|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
199 multiplex families with AS with four non-synonymous single nucleotide polymorphisms (SNPs), three in the endoplasmic reticulum aminopeptidase 1 (ERAP1) gene (rs27044, rs10050860 and rs30187) and one in the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene (rs2549782), were genotyped and family-based association analyses were performed.
|
19433412 |
2010 |
|
rs61752717
|
|
|
0.750 |
GeneticVariation |
BEFREE |
M694V was the only variant that was significantly more common in the AS group than in the combined or individual control groups (P = 0.026 for AS patients versus healthy controls, P = 0.046 for AS patients versus RA patient controls, and P = 0.008 for AS patients versus healthy and RA patient control groups).
|
20533539 |
2010 |
|
rs14170
|
|
|
0.010 |
GeneticVariation |
BEFREE |
rs14170 and rs2123111 inUSP34 and rs1729674 in C2orf74 may be associated with AS susceptibility in Han Chinese population.
|
28493913 |
2017 |
|
rs2066845
|
|
|
0.730 |
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 |
|
rs17095830
|
|
G |
0.810 |
GeneticVariation |
GWASCAT |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs17095830
|
|
G |
0.810 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs4552569
|
|
C |
0.810 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs4552569
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs13210693
|
|
A |
0.800 |
GeneticVariation |
GWASCAT |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs13210693
|
|
A |
0.800 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs2523454
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs2523522
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs2596464
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs4418214
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs9265882
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs9295986
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs9468898
|
|
|
0.700 |
GeneticVariation |
GWASDB |
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
|
22138694 |
2011 |
|
rs433130
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel association was observed between AS and three SNPs in the ANTXR2 gene (rs4690127, rs6823031, and rs4333130; P = 0.004, 0.011, and 0.013, respectively), confirming the association between rs433130 and AS in the Han Chinese.
|
26728147 |
2016 |
|
rs1055234
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel significant association was detected between SNP rs1055234 and AS susceptibility.
|
22294640 |
2012 |
|
rs4077515
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A recent genome-wide association screen (GWAS) identified associations (P approximately 0.005) with the non-synonymous single-nucleotide polymorphisms (nsSNPs), rs4077515 and rs3812571, in caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) on chromosome 9q that had previously been linked to AS.
|
20463747 |
2010 |
|
rs2242944
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A recent genome-wide association study has identified 2 single-nucleotide polymorphisms (SNP) associated with ankylosing spondylitis (AS), rs10865331 (2p15) and rs2242944 (21q22).
|
20810504 |
2010 |
|
rs61752717
|
|
|
0.750 |
GeneticVariation |
BEFREE |
A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% , p=0.060).
|
22960328 |
2012 |
|
rs281864614
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A single amino acid difference (Asp116His), having a key role in a pathogenesis pathway, distinguishes HLA-B*27:05 and HLA-B*27:09 sub-types as associated and non-associated with ankylosing spondylitis, respectively.
|
27506766 |
2016 |
|
rs27044
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A specific ERAP1 haplotype, rs27044/10050860/30187-CCT, was strongly associated with increased risk of AS in all 3 case-control cohorts (pooled odds ratio [OR] 1.81, 95% confidence interval [95% CI] 1.46-2.24; P=7x10(-8)), while a second specific ERAP1 haplotype, rs30187/26618/26653-CTG, reduced the disease risk (pooled OR 0.77, 95% CI 0.67-0.88; P=9x10(-5)).
|
19404951 |
2009 |
|
rs30187
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A specific ERAP1 haplotype, rs27044/10050860/30187-CCT, was strongly associated with increased risk of AS in all 3 case-control cohorts (pooled odds ratio [OR] 1.81, 95% confidence interval [95% CI] 1.46-2.24; P=7x10(-8)), while a second specific ERAP1 haplotype, rs30187/26618/26653-CTG, reduced the disease risk (pooled OR 0.77, 95% CI 0.67-0.88; P=9x10(-5)).
|
19404951 |
2009 |