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 Biomarker disease GENOMICS_ENGLAND
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 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 Biomarker disease LHGDN 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 Biomarker disease BEFREE We further investigated the relationship between IL23R and ulcerative colitis (UC). 17508420 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 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 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 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 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 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 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 CTD_human 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 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 By contrast, variation in the gene encoding the interleukin-23 (IL-23) receptor subunit, as well as in the IL12B, STAT3 and NKX2-3 gene regions, is associated with both Crohn's disease and ulcerative colitis. 18500230 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease LHGDN Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 19122664 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 Biomarker disease CTD_human Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 19122664 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASCAT Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 19122664 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation disease GWASDB Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 19122664 2009
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 GeneticVariation disease LHGDN 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 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 The results suggest that IL23R R381Q confers protection against CD and that L310P confers protection against UC in females. 19294505 2010
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