Systemic Scleroderma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Taken together, our results uncovered a mechanistic insight of a noncoding functional variant acting as an allele-specific distal enhancer to directly modulate IRF5 expression, which might obligate in understanding of complex genetic architectures of SLE and SSc pathogenesis.
|
31421124 |
2020 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
|
30573655 |
2019 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
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 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
For IRF5 polymorphism, the T allele was shown to be strongly associated with increased SSc risk (OR = 1.27, 95% CI = 1.17-1.39, P < 0.00001).
|
26712637 |
2016 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The present study aimed to examine whether the SSc-associated SNP rs2004640 of IRF5 gene confer susceptibility to SSc and clinical features of SSc in a Han Chinese population.
|
25572744 |
2015 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis certified that IRF5 polymorphisms confer susceptibility to SLE, MS, and SSc.
|
25036352 |
2014 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A meta-analysis of the allele frequencies was performed to analyse the overall effect of these IRF5 genetic variants on SSc.
|
23372721 |
2013 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An SNP in the IRF5 promoter region (rs4728142), associated with lower IRF5 transcript levels, was predictive of longer survival and milder ILD in patients with SSc.
|
22440820 |
2012 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies in the systemic sclerosis (SSc), an autoimmune disease that clinically manifests with dermal and internal organ fibrosis and small vessel vasculopathy, have identified multiple susceptibility genes including HLA-class II, PTPN22, IRF5, and STAT4 which have also been associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE).
|
19796918 |
2010 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified an IRF5 risk haplotype "R" (p(adj) = 0.024, OR 1.23, 95% CI 1.07-1.40) and a mirrored protective haplotype "P" (p(adj) = 8.8 x 10(-3), OR 0.78, 95% CI 0.68-0.90) for SSc susceptibility.
|
20231204 |
2010 |
Systemic Scleroderma
|
0.500 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
20383147 |
2010 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We undertook the present study to determine whether IRF5 polymorphisms are also associated with a predisposition to SSc in Japanese.
|
19479858 |
2009 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.
|
19116937 |
2009 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.
|
19877059 |
2009 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The IRF5 rs2004640 GT substitution is associated with susceptibility to SSc.
|
19116937 |
2009 |
Systemic Scleroderma
|
0.500 |
GeneticVariation
|
disease |
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 |