|(G;G)||normal; 0.9x decreased risk for rheumatoid arthritis|
|(G;T)||1.4x increased risk for SLE|
|(T;T)||1.4x increased risk for SLE|
In ~600 Korean SLE patients, the odds ratio for the rs2004640(T) risk allele was 1.44 (CI: 1.34-1.55, overall p=1.85x10e-23). The rs2004640-T/rs2280714-T haplotype involved in both the alternative splice donor site and the elevated expression of the IRF5 protein also had a highly significant association with SLE (pooled p=2.11x 10e-16).[PMID 17389033]
[PMID 18288123] Reconfirmed for African-Americans
[PMID 17166181] Reconfirmed in ~370 female Caucasian patients
[PMID 18063667] A variant located 64 bp upstream of the first untranslated exon (exon 1A), consisting of a 5 bp insertion/deletion CGGGG (rs77571059), may be the causative SNP in this region that is most responsible for increasing SLE risk.
[PMID 18843785] In a Korean population, rs2004640 was associated with both the anti-CCP Ab-positive (odds ratio 1.47, CI: 1.15-1.88, pcorr = 0.01) and SE-positive group (odds ratio 1.54, CI: 1.14-2.09, pcorr = 0.03) forms of rheumatoid arthritis. Combined analysis pooling 3 independent cohorts yielded an association with an odds ratio of 1.21, CI: 1.07-1.38, pooled p = 0.0031 in a dominant model.
[PMID 19228650] A meta-analysis comprising 5 case-control studies, totaling 6,582 rheumatoid arthritis cases and 5,375 controls, concluded that several IRF5 gene SNPs were indeed (still) significantly associated with the disease. The rs2004640(G) allele was associated with a slight protective effect (odds ratio 0.9, CI: 0.85-0.96, p = 0.002).
[PMID 18285424] Association with multiple sclerosis (along with several other SNPs) was observed after combining data from Swedish and Spanish case/control studies and a Finnish trio study.[PMID 19644887] STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis
[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome
[PMID 19877059] BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4
[PMID 20980283] The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype
[PMID 21239750] Association of IRF5 Polymorphisms with Susceptibility to Macrophage Activation Syndrome in Patients with Juvenile Idiopathic Arthritis[PMID 21471993] Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferon? therapy in multiple sclerosis
[PMID 22544929] IRF5 Risk Polymorphisms Contribute to Interindividual Variance in Pattern Recognition Receptor-Mediated Cytokine Secretion in Human Monocyte-Derived Cells.
[PMID 17133578] Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis.
[PMID 17158136] IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis.
[PMID 17393452] Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.
[PMID 17412832] Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
[PMID 17615072] The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.
[PMID 17940599] Assembly of inflammation-related genes for pathway-focused genetic analysis.
[PMID 18045485] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.
[PMID 18050197] Association of an IRF5 gene functional polymorphism with Sjogren's syndrome.
[PMID 18200047] IFN-regulatory factor 5 gene variants interact with the class I MHC locus in the Swedish psoriasis population.
[PMID 18438842] Association of interferon regulatory factor 5 haplotypes, similar to that found in systemic lupus erythematosus, in a large subgroup of patients with rheumatoid arthritis.
[PMID 18668568] Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.
[PMID 18752149] Association of IRF5 gene polymorphisms with rheumatoid arthritis in a Tunisian population.
[PMID 19043711] Association between the rs2004640 functional polymorphism of interferon regulatory factor 5 and systemic lupus erythematosus: a meta-analysis.
[PMID 19109131] Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.
[PMID 19302705] Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.
[PMID 19591781] The search for lupus biomarkers.
[PMID 19778912] Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis.
[PMID 19849816] Genetics of rheumatic disease.
[PMID 19918036] Lack of association between IRF5 gene polymorphisms and biopsy-proven giant cell arteritis.
[PMID 19918037] Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.
[PMID 19923204] Genetic background of systemic sclerosis: autoimmune genes take centre stage.
[PMID 20080916] Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells.
[PMID 20112383] Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.
[PMID 20137629] [Relationship between polymorphism sites of IRF5, TLR-9 and SLE patients in Shandong Han population].
[PMID 20231204] Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity.
[PMID 20383147] Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
[PMID 20439292] Genetic variants in the prediction of rheumatoid arthritis.
[PMID 20479942] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
[PMID 20639879] Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
[PMID 20652065] Interferon alpha in systemic lupus erythematosus.
[PMID 21149496] NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis.
[PMID 21834935] A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus.
[PMID 21898142] Association of IRF5 polymorphisms with susceptibility to hemophagocytic lymphohistiocytosis in children.
[PMID 22179739] Interferon regulatory factor 5 gene polymorphism confers risk to several rheumatic diseases and correlates with expression of alternative thymic transcripts.
[PMID 23073787] Associations between interferon regulatory factor 5 polymorphisms and rheumatoid arthritis: a meta-analysis
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23372721] The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis
[PMID 23392701] Association of rs10954213 polymorphisms and haplotype diversity in interferon regulatory factor 5 with systemic lupus erythematosus: A meta-analysis
[PMID 23801380] Association of the IRF5 rs2004640 polymorphism with rheumatoid arthritis: a meta-analysis
[PMID 24350899] Molecular Effects of Autoimmune-Risk Promoter Polymorphisms on Expression, Exon Choice, and Translational Efficiency of Interferon Regulatory Factor 5
[PMID 23288367] Interferon regulatory factor 5 polymorphisms in sarcoidosis.
[PMID 25036352] Association between IRF5 polymorphisms and autoimmune diseases: a meta-analysis
[PMID 24116155] Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis
|Disease||Systemic lupus erythematosus 10 Rheumatoid arthritis|
|CLNDBN||Systemic lupus erythematosus 10 Rheumatoid arthritis|
|CLNSRC||OMIM Allelic Variant|
[PMID 26294277] Genetic association and interaction between the IRF5 and TYK2 genes and systemic lupus erythematosus in the Han Chinese population