|
Rheumatoid Arthritis
|
|
0.790 |
CausalMutation
|
CLINVAR |
|
|
|
|
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
A case-control association study was performed for rs2004640 as well as for rs10954213 and rs2280714, all of which were previously reported to be associated with SLE, in 281 SSc patients and 477 healthy controls.
|
19479858 |
2009 |
|
Rheumatoid Arthritis
|
|
0.790 |
GeneticVariation
|
BEFREE |
A combined analysis including all 3 independent cohorts from the previous study revealed an association of the rs2004640 with RA (pooled OR 1.21, 95% CI 1.07-1.38, pooled p = 0.0031 in dominant model).
|
18843785 |
2008 |
|
Autoimmune Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
A significant association was observed between the IRF5 markers (rs2004640, rs10954213) and susceptibility to SLE (p < 0.0001) and OP (p < 0.025).
|
24697591 |
2015 |
|
Lupus Erythematosus, Discoid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients.
|
30168487 |
2018 |
|
Lupus Vulgaris
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients.
|
30168487 |
2018 |
|
Lupus Erythematosus
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients.
|
30168487 |
2018 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients.
|
30168487 |
2018 |
|
Systemic Scleroderma
|
|
0.090 |
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 |
|
Pulmonary Fibrosis
|
|
0.020 |
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 |
|
Systemic Scleroderma
|
|
0.090 |
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 |
|
Pulmonary Fibrosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.
|
19116937 |
2009 |
|
Systemic Scleroderma
|
|
0.090 |
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 |
|
Macular Edema, Cystoid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients.
|
24116155 |
2013 |
|
Macular retinal edema
|
|
0.010 |
GeneticVariation
|
BEFREE |
Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients.
|
24116155 |
2013 |
|
Nephritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Data analysis was conducted in three groups: patients with high/low anti-dsDNA antibody titre, lupus nephritis/non-nephritis and disease onset age ≤28 years/>28 years. cDNA samples with defined rs2004640 genotypes were amplified using specific primers and transcripts associated with each of the exon1 variants were detected on polyacrylamide-gel.
|
24697591 |
2015 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Haplotypes carrying the T alleles of rs2004640 and rs2280714 and the A allele of rs10954213 are over-transmitted in SLE families.
|
17189288 |
2007 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we convincingly replicate association of the IFN regulatory factor 5 (IRF5) rs2004640 T allele with SLE in four independent case-control cohorts (P = 4.4 x 10(-16)) and by family-based transmission disequilibrium test analysis (P = 0.0006).
|
16642019 |
2006 |
|
Systemic Scleroderma
|
|
0.090 |
GeneticVariation
|
BEFREE |
However, the association of rs2004640 with SSc was not independent of rs4728142 (conditioned P = 0.598).
|
23372721 |
2013 |
|
Systemic Scleroderma
|
|
0.090 |
GeneticVariation
|
BEFREE |
However, the Chinese dcSSc did not show any association with the rs2004640.
|
25572744 |
2015 |
|
Systemic Scleroderma
|
|
0.090 |
GeneticVariation
|
BEFREE |
Identification of an association between IRF5 rs2004640 and systemic sclerosis (SSc) has highlighted a key role for type 1 interferon (IFN).
|
20231204 |
2010 |
|
Hamman-Rich syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a multivariate analysis model including the diffuse cutaneous subtype of SSc and positivity for anti-topoisomerase I antibodies, the IRF5 rs2004640 TT genotype remained associated with fibrosing alveolitis (P=0.029, OR 1.92, 95% CI 1.07-3.44).
|
19116937 |
2009 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a multivariate analysis model including the diffuse cutaneous subtype of SSc and positivity for anti-topoisomerase I antibodies, the IRF5 rs2004640 TT genotype remained associated with fibrosing alveolitis (P=0.029, OR 1.92, 95% CI 1.07-3.44).
|
19116937 |
2009 |
|
Alveolitis, Fibrosing
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a multivariate analysis model including the diffuse cutaneous subtype of SSc and positivity for anti-topoisomerase I antibodies, the IRF5 rs2004640 TT genotype remained associated with fibrosing alveolitis (P=0.029, OR 1.92, 95% CI 1.07-3.44).
|
19116937 |
2009 |