IL23R, interleukin 23 receptor, 149233

N. diseases: 306; N. variants: 49
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE In addition to the IL2/IL21 locus, we observed association of the TT genotype of SNP rs1545620 in MYO9B with UC (P = 0.0169; OR = 0.29, 95% CI 0.11-0.78) and association of rs17375018 in IL23R with pancolitis in Chinese UC patients (P = 0.002; OR = 2.38, 95% CI 1.41-4.02). 21648020 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE The data show an association of both IL23R SNPs with overall IBD (statistically stronger, rs7517847; odds ratio [OR] = 0.79, 95% confidence interval [CI]: 0.67-0.94, minor allele frequencies: 0.355 in IBD patients versus 0.410 in controls; P = 0.005), somewhat stronger in Crohn's disease (OR = 0.74, 95% CI: 0.61-0.91) than in ulcerative colitis (OR = 0.84, 95% CI: 0.69-1.03). 18383521 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE Th17 T<sub>EM</sub> cells (expressing <i>IL17A, IL17F, RORC</i>, and <i>STAT3</i>) displayed a higher pathogenic/cytotoxic (<i>IL23R, IL18RAP</i>, and <i>GZMB, CD160, PRF1</i>) gene signature in CD relative to UC, while non-pathogenic/regulatory genes (<i>IL9, FOXP3, CTLA4</i>) were more elevated in UC. 31191543 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE IL23R was associated with CD and UC only in the absence of CARD15 mutations, whereas ATG16L1 was associated with CD in the presence and absence of CARD15 mutations. 17894849 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE This study examined the association of IL23R and IL17A gene SNPs with ulcerative colitis susceptibility in a population in China. 22984500 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE We were able to replicate the association of the IL23R variants with CD as well as HLA-DRB1*0103 with UC; confirmation of TNFRSF1A association with UC needs additional studies. 18338763 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE The association of genes in the epithelial barrier and the Th17-IL23R pathways were similar in the Japanese and European UC populations. 26511940 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE We found 14 SNPs tagging 9 loci, including 21q21.1, NKX2-3, MST1, the HLA region, 1p36.13, IL10, JAK2, ORMDL3, and IL23R, to be associated with UC. 23974994 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. 24971461 2014
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Both CD (OR 0.14, CI 0.06-0.37, P= 3.9E-07) and UC (OR 0.33, CI 0.15-0.73, P= 1.4E-03) were associated with IL23R. 18047540 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE 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. 19455118 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 AlteredExpression disease BEFREE Additionally, the mRNA and protein expression of JAK2 and IL-23R were increased in UC and Crohn's disease (CD) patients. 24382939 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis. 17877509 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE We confirm the association of CD with variants in the IL-23R and ATG16L1 genes and the more modest association of the IL-23R R381Q variant with UC. 19276991 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), rs2066845" genes_norm="64127">Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - rs11209026;rs901312933" genes_norm="149233;55054">Arg381Gln (rs11209026) and ATG16L1 - rs2241880;s2241880;rs1384936174" genes_norm="55054;64127">Thr300Ala (rs2241880). 20082483 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Most notably, polymorphisms in the interleukin (IL)-23 receptor have also been linked to IBD - both CD and ulcerative colitis. 25523553 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Given the association of IL23R with inflammatory bowel disease (IBD), we characterized the role of IL-17F in IBD including its intestinal gene expression and the effect of the IL17F p.His161Arg polymorphism on disease susceptibility and phenotype of Crohn's disease (CD) and ulcerative colitis (UC). 18088064 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE Replication studies confirmed IL23R associations in independent cohorts of patients with Crohn's disease or ulcerative colitis. 17068223 2006
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Genome-wide association studies (GWAS) in several populations have demonstrated significant association of the IL23R gene with IBD (Crohn's disease (CD) and ulcerative colitis (UC)) and psoriasis, suggesting that perturbation of the IL-23 signaling pathway is relevant to the pathophysiology of these diseases. 22022372 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE The aims of the study were to replicate the association with CD, examine subphenotype associations and statistical interactions with CARD15, IL23R, and the IBD5 risk haplotype, as well as explore the association with UC. 17455206 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE Eight single nucleotide polymorphism markers in IL23R tested in the North American study were genotyped in 1902 cases of Crohn's disease (CD), 975 cases of ulcerative colitis (UC), and 1345 controls using MassARRAY. 17484863 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE IL23R is an IBD susceptibility gene, but has no epistatic interaction with CARD15 and SLC22A4/5. rs1004819 is the major IL23R variant associated with CD in the German population, while the p.Arg381Gln IL23R variant is a protective marker for CD and UC. 17786191 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE Our study is the first to demonstrate association of IL23R with CD and UC in Swedish patients with IBD. 19175939 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease BEFREE We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. 18438406 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease BEFREE In stratification analysis by ethnicity, we observed that the rs11209026 and rs7517847 polymorphism of IL-23R could protect against development of UC among Caucasian populations [rs11209026: dominant model (P=0.01, OR=0.69, 95%CI: 0.52-0.92); rs7517847: GG vs. TT (P=0.002, OR=0.69, 95%CI: 0.54-0.87); recessive model (P=0.004, OR=0.73, 95% CI: 0.59-0.90)]; the rs11209032 were associated with a greater risk for UC in Caucasian populations [dominant model (P=0.04, OR=1.13, 95%CI: 1.00-1.26)]; the rs1088967 were associated with a lower risk for UC among Asian populations [dominant model (P=0.04, OR=0.73, 95%CI: 0.54-0.99)]. 25497273 2015