Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE The primary SNP of interest in a previous study of inflammatory bowel disease (IBD) (Arg381Gln; rs11209026) was found to be protective against AS in the Newfoundland population (P=0.04) and in the Toronto population (P=0.04) in single-marker univariate analysis. 18383363

2008

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant genotypes of IL23R G>A(rs11209026) (OR(CD,adj): 0.38, 95% CI: 0.21-0.67, p = 0.03; OR(IBD,adj) 0.43, 95% CI: 0.28-0.67, p = 0.007) and PTPN22 1858 G>A(rs2476601) (OR(CD,unadj) 0.54, 95% CI: 0.41-0.72, p = 7*10-4; OR(IBD,unadj): 0.61, 95% CI: 0.48-0.77, p = 0.001) were associated with reduced risk of CD. 24971461

2014

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE These results suggest that the IL-23R Arg381Gln seems not to be involved in the genetic predisposition to IBD in a Chilean population, and confirms that there are ethnic differences in the genetic background of IBD. 19103525

2008

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Distribution of the relevant alleles was compared between controls and IBD patients. rs11209026 and rs2241880 genotype distributions were examined both within IBD clinical subphenotypes and CARD15 genotypes. 17894849

2007

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Variants of IL23R gene were investigated for association with many diseases like chronic inflammatory disorders, RA, inflammatory bowel diseases and the susceptibility to the development of gastric cancer but no data are available concerning the association of IL23R gene (rs11209026) polymorphism with HCC development in HCV patients. 25666505

2015

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE The Arg381Gln (rs11209026) non-synonymous SNP was most significantly associated with IBD protection (odds ratio, 0.4; 95% confidence interval, 0.3-0.7). 17678845

2007

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Our meta-analysis demonstrated that the rs11209026 polymorphism might be a protective factor against developing IBD, while the rs10889677 polymorphism might be a risk factor for IBD. 31728561

2020

dbSNP: rs11209026
rs11209026
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

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE The Arg381Gln variant, which has a strong protective effect against inflammatory bowel disease, showed no association with AA. 19165485

2009

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE The IL-23R allele was negatively associated with inflammatory bowel disease (IBD): the R381Q SNP was undertransmitted in children with IBD (8 transmitted [T] versus 27 untransmitted [UT]; P = 0.001). 17309073

2007

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE In conclusion, our study demonstrated that the p.Val362Ile and Arg381Gln were not associated with susceptibility to IBD in Chinese Han population. 27765927

2016

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Our study suggests that variants in the NOD2 gene and the protective variant R381Q in IL23R are not associated with IBD in Indians. 21155887

2011

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE This may result from the fact that rs11209026, the nonsynonymous SNP in IL23R, is not polymorphic in Chinese patients, providing further evidence that rs11209026 is the key polymorphism associated with AS (and likely inflammatory bowel disease and psoriasis) in this gene. 19877036

2009

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE The rs11209026 and rs7517847 nucleotide substitutions were determined in 353 German children with IBD (221 CD, 132 UC) and 253 controls using pre-designed TaqMan((R)) SNP genotyping assays. 20192940

2010

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Interestingly, a functional single nucleotide polymorphism (SNP) in the IL-23 receptor gene (IL-23R; rs11209026, 1142 G wild-type A reduced function, Arg381Gln, R381Q) seems to confer a measure of protection against development of inflammatory bowel disease (IBD; Crohn's disease, ulcerative colitis), ankylosing spondylitis, rheumatoid arthritis, psoriasis, thyroiditis, recurrent spontaneous abortion and asthma, suggesting that a perturbation in the IL-23 signaling pathway is likely to be relevant to the pathophysiology of these diseases. 27043356

2016

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE To analyse the frequency of p.Arg381Gln in three independent European inflammatory bowel disease cohorts and to evaluate how this variant influences disease behaviour. 17877509

2007

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE To replicate the association of IL23R R381Q (rs11209026) with inflammatory bowel disease (IBD), examine the effect of the two nonsynonymous variations, Q3H and L310P, on IBD, and to study gender distribution of these variants in IBD patients. 19294505

2010

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE The rs11209026 SNP in IL23R had a protective effect for IBD in the case-control analysis (odds ratio [OR] 0.19, 95% confidence interval [CI] 0.10-0.37, P= 6.6E-09). 18047540

2008

dbSNP: rs11209026
rs11209026
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

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Analysis accounting for Arg381Gln suggested that other loci within IL23R also influence IBD susceptibility. 17484863

2007

dbSNP: rs3197999
rs3197999
0.850 GeneticVariation BEFREE Therefore, the gain of function observed with rs3197999 in MST1 might provide a cellular mechanism for the consistent association of this polymorphism with an increased risk for IBD and PSC. 22237417

2012

dbSNP: rs3197999
rs3197999
0.850 GeneticVariation BEFREE Importantly, we discovered that serum protein levels of MST1 (Macrophage Stimulating 1) were regulated by SNP rs3197999 (p = 5.96E-10, FDR<5%), an accepted GWAS locus for IBD. 28129359

2017

dbSNP: rs3197999
rs3197999
0.850 GeneticVariation BEFREE R689C is predicted to interfere with MSP binding to its receptor, suggesting a role for this gene in the pathogenesis of IBD. 19079170

2008

dbSNP: rs3197999
rs3197999
0.850 GeneticVariation BEFREE The polymorphisms rs9858542 (BSN) and rs3197999 (MST1), on 3p21 locus, have been found associated with susceptibility to IBD. 20024904

2010

dbSNP: rs3197999
rs3197999
0.850 GeneticVariation BEFREE Genome-wide association studies have identified and repeatedly confirmed the association of rs3197999 in MST1 with inflammatory bowel disease (IBD). 26355565

2015