rs752637
This variant is located in the IRF5 gene.
▶Research that mentions this SNP (1)
▶Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: A new perspective for pulmonary fibrosisAssociationN=987Dieudé P. et al.(2009)· Arthritis & Rheumatism
A case-control study of 263 non-anterior uveitis patients and 724 healthy Spanish controls examined three IRF5 SNPs (rs2004640, rs2070197, rs10954213) for association with uveitis and macular edema. Two functional variants, rs2004640 and rs10954213, showed significant protective associations with absence of macular edema (OR=1.48, P_FDR=5.07E-03 and OR=1.54, P_FDR=3.37E-03, respectively), suggesting IRF5 genetic variation influences macular edema development in uveitis patients.
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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