|
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 |
|
rs10488631
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study.
|
30247649 |
2019 |
|
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 |
|
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 |
|
rs10488631
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
|
21750679 |
2011 |
|
rs10488631
|
|
C |
0.810 |
GeneticVariation |
GWASDB |
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
|
21750679 |
2011 |
|
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 |
|
rs10488631
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
20383147 |
2010 |
|
rs10488631
|
|
C |
0.810 |
GeneticVariation |
GWASDB |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
20383147 |
2010 |
|
rs13238352
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
|
rs36073657
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
|
31672989 |
2019 |
|
rs12531711
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.
|
29293537 |
2018 |
|
rs12534421
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.
|
29293537 |
2018 |
|
rs62478615
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.
|
24387989 |
2014 |
|
rs2280714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Conditional analysis revealed that rs2280714 could account for most of the association of these SNPs, while an additional contribution of rs2004640 was also suggested for dcSSc.
|
19479858 |
2009 |