|
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 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Among the 16 AS-associated variants, rs30187 showed weaker risk effect while rs10050860 and rs12504282 seemed to attribute more risk in Han Chinese than Caucasians.
|
31523044 |
2019 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The strongest association with AS was observed for rs30187.
|
30794838 |
2019 |
|
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 |
|
rs11209026
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We replicated associations between AS and the polymorphisms in TNF (rs1800629), TNFRSF1A (rs4149570), and IL23R (rs11209026).
|
30208882 |
2018 |
|
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 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
There was a significant association between ERAP1 polymorphisms (rs30187 and rs27037) and increased risk of AS susceptibility.
|
30461632 |
2018 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Three polymorphisms that affect peptide trimming protect from AS: K528R, D575N/R725Q, and Q730E.
|
29632046 |
2018 |
|
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 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Segregating according to HLAB27 status did not alter the lack of association. rs30187 SNP in ERAP1 does not confer risk of developing ERA or AS in the Asian Indian population.
|
28161768 |
2017 |
|
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 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The risk of AS is increased in patients possessing endoplasmic reticulum aminopeptidase-1 (ERAP1) polymorphisms rs30187 and rs27044 encoding amino acid changes K528R and Q730E, respectively.
|
26321090 |
2016 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Heterogeneity testing showed that rs30187 in ERAP1 has a larger effect on AAU compared with that in AS alone.
|
26610302 |
2016 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The ERAP1 rs27044/rs30187 haplotype C/T is associated with lower risk of extraspinal disease and systemic inflammation in Nordic AS patients but has no impact on IL-6 or TNF levels.
|
27095091 |
2016 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The meta-analysis revealed a significant association between AS and the minor alleles of the rs30187 polymorphism in all study subjects (OR = 1.255, 95 % CI = 1.147-1.373, P = 8.0 × 10(-8)).
|
27108589 |
2016 |
|
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 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The meta-analysis showed that rs27037 and rs30187 were strongly associated with AS (P < 0.00001).
|
25817437 |
2015 |
|
rs11209026
|
|
G |
0.900 |
GeneticVariation |
GWASCAT |
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
|
23749187 |
2013 |
|
rs11209026
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our study replicated the robust association between rs11209026 and AS in the French population.
|
23818276 |
2013 |
|
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 |
|
rs30187
|
|
T |
0.900 |
GeneticVariation |
GWASCAT |
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
|
23749187 |
2013 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
For the general group of AS, the carriers of minor alleles showed an increased risk for the disease (OR 1.92, 95% CI 1.17-3.13 for rs30187, OR 1.74, 95% CI 1.08-2.80 for rs27044).
|
23800305 |
2013 |
|
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 |
|
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 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, two cSNPs (rs27044 and rs30187) strongly associated with HLA-B27 positivity in AS patients.
|
22632381 |
2012 |