|
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 |
|
CATARACT, ANTERIOR POLAR
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results indicated that IFR5 variants rs77571059 and rs2004640 and haplotype GTAA were associated with the susceptibility to CAP and rs77571059 was related to the severity of the disease, suggesting that IFR5 variants may contribute to the pathogenesis of CAP and may serve as prognostic markers of CAP susceptibility and outcome.
|
30176312 |
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 |
|
Hypertensive disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The haplotype carrying rs10954213A and rs2280714A (haplotype 2) was significantly associated with susceptibility to sarcoidosis (OR = 2.00, 95% CI = 1.24-3.24, P = 0.004, corrected P = 0.01). rs729302 and rs2004640 were not associated with susceptibility to sarcoidosis, whereas carriage of rs2004640G was protective against pulmonary hypertension (OR = 0.017, 95% CI = 0.002-0.15, P < 0.001, corrected P < 0.001).
|
23288367 |
2013 |
|
Sarcoidosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The haplotype carrying rs10954213A and rs2280714A (haplotype 2) was significantly associated with susceptibility to sarcoidosis (OR = 2.00, 95% CI = 1.24-3.24, P = 0.004, corrected P = 0.01). rs729302 and rs2004640 were not associated with susceptibility to sarcoidosis, whereas carriage of rs2004640G was protective against pulmonary hypertension (OR = 0.017, 95% CI = 0.002-0.15, P < 0.001, corrected P < 0.001).
|
23288367 |
2013 |
|
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 |
|
Polyarthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found a novel association between interferon regulatory factor 5 (IRF5), rs2004640 and JIA, in particular with the polyarthritis RF-negative patients [odds ratio (OR) = 1.60; 95% confidence interval (CI) 1.17, 2.20; P = 0.003].
|
22179739 |
2012 |
|
Lymphohistiocytosis, Hemophagocytic
|
|
0.010 |
GeneticVariation
|
BEFREE |
The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T) was associated with secondary HLH susceptibility (p < 0.01).
|
21898142 |
2011 |
|
Macrophage Activation Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
There was a significant association of the rs2004640 T allele with MAS susceptibility (OR 4.11; 95% CI 1.84, 9.16; p = 0.001).
|
21239750 |
2011 |
|
Lupus Nephritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results suggested that the rs2004640 T allele was associated with susceptibility to lupus nephritis and that the IRF5 polymorphism analyzed did not seem to be implicated in the pathology and clinical manifestation of lupus nephritis in the Chinese population.
|
21040166 |
2010 |
|
Giant Cell Arteritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results showed no association of IRF5 rs2004640 and CGGGG insertion/deletion polymorphisms in the susceptibility to and clinical expression of GCA.
|
19918036 |
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 |
|
Primary Sjögren's syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study is the first to demonstrate a significant association between primary SS and the IRF5 rs2004640 T allele.
|
18050197 |
2007 |
|
Juvenile arthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The frequency of the IRF5 rs2004640 T allele was significantly higher (69 vs 45%, P value = 0.0013) in JIA group as compared to control.
|
29423720 |
2018 |
|
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 |
|
Nephritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The presence of the rs2004640 T allele increases the risk of nephritis development in Egyptian children with SLE.
|
28059021 |
2017 |
|
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 |
|
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 |
|
Juvenile arthritis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The SNP rs2004640 was significantly associated with SLE, MS, and SSc, but not with JIA [odds ratio (OR)=1.06, 95% confidence interval (CI)=0.90-1.24, P=0.48] or RA (OR=1.03, 95%CI=0.95-1.11, P=0.44).
|
25036352 |
2014 |
|
Pulmonary Fibrosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.
|
19116937 |
2009 |
|
Autoimmune Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results in an independent case-control sample confirm the robust association of the IRF5/rs2004640 T allele with SLE risk, and further support the relevance of the type I interferon system in the pathogenesis of SLE and autoimmunity.
|
17166181 |
2007 |