|
rs30187
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Both single nucleotide polymorphisms (SNPs) were associated with the risk of spondyloarthritis [odds ratio (OR) 1.80, 95% confidence interval (CI) 1.24-2.62, P = 0.001 for rs30187, OR 1.58, 95% CI 1.07-2.34, P = 0.02 for rs27044].
|
23800305 |
2013 |
|
rs30187
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Consistent with previous studies conducted in AS, rs30187 was the most significantly associated SNP with SpA (p=0.008 in the French, and p=6.46×10(-4) in the Belgian cohorts).
|
22896742 |
2013 |
|
rs30187
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The combination of rs17482078, rs10050860, and rs30187 results in the construction of 3 major haplotypes that are associated with SpA (the "protective" haplotype T/T/C, the "neutral" haplotype C/C/C, and the "susceptibility" haplotype C/C/T).
|
25740711 |
2015 |
|
rs10050860
|
|
|
0.020 |
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 |
|
rs10050860
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The combination of rs17482078, rs10050860, and rs30187 results in the construction of 3 major haplotypes that are associated with SpA (the "protective" haplotype T/T/C, the "neutral" haplotype C/C/C, and the "susceptibility" haplotype C/C/T).
|
25740711 |
2015 |
|
rs17482078
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The combination of rs17482078, rs10050860, and rs30187 results in the construction of 3 major haplotypes that are associated with SpA (the "protective" haplotype T/T/C, the "neutral" haplotype C/C/C, and the "susceptibility" haplotype C/C/T).
|
25740711 |
2015 |
|
rs17482078
|
|
|
0.020 |
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 |
|
rs2066844
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls.
|
12115195 |
2002 |
|
rs2066844
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The carrier frequency of R702W, G908R, or 1007fs variants in the spondyloarthropathy populations (20%) was similar to the control population (17%), but increased to 38% in the spondyloarthropathy subgroup with chronic gut inflammation.
|
15539413 |
2005 |
|
rs2066845
|
|
|
0.020 |
GeneticVariation |
BEFREE |
An association was identified between Gly(908)Arg and UC spondylarthritis (P = 0.016, odds ratio [OR] 4.6, 95% confidence interval [95% CI] 1.3-16), and a nonsignificant trend with a similar magnitude was observed in association with CD spondylarthritis (P = 0.08, OR 3.9, 95% CI 0.8-18).
|
12115195 |
2002 |
|
rs2066845
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The carrier frequency of R702W, G908R, or 1007fs variants in the spondyloarthropathy populations (20%) was similar to the control population (17%), but increased to 38% in the spondyloarthropathy subgroup with chronic gut inflammation.
|
15539413 |
2005 |
|
rs11209026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant association between rs11209026 and SpA overall was identified only in the familial data set (odds ratio 0.57, P=0.028).
|
23818276 |
2013 |
|
rs1800470
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have shown that a T(869)-->C polymorphism of the transforming growth factor-beta1 (TGF-beta1) gene, which results in a Leu-->Pro substitution at amino acid 10, is associated with bone mineral density in Japanese adolescents and postmenopausal women, with genetic susceptibility to osteoporosis or spinal osteoarthritis, and with the outcome of treatment for osteoporosis with active vitamin D. I here review our recent studies, which have provided insight into the function of TGF-beta1 as well as into the role of genetic factors in the development of osteoporosis and osteoarthritis.
|
10996011 |
2000 |
|
rs1800629
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While <i>TNF</i>-308 (rs1800629) AA/GA, <i>IL17A</i> (rs2275913) AA/GA, and <i>IL17F</i> (rs763780) CC/TC genotype frequencies were associated, in the dominance inheritance model, with SpA and AS, regardless of gender, the presence of <i>HLA-B27</i>, <i>TNF</i>-238 (rs361525) GA/AA, <i>IL17A</i> (rs2275913) AA/GA, and <i>IL17F</i> (rs763780) genotypes was associated with PsA.
|
29849482 |
2018 |
|
rs1894399
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The case-control study revealed an association between another IL1A variant (rs1894399) and AS (p=0.035), and between IL1F10.3 (rs3811058) and spondyloarthritis (p=0.041).
|
22312160 |
2012 |
|
rs2066842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Pro(268)Ser variant was inversely associated with UC spondylarthritis (P = 0.003, OR 0.55, 95% CI 0.37-0.82), but not with CD spondylarthritis.
|
12115195 |
2002 |
|
rs2275913
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While <i>TNF</i>-308 (rs1800629) AA/GA, <i>IL17A</i> (rs2275913) AA/GA, and <i>IL17F</i> (rs763780) CC/TC genotype frequencies were associated, in the dominance inheritance model, with SpA and AS, regardless of gender, the presence of <i>HLA-B27</i>, <i>TNF</i>-238 (rs361525) GA/AA, <i>IL17A</i> (rs2275913) AA/GA, and <i>IL17F</i> (rs763780) genotypes was associated with PsA.
|
29849482 |
2018 |
|
rs27044
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated two nonsynonymous variants (rs30187 and rs27044) of ERAP1 gene in HLA-B27 positive individuals (150 spondyloarthritis and 108 controls) and in general ankylosing spondylitis (AS) patients (n = 137) vs random controls (n = 139).
|
23800305 |
2013 |
|
rs2856836
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP rs2856836 in IL1A was significantly associated with spondyloarthritis (p=0.009) and AS (p=0.010) in the family study.
|
22312160 |
2012 |
|
rs3181357
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rare intronic single-nucleotide polymorphism (SNP) rs3181357, located in TNFSF8, was significantly associated with SpA in the French and the replication cohorts (odds ratio [OR] 2.03, P = 0.009 and OR 2.26, P = 0.0014, respectively) and in the pooled analysis (OR 2.14, P = 0.0001).
|
21480186 |
2011 |
|
rs3811058
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The case-control study revealed an association between another IL1A variant (rs1894399) and AS (p=0.035), and between IL1F10.3 (rs3811058) and spondyloarthritis (p=0.041).
|
22312160 |
2012 |
|
rs41494349
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To determine the association of single-nucleotide polymorphism (SNP) causing an amino-acid change (Q89R) in the low-density lipoprotein receptor-related protein 5 (LRP5) coding region with spinal osteoarthritis.
|
17202888 |
2007 |
|
rs5743836
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphism <i>rs5743708</i> for the <i>TLR2</i> and the <i>rs187084_rs5743836 TLR9</i> haplotypes appear to be involved in the development of clinical forms of SpA and can be a possible therapeutic target for the spondyloarthritis.
|
31781672 |
2019 |
|
rs61752717
|
|
|
0.010 |
GeneticVariation |
BEFREE |
HLA-B27 positivity and/or M694V mutation may play a role in the development of sacroiliitis and the severity of seronegative spondyloarthropathy.
|
18795391 |
2009 |
|
rs6908425
|
|
|
0.010 |
GeneticVariation |
BEFREE |
rs6908425 T>C in CDKAL1 was significantly different between SAPHO cases and healthy controls (odds ratios = 2.056, 95% confidence intervals: 1.211-3.490; p = 0.007), but no SNPs were associated with the risk of developing RA, AS, or SPA (p > 0.05).
|
27936930 |
2017 |