rs11209026, IL23R

N. diseases: 46
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE An uncommon coding variant (rs11209026, c.1142G>A, p.Arg381Gln) confers strong protection against Crohn's disease, and additional noncoding IL23R variants are independently associated. 17068223 2006
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASDB Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 17447842 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASCAT Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 17447842 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE A highly significant association with CD was observed, with the strongest signal at coding variant Arg381Gln (allele frequency, 2.5% in CD vs 6.2% in controls [P = 1.1 x 10(-12)]; odds ratio, 0.38; 95% confidence interval, 0.29-0.50). 17484863 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Recently an association was shown between the single nucleotide polymorphism (SNP), rs11209026, within the interleukin-23 receptor (IL23R) locus and Crohn's disease (CD) as a consequence of a genome-wide association study of this disease in adults. 17618837 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASDB Systematic association mapping identifies NELL1 as a novel IBD disease gene. 17684544 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASCAT Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASDB Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The p.Arg381Gln IL23R variant confers a protective effect against both CD and UC, but does not determine disease phenotype. 17877509 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease. 17894849 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE We also provide further evidence for association of rs11209026</span> with UC and a report of an additive effect between IL23R and CARD15 genotypes in CD. 17894849 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric and adult Crohn disease. 18030204 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE One, an uncommon coding variant (rs11209026) in the gene encoding for the interleukin-23 receptor (IL23R), conferred strong protection against CD. 18047540 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The rs11209026 SNP, which is the most strongly associated with Crohn's disease, was not associated with GD or GO in our data set. 18073300 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Variants of CARD15 (3020insC and R702W) and IL23R (rs1004819, rs11209026, and rs1088967) were associated with CD. 18200510 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Recent studies have shown that a nonsynonymous single-nucleotide polymorphism (SNP) (Arg381Gln; rs11209026) in the interleukin-23 receptor (IL-23R) gene on chromosome 1p31 is associated with Crohn's disease and psoriasis. 18383363 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE These observations suggest that IL23R makes a substantial contribution to CD susceptibility, larger than that estimated from the population frequency of the R381Q variant. 18470928 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The rare allele of a non-synonymous interleukin 23 receptor (IL23R) single nucleotide polymorphism (SNP) rs11209026 (p.Arg381Gln) confers strong protection against Crohn disease (CD) and psoriasis. 18647855 2009
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE The results suggest that IL23R R381Q confers protection against CD and that L310P confers protection against UC in females. 19294505 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE An association of variants in the genes encoding the interleukin 23 receptor (IL23R, p.Arg381Gln, rs11209026), and the autophagy-related gene 16-like 1 (ATG16L1, p.Ala197Thr, rs2241880) with Crohn disease (CD) was identified by whole genome association studies, and subsequently confirmed by other works. 19590455 2009
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE An association of variants in the genes encoding the interleukin 23 receptor (IL23R, p.Arg381Gln, rs11209026), and the autophagy-related gene 16-like 1 (ATG16L1, p.Ala197Thr, rs2241880) with Crohn disease (CD) was identified by whole genome association studies, and subsequently confirmed by other works. 19590455 2009
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation 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), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880). 20082483 2010