|
rs3804100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A weak correlation was found between two SNPs (rs3804100 and rs5743705) of the TLR2 gene with PSS.
|
31465768 |
2019 |
|
rs5743705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A weak correlation was found between two SNPs (rs3804100 and rs5743705) of the TLR2 gene with PSS.
|
31465768 |
2019 |
|
rs5844572
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is suggested that MIF participates in the amplification of the proinflammatory process in SSc; moreover, the promoter polymorphisms - 794 CATT<sub>5-8</sub> (rs5844572) and - 173G>C (rs755622) in the MIF gene have been associated with an increase in MIF serum levels in several autoimmune diseases.
|
30747392 |
2019 |
|
rs6672420
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A higher methylation status of the <i>RUNX3</i> gene, which is associated with polymorphism rs6672420, correlates with lower <i>RUNX3</i> expression and SSc susceptibility.
|
31126957 |
2019 |
|
rs755622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is suggested that MIF participates in the amplification of the proinflammatory process in SSc; moreover, the promoter polymorphisms - 794 CATT<sub>5-8</sub> (rs5844572) and - 173G>C (rs755622) in the MIF gene have been associated with an increase in MIF serum levels in several autoimmune diseases.
|
30747392 |
2019 |
|
rs17561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We did not see evidence regarding a positive role for rs1800587 or rs17561 in the risk of other autoimmune diseases, such as systemic sclerosis or rheumatoid arthritis.
|
29879187 |
2018 |
|
rs2294020
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study provides evidence of the association of rs2294020 with SSc evolution in female patients, modulating the time of progression from the diagnosis of early SSc to the diagnosis of definite SSc, while no effect on SSc susceptibility per se was found. rs2294020 may be considered a disease-modifying gene-variant rather than a disease-susceptibility SNP in SSc.
|
29030005 |
2018 |
|
rs2910164
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results also suggested that miR-146a rs2910164 CC genotype may be predisposing factor for development lung fibrosis and more progressive form of SSc.
|
30308218 |
2018 |
|
rs3027898
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results showed that there was no association between IRAK1 rs3027898 and the risk of SSc in women.
|
30308218 |
2018 |
|
rs3131917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meta-analysis of 2 independent scleroderma cohorts revealed an association of rs3131917 with scleroderma (P = 0.029).
|
29342503 |
2018 |
|
rs374039502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Similarly, combined analysis of the different sets evidenced a lack of association of the rs374039502 variant with GCA (P = 0.421; OR (95% CI) = 0.92 (0.75-1.13)) and SSc (P = 0.500; OR (95% CI) = 1.05 (0.91-1.22)).
|
30586461 |
2018 |
|
rs378299
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the present study was to investigate the association of the FOXP3 rs2294020, ICOS rs6726035 and ICOSL rs378299 SNPs with both the susceptibility and the progression to SSc in an Italian case-series of patients.
|
29030005 |
2018 |
|
rs6726035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of the present study was to investigate the association of the FOXP3 rs2294020, ICOS rs6726035 and ICOSL rs378299 SNPs with both the susceptibility and the progression to SSc in an Italian case-series of patients.
|
29030005 |
2018 |
|
rs14024
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that the mutant with G at SNP rs14024 was associated with the high risk to SLE (p = 6.48×10-5) and SSc (p = 8.75×10-5), while the deletion allele at rs267607656 was associated with the low risk to SSc (p = 4.89×10-4) comparing to the normal controls.
|
29028840 |
2017 |
|
rs1883832
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP).
|
29254239 |
2017 |
|
rs267607656
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results showed that the mutant with G at SNP rs14024 was associated with the high risk to SLE (p = 6.48×10-5) and SSc (p = 8.75×10-5), while the deletion allele at rs267607656 was associated with the low risk to SSc (p = 4.89×10-4) comparing to the normal controls.
|
29028840 |
2017 |
|
rs3745274
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with systemic sclerosis (n = 10) or multiple sclerosis (n = 10), genotyped for the allelic variants of CYP2C9*2 and CYP2C9*3 and of the CYP2B6 G516T polymorphism, were treated with 50 mg cyclophosphamide/kg daily for 4 days.
|
28083951 |
2017 |
|
rs624988
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The combined analyses revealed an association between the rs624988 A allele and SSc susceptibility: padj=0.023, OR=1.14 (95%CI 1.04-1.25).
|
27385538 |
2017 |
|
rs7574685
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among these genes, IRF5, STAT4, and CD247 were replicated most frequently while SNPs rs35677470 in DNASE1L3, rs5029939 in TNFAIP3, and rs7574685 in STAT4 have the strongest associations with SSc.
|
28526340 |
2017 |
|
rs798036
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single marker analysis did not reveal any association between rs798036 and SSc.
|
27385538 |
2017 |
|
rs10178332
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was found in a polymorphism in the ROCK1 gene (rs35996865), a polymorphism in ROCK2 gene (rs10178332), a polymorphism in RhoA gene (rs2177268) and two polymorphisms in RhoC gene (rs11102522 and rs11538960) with SSc disease (p < 0.0022).
|
26615410 |
2016 |
|
rs11102522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was found in a polymorphism in the ROCK1 gene (rs35996865), a polymorphism in ROCK2 gene (rs10178332), a polymorphism in RhoA gene (rs2177268) and two polymorphisms in RhoC gene (rs11102522 and rs11538960) with SSc disease (p < 0.0022).
|
26615410 |
2016 |
|
rs11191865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found an association of SSc with the SNP rs6793295 in the LRRC34 gene (OR = 1.14, CI 95 % 1.03 to 1.25, p value = 0.009) and rs11191865 in the OBFC1 gene (OR = 1.09, CI 95 % 1.00 to 1.19, p value = 0.043) in the discovery cohort.
|
26792595 |
2016 |
|
rs11538960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was found in a polymorphism in the ROCK1 gene (rs35996865), a polymorphism in ROCK2 gene (rs10178332), a polymorphism in RhoA gene (rs2177268) and two polymorphisms in RhoC gene (rs11102522 and rs11538960) with SSc disease (p < 0.0022).
|
26615410 |
2016 |
|
rs117026326
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified rs117026326 on GTF2I with GWAS significance (P = 1.10 × 10<sup>-15</sup>) and rs13079920 on RBMS3 with suggestive significance (P = 2.90 × 10<sup>-5</sup>) associating with PSS in women.
|
27503288 |
2016 |