|
Rheumatoid Arthritis
|
|
0.790 |
CausalMutation
|
CLINVAR |
|
|
|
|
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
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 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the 3'-untranslated region) have been shown to exert functional modifications affecting IRF5 messenger RNA splicing and expression, and have been associated with genetic predisposition to systemic lupus erythematosus (SLE).
|
17133578 |
2006 |
|
Rheumatoid Arthritis
|
|
0.790 |
GeneticVariation
|
BEFREE |
Our results exclude the IRF5 rs2004640-T allele as a major genetic factor for RA in this French Caucasian population.
|
17158136 |
2007 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis.
|
17158136 |
2007 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
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 |
|
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 |
|
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 |
In combined analysis, including all seven independent cohorts from the three studies so far, robust and consistent associations of the rs2004640 T allele with SLE were observed.
|
17389033 |
2007 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine whether specific isoforms of IRF5 are transcribed in patients with systemic lupus erythematosus (SLE) who have risk genotypes in the exon 1B donor splice site at single-nucleotide polymorphism (SNP) no. rs2004640.
|
17393452 |
2007 |
|
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 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
The CGGGG indel explains the association signal from multiple SNPs in the IRF5 gene, including rs2004640, rs10954213 and rs729302 previously considered to be causal variants in SLE.
|
18063667 |
2008 |
|
Rheumatoid Arthritis
|
|
0.790 |
GeneticVariation
|
BEFREE |
Our findings together with those from previous studies, in a total of 4,620 RA patients and 3,741 controls, showed a significant association of the rs2004640 IRF5 SNP in RA patients as a whole (odds ratio [OR] 0.88, 95% confidence interval [95% CI] 0.83-0.94; P = 6.5 x 10(-5) versus controls).
|
18438842 |
2008 |
|
Rheumatoid Arthritis
|
|
0.790 |
GeneticVariation
|
BEFREE |
Our results indicate that the TT genotype of the IRF5 (rs2004640) dimorphism is associated with RA in a Tunisian population.
|
18752149 |
2008 |
|
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 |
|
Lupus Erythematosus, Systemic
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, this meta-analysis confirms that the IRF5 rs2004640 polymorphism is associated with SLE susceptibility in different ethnic groups, and that its prevalence is ethnicity dependent.
|
19043711 |
2009 |
|
Systemic Scleroderma
|
|
0.090 |
GeneticVariation
|
BEFREE |
The IRF5 rs2004640 GT substitution is associated with susceptibility to SSc.
|
19116937 |
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 |
|
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 |
|
Rheumatoid Arthritis
|
|
0.790 |
GeneticVariation
|
BEFREE |
Odds ratios (OR) were employed to evaluate the risk of RA according to the 4 single-nucleotide polymorphisms (SNP) in IRF5 (rs729302, rs2004640, rs752637, and rs2280714) and data were analyzed in respect to association between alleles.
|
19228650 |
2009 |
|
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 |
|
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 |