|
rs2004640
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The IRF5 rs2004640 GT substitution is associated with susceptibility to SSc.
|
19116937 |
2009 |
|
rs2004640
|
|
|
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 |
|
rs2004640
|
|
|
0.090 |
GeneticVariation |
BEFREE |
However, the Chinese dcSSc did not show any association with the rs2004640.
|
25572744 |
2015 |
|
rs2004640
|
|
|
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 |
|
rs2004640
|
|
|
0.090 |
GeneticVariation |
BEFREE |
However, the association of rs2004640 with SSc was not independent of rs4728142 (conditioned P = 0.598).
|
23372721 |
2013 |
|
rs2004640
|
|
|
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 |
|
rs2004640
|
|
|
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 |
|
rs2004640
|
|
|
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 |
|
rs2004640
|
|
|
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 |
|
rs2004640
|
|
|
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 |
|
rs1799983
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The aim of our study was to investigate the effects of ACE insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS) Glu298Asp (G894-->T) and T-786-->C polymorphisms in patients with systemic sclerosis.
|
12015245 |
2002 |
|
rs1799983
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Hemorheologic profile in systemic sclerosis: role of NOS3 -786T > C and 894G >T polymorphisms in modulating both the hemorheologic parameters and the susceptibility to the disease.
|
16802365 |
2006 |
|
rs1799983
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our results indicate that eNOS (G894T) and p22(phox) (C242T) polymorphisms do not influence susceptibility to and the course of systemic sclerosis.
|
15530459 |
2004 |
|
rs1799983
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We investigated haemorheological variables in patients with idiopathic sudden sensorineural hearing loss (ISSHL), retinal vein occlusion (RVO) and systemic sclerosis (SSc), as possible models of microvascular damage, and their relationship with eNOS gene T-786C, G894T and 4a/4b polymorphisms.
|
17634663 |
2007 |
|
rs1799983
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Three potential eNOS gene polymorphisms [tandem 27-bp repeats (VNTR) in intron 4, T786C in promoter region and G894T in exon 7] were investigated to affect the susceptibility to and the clinical course of SSc.
|
20406610 |
2010 |
|
rs763361
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Furthermore, association analysis of the genotypes with clinical manifestations of the disease revealed that rs763361 variants were associated with the forced vital capacity (FVC) in SSc patients.
|
29338153 |
2017 |
|
rs763361
|
|
|
0.040 |
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 |
|
rs763361
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This meta-analysis demonstrates the CD226 rs763361 polymorphism confers susceptibility to autoimmune disease in Europeans, South Americans and Asians, and in particular, shows that the CD226 rs763361 polymorphism is associated with SLE, SSc and T1D.
|
22941566 |
2012 |
|
rs763361
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The CD226 rs763361 T allele was found to be associated with SSc in both the discovery and the replication samples, showing the following results in the combined populations: odds ratio (OR) 1.22 (95% confidence interval [95% CI] 1.10-1.34), P = 5.69 × 10(-5) .
|
21162102 |
2011 |
|
rs1059702
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In both the discovery and replication sets, the rs1059702 TT genotype was found to be associated with specific SSc subsets, highlighting a potential contribution to disease severity.
|
21898345 |
2011 |
|
rs1059702
|
|
|
0.030 |
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 |
|
rs1059702
|
|
|
0.030 |
GeneticVariation |
BEFREE |
IRAK1 rs1059702 and MECP2 rs17435 were associated specifically with diffuse cutaneous SSc (PFDR=4.12×10(-3), OR=1.27, 95% CI 1.09 to 1.47, and PFDR=5.26×10(-4), OR=1.30, 95% CI 1.14 to 1.48, respectively), but conditional logistic regression analysis showed that the association of IRAK1 rs1059702 with this subtype was explained by that of MECP2 rs17435.
|
23444193 |
2013 |
|
rs10516487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.
|
19877059 |
2009 |
|
rs10516487
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A significant association of the rs10516487 G and rs17266594 T alleles with SSc susceptibility was observed (pooled OR=1.12, 95% CI 1.03 to 1.22; p=0.01 and pooled OR=1.14, 95% CI 1.05 to 1.25; p=0.003, respectively), whereas the rs3733197 genetic variant showed no statistically significant deviation.
|
19815934 |
2010 |
|
rs12039904
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Known SLE and SSc TNFSF4 susceptibility variants (rs2205960, rs1234317, rs12039904, rs10912580, and rs844648) were genotyped in 1031 patients with SSc and 1014 controls of French white ancestry.
|
22422496 |
2012 |