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 We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 in CD, 0.19 in controls, OR 1.5, p = 9×10-6) and IL23R (rs11209026, 0.026 in CD, 0.0.071 in controls, OR 0.4, p = 3.8×10-4). 25259511 2014
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 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 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 This data provides an explanation for the protective role of R381Q in CD and may lead to the development of improved therapeutics for autoimmune disorders like CD. 22022372 2011
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 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 The rare Q allele of IL23R rs11209026 polymorphism was underrepresented in both paediatric and adult CD cases (P = 0.0018 and P = 0.04, respectively) and no difference was observed between the childhood and the adult cohort. 20380008 2010
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 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 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 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 Specifically the G149R, V362I, and R381Q IL23Rα chain variants are linked to protection against the development of Crohn disease and ulcerative colitis in humans. 26887945 2016
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 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 Polymorphisms R702W, G908R, and 3020insC of NOD2/CARD15; rs2241880 A/G of ATG16L1, and rs11209026 (R381Q) of IL23R gene were assessed in 110 childhood-onset CD, 364 adult-onset CD, and 539 healthy individuals. 20380008 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Our study provides additional support for the strong protection of the rs11209026 (p.Arg381Gln) variant against paediatric CD. 20192940 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE Our meta-analysis supports that two polymorphisms (Arg381Gln and rs7517847) within the IL-23R gene may be considered to be protective factors against developing CD. 20157760 2010
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 GWASDB One is SNP rs11209026 in exon 9 of IL23R for association with Crohn's disease, which is predicted to be probably damaging by PolyPhen2. 22293688 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation GWASCAT One is SNP rs11209026 in exon 9 of IL23R for association with Crohn's disease, which is predicted to be probably damaging by PolyPhen2. 22293688 2012
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.900 GeneticVariation BEFREE One is SNP rs11209026 in exon 9 of IL23R for association with Crohn's disease, which is predicted to be probably damaging by PolyPhen2. 22293688 2012
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
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
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