Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs30187
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

dbSNP: rs30187
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

dbSNP: rs30187
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

dbSNP: rs10050860
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

dbSNP: rs17482078
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

dbSNP: rs10050860
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

dbSNP: rs17482078
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

dbSNP: rs2066844
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

dbSNP: rs2066845
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

dbSNP: rs2066844
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

dbSNP: rs2066845
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

dbSNP: rs5743836
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

dbSNP: rs1800629
rs1800629
TNF
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

dbSNP: rs2275913
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

dbSNP: rs763780
rs763780
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

dbSNP: rs6908425
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

dbSNP: rs7761118
rs7761118
0.010 GeneticVariation BEFREE Combined analysis identified an association close to genome-wide significance between rs7761118, an intronic SNP of MAPK14, and SpA (p=3.5×10<sup>-7</sup>). 27461236

2017

dbSNP: rs11209026
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

dbSNP: rs27044
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

dbSNP: rs1894399
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

dbSNP: rs2856836
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

dbSNP: rs3811058
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

dbSNP: rs774359492
rs774359492
0.010 GeneticVariation BEFREE Thirteen articles with 21 comparison studies (16 on FAS -670 A/G and 5 on -1,377 G/A polymorphisms) including systemic lupus erythematosus (SLE), four systemic sclerosis, four Sjogren's syndrome, three rheumatoid arthritis (RA), one juvenile idiopathic arthritis, and one spondyloarthropathy were available for the meta-analysis. 23053964

2012

dbSNP: rs3181357
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

dbSNP: rs61752717
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