SNP information rs2004640

Research and publications:

  15657875   Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.

  16642019   A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.

  17133578   Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis.

  17158136   IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis.

  17166181   Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE).

  17189288   Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation.

  17389033   Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population.

  17393452   Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.

  17412832   Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.

  17599733   Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis.

  17615072   The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.

  17940599   Assembly of inflammation-related genes for pathway-focused genetic analysis.

  18045485   The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes

  18063667   Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus.

  18200047   IFN-regulatory factor 5 gene variants interact with the class I MHC locus in the Swedish psoriasis population.

  18285424   Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.

  18288123   Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans.

  18311811   Association of IRF5 polymorphisms with systemic lupus erythematosus in a Japanese population: support for a crucial role of intron 1 polymorphisms.

  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.

  18668568   Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.

  18752149   Association of IRF5 gene polymorphisms with rheumatoid arthritis in a Tunisian population.

  18843785   Putative role of functional interferon regulatory factor 5 (IRF5) polymorphism in rheumatoid arthritis in a Korean population.

  19019891   STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk.

  19043711   Association between the rs2004640 functional polymorphism of interferon regulatory factor 5 and systemic lupus erythematosus: a meta-analysis.

  19109131   Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.

  19116937   Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.

  19228650   Association of polymorphisms in interferon regulatory factor 5 gene with rheumatoid arthritis: a metaanalysis.

  19302705   Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.

  19373277   Validating, augmenting and refining genome-wide association signals

  19440199   Recent insights into the genetic basis of systemic lupus erythematosus.

  19440200   Identification of new SLE-associated genes with a two-step Bayesian study design

  19479858   Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population.

  19591781   The search for lupus biomarkers

  19644876   Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome.

  19644887   STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis.

  19778912   Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis.

  19849816   Genetics of rheumatic disease.

  19854706   Association of IRF5 polymorphisms with activation of the interferon alpha pathway.

  19877059   BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4.

  19918036   Lack of association between IRF5 gene polymorphisms and biopsy-proven giant cell arteritis.

  19918037   Association of interleukin 23 receptor polymorphisms with anti-topoisomerase-I positivity and pulmonary hypertension in systemic sclerosis.

  19923204   Genetic background of systemic sclerosis: autoimmune genes take centre stage

  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.

  20112359   Genetic variation at the IRF7/PHRF1 locus is associated with autoantibody profile and serum interferon-alpha activity in lupus patients.

  20112383   Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.

  20137629   [Relationship between polymorphism sites of IRF5, TLR-9 and SLE patients in Shandong Han population].

  20209114   Infection in systemic lupus erythematosus: friend or foe?

  20231204   Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity.

  20383147   Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

  20392289   Genetic associations in type I interferon related pathways with autoimmunity.

  20439292   Genetic variants in the prediction of rheumatoid arthritis.

  20441431   Recent advances in the genetics of systemic lupus erythematosus.

  20479942   Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.

  20605164   Gene-gene-sex interaction in cytokine gene polymorphisms revealed by serum interferon alpha phenotype in juvenile dermatomyositis.

  20639879   Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.

  20652065   Interferon alpha in systemic lupus erythematosus.

  20807474   The genetics of systemic sclerosis.

  20933377   Recent findings on genetics of systemic autoimmune diseases.

  20980283   The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype.

  21060334   Genetic susceptibility to systemic lupus erythematosus in the genomic era.

  21131644   Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis.

  21149496   NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis.

  21239750   Association of IRF5 polymorphisms with susceptibility to macrophage activation syndrome in patients with juvenile idiopathic arthritis.

  21471993   Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonβ therapy in multiple sclerosis.

  21627826   Cis-regulation of IRF5 expression is unable to fully account for systemic lupus erythematosus association: analysis of multiple experiments with lymphoblastoid cell lines.

  21750679   Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.

  21779181   Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

  21834935   A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus.

  21898142   Association of IRF5 polymorphisms with susceptibility to hemophagocytic lymphohistiocytosis in children.

  21968701   Interferon regulatory factor 5 activation in monocytes of systemic lupus erythematosus patients is triggered by circulating autoantigens independent of type I interferons.

  21980439   A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis.

  22088620   IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus.

  22095823   Genetic variation of pre-mRNA alternative splicing in human populations.

  22102179   Genetics of systemic sclerosis: an update.

  22162633   Activation of type I interferon pathway in systemic lupus erythematosus: association with distinct clinical phenotypes.

  22179739   Interferon regulatory factor 5 gene polymorphism confers risk to several rheumatic diseases and correlates with expression of alternative thymic transcripts.

  22257839   A two-marker haplotype in the IRF5 gene is associated with inflammatory bowel disease in a North American cohort.

  22407130   Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.

  22427729   Inherited variation in pattern recognition receptors and cancer: dangerous liaisons?

  22440820   IRF5 polymorphism predicts prognosis in patients with systemic sclerosis.

  22531499   A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis.

  22536486   Lupus nephritis: an overview of recent findings.

  22544929   IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.

  22640752   The genetics of lupus: a functional perspective.

  22654485   Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.

  22674082   Brief Report: IRF5 systemic lupus erythematosus risk haplotype is associated with asymptomatic serologic autoimmunity and progression to clinical autoimmunity in mothers of children with neonatal lupus.

  22909381   IRF5 gene polymorphisms in melanoma.

  23026857   The genetics of scleroderma: looking into the postgenomic era.

  23073787   Associations between interferon regulatory factor 5 polymorphisms and rheumatoid arthritis: a meta-analysis.

  23227085   Genetics of SLE: functional relevance for monocytes/macrophages in disease.

  23251221   Interferon regulatory factor 5 in the pathogenesis of systemic lupus erythematosus.

  23288367   Interferon regulatory factor 5 polymorphisms in sarcoidosis.

  23349905   RNA-Seq for enrichment and analysis of IRF5 transcript expression in SLE.

  23372721   The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.

  23392701   Association of rs10954213 polymorphisms and haplotype diversity in interferon regulatory factor 5 with systemic lupus erythematosus: a meta-analysis.

  23801380   Association of the IRF5 rs2004640 polymorphism with rheumatoid arthritis: a meta-analysis.