; OR 1.70, P=0.00013 in diffuse cutaneous SSc). The rs2004640 association was replicated in the recessive model, particularly in the anti-topoisomerase I antibody-positive subset.
About IRF5
This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]
View all IRF5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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