SNP information rs10488631

Research and publications:

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

  17568788   Opposed independent effects and epistasis in the complex association of IRF5 to SLE.

  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.

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

  18579578   A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.

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

  18843782   Different genetic effects of interferon regulatory factor 5 (IRF5) polymorphisms on systemic lupus erythematosus in a Korean population.

  19092842   Additive effects of major IRF5 and STAT4 risk alleles in primary Sjögren's syndrome.

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

  19373277   Validating, augmenting and refining genome-wide association signals

  19458352   Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

  19838195   A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

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

  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.

  20368557   Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival.

  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.

  20453842   Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

  20510233   Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritis.

  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.

  20639880   Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

  20805105   Synthetic associations in the context of genome-wide association scan signals

  20933377   Recent findings on genetics of systemic autoimmune diseases.

  21120996   Most common single-nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans.

  21211616   Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records.

  21379322   Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.

  21408207   Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

  21437871   Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus.

  21506939   Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort.

  21595938   Polymorphisms associated with rheumatoid arthritis do not protect against Alzheimer's disease.

  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.

  21807777   Preferential association of interferon regulatory factor 5 gene variants with seronegative rheumatoid arthritis in 2 Swedish case-control studies.

  21931699   Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset.

  21952740   Replication of association of the PTPRC gene with response to anti-tumor necrosis factor therapy in a large UK cohort.

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

  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.

  22174698   A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.

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

  22294642   Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap.

  22328738   Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.

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

  22440820   IRF5 polymorphism predicts prognosis in patients with systemic sclerosis.

  22508400   Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) identifies common susceptibility loci with rheumatoid arthritis.

  22541939   Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study.

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

  22661644   Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients.

  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.

  22870458   Modern aspects of the pathogenesis of Sjögren's syndrome.

  22936693   Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

  23049788   Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study.

  23121884   Investigation of Caucasian rheumatoid arthritis susceptibility loci in African patients with the same disease.

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

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

  23326239   A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

  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.

  23840476   Identification of the tyrosine-protein phosphatase non-receptor type 2 as a rheumatoid arthritis susceptibility locus in europeans.

  23941291   Identification of three new cis-regulatory IRF5 polymorphisms: in vitro studies.

  24068971   Predicting the risk of rheumatoid arthritis and its age of onset through modelling genetic risk variants with smoking.

  24274136   Biobanking across the phenome - at the center of chronic disease research.

  24386384   Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.

  24449572   Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.

  24653663   Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations.

  24871463   GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

  24946689   Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus.

  25130328   Interferon regulatory factor 3 as key element of the interferon signature in plasmacytoid dendritic cells from systemic lupus erythematosus patients: novel genetic associations in the Mexican mestizo population.

  25332064   An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3.

  25519344   Analysis of the progression of systolic blood pressure using imputation of missing phenotype values.

  25652333   Genetics of serum concentration of IL-6 and TNFα in systemic lupus erythematosus and rheumatoid arthritis: a candidate gene analysis.

  25690649   Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.

  25777745   Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.

  26092158   IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups.

  26106387   Pathogenesis of Systemic Sclerosis.

  26606652   Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.

  26798662   Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype.

  26843965   Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis.

  27014188   Analysis of genetic susceptibility to Graves' disease in a cohort of patients of Italian origin.

  27092776   A Combination of CD28 (rs1980422) and IRF5 (rs10488631) Polymorphisms Is Associated with Seropositivity in Rheumatoid Arthritis: A Case Control Study.

  27134258   Analysis of Systemic Sclerosis-associated Genes in a Turkish Population.

  27313329   Genetic risk factors for sclerotic graft-versus-host disease.

  27338350   Rheumatoid Arthritis: The Stride from Research to Clinical Practice.

  27906046   Chromatin landscapes and genetic risk in systemic lupus.

  28056976   A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients.

  28185859   Association of IRF5 polymorphisms with increased risk for systemic lupus erythematosus in population of Crete, a southern-eastern European Greek island.

  28199970   Three single nucleotide polymorphisms of TNFAIP3 gene increase the risk of rheumatoid arthritis.

  28434122   The status of pulmonary fibrosis in systemic sclerosis is associated with IRF5, STAT4, IRAK1, and CTGF polymorphisms.

  29070082   Sex influences eQTL effects in SLE and genetic polymorphisms associated with Sjögren's syndrome.

  29315334   Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

  29375210   Genetic variants of interferon regulatory factor 5 associated with chronic hepatitis B infection.

  29476163   Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature.

  29867973   Lineage-Specific Functionality of an Interferon Regulatory Factor 5 Lupus Risk Haplotype: Lack of B Cell Intrinsic Effects.

  30168487   The IRF5 rs2004640 (G/T) polymorphism is not a genetic risk factor for systemic lupus erythematosus in population from south India.

  30327483   Phenome-wide association studies across large population cohorts support drug target validation.

  30515152   Therapeutic Targeting of IRFs: Pathway-Dependence or Structure-Based?

  30643196   POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.

  30770922   Genetics and epigenetics of primary Sjögren's syndrome.

  31156624   Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients.