rs2004640, IRF5

N. diseases: 26
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.790 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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.790 GeneticVariation BEFREE Interestingly, a protective effect of both IRF5 rs2004640 GG and IRF5 rs10954213 GG genotypes against the risk for CV events after adjusting the results for sex, age at RA diagnosis and traditional CV disease risk factors was observed (hazard ratio (HR) = 0.6, 95% confidence interval (CI) = 0.38 to 0.92, P = 0.02; and HR = 0.58, 95% CI = 0.36 to 0.95, P = 0.03, respectively). 25011482 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.790 GeneticVariation BEFREE The results suggest that the IRF5 rs2004640 polymorphism is associated with rheumatoid arthritis especially when the dominant genetic model is applied. 23801380 2013
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.790 GeneticVariation BEFREE This meta-analysis confirms that the IRF5 rs2004640, rs729302 and rs752637 polymorphisms are associated with RA susceptibility in different ethnic groups, especially in Europeans and Asians, but further study of this association is required in other ethnic groups. 23073787 2013
Rheumatoid Arthritis
CUI: C0003873
Disease: 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
Rheumatoid Arthritis
CUI: C0003873
Disease: 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
CUI: C0003873
Disease: 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
Rheumatoid Arthritis
CUI: C0003873
Disease: 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
CUI: C0003873
Disease: 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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.790 CausalMutation CLINVAR
Body Height
CUI: C0005890
Disease: Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
0.700 SusceptibilityMutation CLINVAR
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE The current study suggested that individuals carrying rs2004640 T allele correlated with a high risk of SLE, and the IRF5 rs2004640 polymorphism was associated with SLE susceptibility. 31347288 2019
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE 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. 31018759 2019
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: 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
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE The presence of the rs20</span>04640 T allele increases the risk of nephritis development in Egyptian children with SLE. 28059021 2017
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE Nevertheless, two haplotypes based on the 3 variants [exon6(in/de), rs10954213, rs2004640] of IRF5 (DAG and IAT) could define protective or susceptibility haplotype in SLE. 26294277 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE The novelty of this study is the association of the rs2004640 T-allele with increased anti-dsDNA antibody production and SLE in a younger age group. 24697591 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reported as conferring an increased risk of SLE, was significantly associated with MAS susceptibility in patients with systemic JIA (OR 4.61; 95% CI 1.73, 12.3; p < 0.001). 21239750 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE In a subgroup analysis by ethnicity, significantly increased SLE risk was associated with IRF5 rs2004640 T allele in populations of European, Asian and Latin American origin, and the rs10954213 A allele is significantly associated with SLE in European origin but not in Asian origin. 21834935 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: 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
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: 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
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: 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
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: 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
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: 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