|
rs7574865
|
|
|
0.870 |
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 |
|
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
We found a significant association between SSc and STAT rs7574865 (TT vs. GG: OR 0.44, 95% CI 0.36-0.54; TT vs. TG + GG: OR 0.48, 95% CI 0.39-0.59; TT + TG vs. GG: OR 0.74, 95% CI 0.66-0.83; T vs. G: OR 0.72, 95% CI 0.66-0.79), but there were no other statistically significant associations with other gene polymorphisms.
|
22173230 |
2012 |
|
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc).
|
23755762 |
2013 |
|
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
The association of the rs7574865 T allele with lcSSc was confirmed in all the replication cohorts with different effect sizes (OR ranging between 1.15 and 1.86), as well as the lack of association of STAT4 with dcSSc.
|
19286670 |
2009 |
|
rs7574865
|
|
|
0.870 |
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 |
|
rs7574865
|
|
|
0.870 |
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 |
|
rs7574865
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.
|
21149496 |
2011 |
|
rs2056626
|
|
|
0.830 |
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 |
|
rs2056626
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study.
|
22440820 |
2012 |
|
rs2056626
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22-23, rs2056626, P = 2.09 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis).
|
20383147 |
2010 |
|
rs2736340
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Stratification analysis by diseases suggested FAM167A-BLK rs2736340 had a positive association with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and Kawasaki disease, primary Sjogren's syndrome (pSS), primary antiphosholipid syndrome (APS), and myositis.
|
27105348 |
2016 |
|
rs2736340
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The "T" allele at rs2736340 variant was associated with SSc in both the U.S. and Spanish case-control series (P = 6.8 x 10(-5), OR 1.27, 95% CI 1.1-1.4).
|
19796918 |
2010 |
|
rs10488631
|
|
|
0.810 |
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 |
|
rs13239597
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Through a series of bioinformatics and functional analyses, we prioritized a potential independent functional single-nucleotide polymorphism (rs13239597) within TNPO3 promoter region, residing in a putative enhancer element and validated that IRF5 is the distal target gene (∼118 kb) of rs13239597, which is a key regulator involved in pathogenic autoantibody dysregulation, increasing risk of both SLE and SSc.
|
31421124 |
2020 |
|
rs2476601
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We then conducted a meta-analysis of the most recent studies of SSc in order to verify the association or lack of association between the PTPN22 1858C>T variant and SSc.</span>
|
18576360 |
2008 |
|
rs2476601
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Lack of association of the PTPN22 gene polymorphism R620W with systemic sclerosis.
|
16870103 |
2006 |
|
rs2476601
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The meta-analysis revealed evidence of association of the rs2476601 T allele with SSc susceptibility (p(FDRcorrected)=0.03 pooled, OR 1.15, 95% CI 1.03 to 1.28).
|
21131644 |
2011 |
|
rs2476601
|
|
|
0.760 |
GeneticVariation |
BEFREE |
This meta-analysis confirms that the PTPN22 C1858T polymorphism is associated with SSc susceptibility and ACA status in Europeans, and that its prevalence is dependent on ethnicity.
|
21688149 |
2012 |
|
rs2476601
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The association of subsets of SSc with the PTPN22 R620W polymorphism further strengthens the classification of SSc within the spectrum of autoimmune diseases and strongly suggests the involvement of common susceptibility genes and similarly disordered immunoregulatory pathways.
|
17133608 |
2006 |
|
rs2476601
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus but not for systemic sclerosis in the Colombian population.
|
22704547 |
2012 |
|
rs3117230
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)).
|
19950302 |
2009 |
|
rs3128930
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)).
|
19950302 |
2009 |
|
rs3128965
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)).
|
19950302 |
2009 |
|
rs35677470
|
|
|
0.710 |
GeneticVariation |
BEFREE |
This study identified a likely functional variant influencing scleroderma susceptibility at the DNASE1L3 locus; a missense polymorphism rs35677470 in DNASE1L3, with an odds ratio of 2.35 (P = 2.3 × 10(-10)) in anti-centromere antibody (ACA) positive cases.
|
25332064 |
2014 |
|
rs3894194
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our data further establish the link between macrophages and SSc, and suggest that the contribution of the rs3894194 risk variant to SSc susceptibility can be mediated by <i>GSDMA</i> expression in macrophages.
|
29348297 |
2018 |