Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
0.100 GeneticVariation BEFREE IRF5 rs2004640-T allele, the new genetic factor for systemic lupus erythematosus, is not associated with rheumatoid arthritis. 17158136

2007

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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

dbSNP: rs2004640
rs2004640
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