rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not.
|
28434122 |
2017 |
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We found a significant association between SSc and STAT rs7574865 (TT vs. GG: OR 0.44, 95% CI 0.36-0.54; TT vs. TG + GG: OR 0.48, 95% CI 0.39-0.59; TT + TG vs. GG: OR 0.74, 95% CI 0.66-0.83; T vs. G: OR 0.72, 95% CI 0.66-0.79), but there were no other statistically significant associations with other gene polymorphisms.
|
22173230 |
2012 |
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc).
|
23755762 |
2013 |
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The association of the rs7574865 T allele with lcSSc was confirmed in all the replication cohorts with different effect sizes (OR ranging between 1.15 and 1.86), as well as the lack of association of STAT4 with dcSSc.
|
19286670 |
2009 |
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
An additive effect of the STAT4 rs7574865 T allele and the IRF5 rs2004640 T allele was observed, resulting in a multiple increased 1.28-fold risk of SSc.
|
19644887 |
2009 |
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The results demonstrated that STAT4 rs7574865 and IRF5 rs2004640G/T substitution are associated with a susceptibility to SSc, and they may serve as the SSc genetic susceptibility factor.
|
26712637 |
2016 |
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.
|
21149496 |
2011 |
rs2056626
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not.
|
28434122 |
2017 |
rs2056626
|
|
|
0.830 |
GeneticVariation |
GWASDB |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
20383147 |
2010 |
rs2056626
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.
|
22440820 |
2012 |
rs2056626
|
|
|
0.830 |
GeneticVariation |
GWASCAT |
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
|
31672989 |
2019 |
rs2056626
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22-23, rs2056626, P = 2.09 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis).
|
20383147 |
2010 |
rs2056626
|
|
|
0.830 |
GeneticVariation |
GWASCAT |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
20383147 |
2010 |
rs2736340
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Stratification analysis by diseases suggested FAM167A-BLK rs2736340 had a positive association with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and Kawasaki disease, primary Sjogren's syndrome (pSS), primary antiphosholipid syndrome (APS), and myositis.
|
27105348 |
2016 |
rs2736340
|
|
|
0.820 |
GeneticVariation |
GWASCAT |
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
|
23740937 |
2013 |
rs2736340
|
|
|
0.820 |
GeneticVariation |
GWASDB |
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
|
23740937 |
2013 |
rs2736340
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The "T" allele at rs2736340 variant was associated with SSc in both the U.S. and Spanish case-control series (P = 6.8 x 10(-5), OR 1.27, 95% CI 1.1-1.4).
|
19796918 |
2010 |
rs10488631
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not.
|
28434122 |
2017 |
rs10488631
|
|
|
0.810 |
GeneticVariation |
GWASDB |
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
|
21779181 |
2011 |
rs10488631
|
|
|
0.810 |
GeneticVariation |
GWASCAT |
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
|
21779181 |
2011 |
rs13239597
|
|
|
0.810 |
GeneticVariation |
GWASDB |
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
|
23740937 |
2013 |
rs13239597
|
|
|
0.810 |
GeneticVariation |
GWASCAT |
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
|
23740937 |
2013 |
rs13239597
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Through a series of bioinformatics and functional analyses, we prioritized a potential independent functional single-nucleotide polymorphism (rs13239597) within TNPO3 promoter region, residing in a putative enhancer element and validated that IRF5 is the distal target gene (∼118 kb) of rs13239597, which is a key regulator involved in pathogenic autoantibody dysregulation, increasing risk of both SLE and SSc.
|
31421124 |
2020 |
rs10498070
|
|
|
0.800 |
GeneticVariation |
GWASDB |
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
|
23740937 |
2013 |
rs10498070
|
|
|
0.800 |
GeneticVariation |
GWASCAT |
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
|
23740937 |
2013 |