rs2004640, IRF5

N. diseases: 26
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Systemic Scleroderma
CUI: C0036421
Disease: 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
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.090 GeneticVariation BEFREE The aim of this study was to investigate the association of signal transducer and activator of transcription 4 (STAT4) rs7574865 and interferon regulatory factor 5 (IRF5) rs2004640 polymorphisms with risk of SSc. 26712637 2016
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.090 GeneticVariation BEFREE The results demonstrated that STAT4 rs7574865 and IRF5 rs2004640G/T substitution are associated with a susceptibility to SSc, and they may serve as the SSc genetic susceptibility factor. 26712637 2016
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.090 GeneticVariation BEFREE However, the Chinese dcSSc did not show any association with the rs2004640. 25572744 2015
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.090 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
Systemic Scleroderma
CUI: C0036421
Disease: 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
CUI: C0036421
Disease: 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
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.090 GeneticVariation BEFREE The IRF5 rs2004640 GT substitution is associated with susceptibility to SSc. 19116937 2009
Systemic Scleroderma
CUI: C0036421
Disease: 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
Systemic Scleroderma
CUI: C0036421
Disease: 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