Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11209026
rs11209026
G 0.900 GeneticVariation GWASCAT Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. 21743469

2011

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE The minor allele of two SNPs, one in chromosome region 1q32 SNP (rs11584383), and one in the gene coding for <i>IL23R</i> (rs11209026) conferred protection against AS. 29967744

2018

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
G 0.900 GeneticVariation GWASCAT Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. 23749187

2013

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Meta-analysis also revealed a significant association between the two alleles of the rs11209026 and the rs11465804 polymorphisms and the risk of developing AS in Europeans. 22089529

2012

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE We replicated associations between AS and the polymorphisms in TNF (rs1800629), TNFRSF1A (rs4149570), and IL23R (rs11209026). 30208882

2018

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation GWASCAT Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. 20062062

2010

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation GWASDB Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. 20062062

2010

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Genome-wide association studies have shown that the IL23R R381Q gene variant protects against psoriasis, Crohn's disease and ankylosing spondylitis. 21364948

2011

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Our study replicated the robust association between rs11209026 and AS in the French population. 23818276

2013

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE Haplotype and conditional analysis of 4230 historical AS cases and 9700 controls revealed a possible AS-associated extended haplotype, including the PRE and risk variants at three SNPs (rs11209026, rs11209032 and rs924080), but excluding the rs11578380 risk variant. 28381868

2017

dbSNP: rs11209026
rs11209026
G 0.900 GeneticVariation GWASDB Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. 21743469

2011

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis. 18199597

2008

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 The results indicate that the nine SNPs (rs11209026, rs1004819, rs10489629, rs11465804, rs1343151, rs11209032, rs1495965, rs7517847, rs2201841) of IL-23R are associated with AS susceptibility in all study subjects in the allelic model. 30322951

2018

dbSNP: rs11209026
rs11209026
0.900 GeneticVariation BEFREE By contrast, the GA heterozygous genotype of rs11209026 variant showed a significant decrease in AS patients compared with controls. 19522770

2009

dbSNP: rs30187
rs30187
0.900 GeneticVariation BEFREE This meta-analysis shows that the rs27044, rs17482078, rs10050860, rs30187, and rs2287987 polymorphisms of ERAP1 are associated with the development of AS in Europeans. 21877190

2011

dbSNP: rs30187
rs30187
0.900 GeneticVariation BEFREE There was a significant association between ERAP1 polymorphisms (rs30187 and rs27037) and increased risk of AS susceptibility. 30461632

2018

dbSNP: rs30187
rs30187
0.900 GeneticVariation BEFREE Except in rs27434 (P = 0.23), the significant correlation between ERAP1 polymorphisms and AS susceptibility has been detected in rs27044 (OR 1.57, P < 0.001), rs17482078 (OR 1.271, P < 0.001), rs10050860 (OR 0.772, P = 0.006), rs30187 (OR 1.348, P < 0.001), rs2287987 (OR 0.746, P < 0.001) and rs27037 (OR 1.257, P = 0.001). 21229357

2012

dbSNP: rs30187
rs30187
0.900 GeneticVariation BEFREE The rs17482078/rs10050860/rs30187-CCT haplotype was significantly associated with increased risk of SpA in both cohorts (P(combined)= 9.08×10(-4)), including AS and non-AS (P(combined)=6.16×10(-4) and P(combined)=0.049, respectively), whereas the -TTC haplotype was associated with reduced risk of SpA, including AS and non-AS (P(combined)=2.36×10(-7), P(combined)= 5.69×10(-6) and P(combined)= 2.13×10(-4), respectively). 22896742

2013

dbSNP: rs30187
rs30187
0.900 GeneticVariation BEFREE Additionally, it appears that rs30187 polymorphism may be involved in the immunomodulation of the IL-17/IL-23 pathway in the AS disease. 31711818

2020

dbSNP: rs30187
rs30187
0.900 GeneticVariation BEFREE SNPs rs27044 (p=9.37 x 10(-7)) and rs30187 (p=7.16 x 10(-6)) of ARTS1 were significantly associated with AS in Koreans. 19414429

2010

dbSNP: rs30187
rs30187
T 0.900 GeneticVariation GWASCAT Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. 23749187

2013

dbSNP: rs30187
rs30187
0.900 GeneticVariation BEFREE The significant alterations in the B*27:05 peptidome and the structural features of the peptides that determine their differential expression in distinct ERAP1 contexts account for the association of the R528K polymorphism with AS. 25469497

2015

dbSNP: rs30187
rs30187
0.900 GeneticVariation BEFREE The meta-analysis showed that rs27037 and rs30187 were strongly associated with AS (P < 0.00001). 25817437

2015