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SNP information rs1004819

RS1004819

Normal allele: GG

rs1004819 is the major IL23R variant associated with Crohn's disease with early onset.

Polymorphism rs1004819 is related to topics like this:

Crohn's disease genetic

A chronic disorder known as Crohn's disease is a multi-faceted condition that primarily impacts the...


Research and publications:

  17678723   Investigation of the IL23R gene in a Spanish rheumatoid arthritis cohort.

  17786191   rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: a combined analysis of IL23R, CARD15 and OCTN1/2 variants.

  17952073   Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

  18047539   Association between genetic variants in the IL-23R gene and early-onset Crohn's disease: results from a case-control and family study among Canadian children.

  18200510   CARD15 and IL23R influence Crohn's disease susceptibility but not disease phenotype in a Brazilian population.

  18439550   Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

  18470928   IL23R haplotypes confer a high population risk of developing Crohn's disease.

  18698678   Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

  18715515   Lack of evidence linking primary sclerosing cholangitis and primary biliary cirrhosis with Crohn's disease risk alleles in Polish patients.

  18779654   Association of polymorphisms in the Interleukin 23 receptor gene with osteonecrosis of femoral head in Korean population.

  19034457   Lack of association between interleukin 23 receptor gene polymorphisms and rheumatoid arthritis susceptibility.

  19122664   Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

  19165485   Interleukin-23 receptor (IL-23R) gene polymorphisms in acquired aplastic anemia.

  19175939   IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.

  19235914   Genetic epistasis of IL23/IL17 pathway genes in Crohn's disease.

  19306001   No association between interleukin 23 receptor gene polymorphisms and systemic lupus erythematosus.

  19334001   Contribution of IL23R, but not ATG16L1, to Crohn's disease susceptibility in Koreans.

  19455118   Novel genetic risk markers for ulcerative colitis in the IL2/IL21 region are in epistasis with IL23R and suggest a common genetic background for ulcerative colitis and celiac disease.

  19455129   Epistasis between Toll-like receptor-9 polymorphisms and NOD2 and IL23R variants modulates susceptibility to Crohn's disease.

  19522770   Variants of the IL23R gene are associated with ankylosing spondylitis but not with Sjögren syndrome in Hungarian population samples.

  19757086   Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients.

  19916168   Genome-wide association studies--a summary for the clinical gastroenterologist.

  19917163   Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population.

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

  20066736   Interaction of major susceptibility alleles to inflammatory bowel disease in patients with Crohn's disease.

  20195480   Cannabinoid receptor 1 (CNR1) polymorphism 1359 G/A modulates susceptibility to ulcerative colitis and the Crohn's disease phenotype.

  20380008   Polymorphism of the NOD2/CARD15, ATG16L1 and IL23R genes and the onset of Crohn's disease in childhood.

  20454450   Evidence that STAT4 is a common autoimmune gene: rs7574865 is associated with Crohn's disease of the colon and early onset of the disease.

  20485703   A replication and meta-analysis of 13,000 cases determines the risk of interleukin-23 receptor and autophagy-related 16-like variants 1 in Crohn's disease.

  20953188   Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.

  21079743   Interaction of Crohn's disease susceptibility genes in an Australian pediatric cohort.

  21090563   Blockade of cytotoxic T-lymphocyte antigen-4 by ipilimumab results in dysregulation of gastrointestinal immunity in patients with advanced melanoma.

  21151597   IL23R polymorphisms and Fuchs syndrome in the Chinese Han population.

  21209938   NOD2 single nucleotide polymorphisms rs2066843 and rs2076756 are novel and common variants of the Crohn's disease susceptibility gene.

  21253733   Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.

  21304977   An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

  21427131   Improved Crohn's disease risk prediction using a multilocus approach.

  21559399   CEACAM6 gene variants in inflammatory bowel disease.

  22089529   Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.

  22123319   A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma.

  22154103   Genetic variability in IL23R and risk of colorectal adenoma and colorectal cancer.

  22219593   The role of genetics in the diagnosis and prognosis of Crohn's disease.

  22242114   The role of osteopontin haplotypes (OPN/SPP1) in susceptibility to Crohn's disease.

  22253516   The role of genetics in the diagnosis and prognosis of Crohn's disease.

  22269043   Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population.

  22346247   The role of ATG16L, NOD2 and IL23R in the pathogenesis of Crohn's disease.

  22440928   Perianal Crohn's disease: prognostic factors and genotype-phenotype correlations.

  22457781   Variants in the PTPN2 gene are associated with susceptibility to both Crohn's disease and ulcerative colitis, supporting a common genetic basis for the disease.

  22479607   Analysis of IL12B gene variants in inflammatory bowel disease.

  22908971   Association between genetic polymorphisms of inflammatory bowel disease gene 5 (IBD5) and interleukin-23 receptor (IL23R) in Malaysian patients with Crohn's disease.

  22984500   Association of single nucleotide polymorphisms of IL23R and IL17 with ulcerative colitis risk in a Chinese Han population.

  23053963   Associations between interleukin-23 receptor polymorphisms and susceptibility to rheumatoid arthritis: a meta-analysis.

  23054009   A diversity of IL23R gene haplotype variants was noted in rheumatoid arthritis compared to Crohn's disease and ankylosing spondylitis.

  23300802   Polymorphisms modulating PTGER4 expression in the 5p13.1 region predispose to Crohn's disease and affect NF-κB and XBP1 binding sites.

  23365659   IRGM variants and susceptibility to inflammatory bowel disease in the German population.

  24046467   Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals.

  24175098   The role of 39 psoriasis risk variants on age of psoriasis onset.

  24223725   Intestinal DMBT1 expression is modulated by IL23R variants associated with Crohn's disease and a DMBT1 variant that affects the binding of the transcription factors CREB1 and ATF-2.

  24332578   Marked differences of haplotype tagging SNP distribution, linkage, and haplotype profile of IL23 receptor gene in Roma and Hungarian population samples.

  25048429   Association of IL23R and ATG16L1 with susceptibility to Crohn's disease in a Chinese population.

  25133031   Genetic update on inflammatory factors in ulcerative colitis: Review of the current literature.

  25156021   Association of interleukin-23 receptor gene polymorphism with Behçet disease.

  25497273   Interleukin-23 receptor genetic polymorphisms and ulcerative colitis susceptibility: A meta-analysis.

  26678098   Association of interleukin-23 receptor gene polymorphisms with susceptibility to Crohn's disease: a meta-analysis.

  26833331   Retrospective Binary-Trait Association Test Elucidates Genetic Architecture of Crohn Disease.

  26861312   Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease.

  26987707   Lack of association between polymorphisms in interleukin (IL)-12, IL-12R, IL-23, IL-23R genes and Takayasu arteritis in a Chinese population.

  27156530   Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

  27303667   Genetic influences on the development of fibrosis in Crohn's disease.

  27536362   Biomarkers of intestinal fibrosis - one step towards clinical trials for stricturing inflammatory bowel disease.

  27810495   Psoriasis risk SNPs and their association with HIV-1 control.

  27902482   IL-23R mutation is associated with ulcerative colitis: A systemic review and meta-analysis.

  28210080   IL23R single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis.

  28603427   Pharmacogenetics in inflammatory bowel disease: understanding treatment response and personalizing therapeutic strategies.

  28717429   Circulating concentrations of interleukin (IL)-17 in patients with multiple sclerosis: Evaluation of the effects of gender, treatment, disease patterns and IL-23 receptor gene polymorphisms.

  29148561   The role of IL-23 receptor signaling in inflammation-mediated erosive autoimmune arthritis and bone remodeling.

  29691688   Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: an updated meta-analysis.

  29900935   Association of rs11209032 and rs1004819 Polymorphisms in Interleukin-23 Receptor Gene With Ankylosing Spondylitis.

  29944013   Complex role of IL-23R polymorphisms on ankylosing spondylitis: a meta-analysis.

  30322951   Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: a systematic review and meta-analysis.

  30646942   Association between IL23R and ERAP1 polymorphisms and sacroiliac or spinal MRI inflammation in spondyloarthritis: DESIR cohort data.

  31052430   Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

  31052515   Relationship between IL23R SNP and susceptibility and phenotype of Crohn's disease in Polish and Bosnian populations: a case-control study.

  31577850   Paradoxical psoriasis induced by TNF-α blockade shows immunological features typical of the early phase of psoriasis development.

  31799225   Association of IL23R variants with Crohn's disease in Korean children.

  32984386   Personalizing Treatment in IBD: Hype or Reality in 2020? Can We Predict Response to Anti-TNF?

  33324152   The Association Study of IL-23R Polymorphisms With Cerebral Palsy in Chinese Population.

  33978821   IL-23R gene polymorphisms in rheumatoid arthritis.

  34539646   Targeting the Interleukin-23/Interleukin-17 Inflammatory Pathway: Successes and Failures in the Treatment of Axial Spondyloarthritis.

  35086377   Association between interleukin 12B and interleukin 23R gene polymorphisms and systemic lupus erythematosus: a meta-analysis.

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