|
rs2004640
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis.
|
19116937 |
2009 |
|
rs11575937
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A clinical picture related to the LMNA Arg482Gln mutation may be more diversified than it was previously considered and include low BMI and pulmonary fibrosis.
|
19859838 |
2009 |
|
rs652438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no association of MMP-9(-1562T) and MMP-12(Asn357Ser) polymorphisms with lung fibrosis.
|
20392358 |
2010 |
|
rs2276109
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The MMP-12 rs2276109 gene polymorphism may contribute to susceptibility to SSc, and in particular to dcSSc and pulmonary fibrosis.
|
20595276 |
2010 |
|
rs3917200
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, there is evidence that rs3917200 is involved in the development of lung </span>fibrosis</span> in sarcoidosis.
|
21148227 |
2011 |
|
rs141425941
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two pulmonary fibrosis families that share two non-synonymous substitutions in the catalytic domain of the telomerase reverse transcriptase gene hTERT: V791I and V867M.
|
21483807 |
2011 |
|
rs34794968
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (PBonf = 3.18E-02 OR 1.27 (1.05 to 1.54)).
|
22531499 |
2012 |
|
rs727088
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (PBonf = 3.18E-02 OR 1.27 (1.05 to 1.54)).
|
22531499 |
2012 |
|
rs1059702
|
|
|
0.020 |
GeneticVariation |
BEFREE |
On the other hand, IRAK1 rs1059702 was consistently associated with presence of pulmonary fibrosis (PF), because statistical significance was observed when comparing SSc patients PF+ versus controls (PFDR=0.039, OR=1.30, 95% CI 1.07 to 1.58) and SSc patients PF+ versus SSc patients PF- (p=0.025, OR=1.26, 95% CI 1.03 to 1.55).
|
23444193 |
2013 |
|
rs35705950
|
|
|
0.050 |
GeneticVariation |
BEFREE |
After adjustment for covariates, for each copy of the minor rs35705950 allele, the odds of interstitial lung abnormalities were 2.8 times greater (95% confidence interval [CI], 2.0 to 3.9; P<0.001), and the odds of definite CT evidence of pulmonary fibrosis were 6.3 times greater (95% CI, 3.1 to 12.7; P<0.001).
|
23692170 |
2013 |
|
rs35705950
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To determine whether the MUC5B promoter polymorphism (rs35705950), previously reported to be associated with the development of pulmonary fibrosis, is associated with survival in IPF.
|
23695349 |
2013 |
|
rs7574865
|
|
|
0.020 |
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 |
|
rs10168266
|
|
|
0.010 |
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 |
|
rs2241718
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A functional polymorphism (Q705K; rs35829419) in the NLRP3 gene was associated with interstitial lung fibrosis (p=0.013), and the TGFB1 rs2241718 SNP with visceral pleural fibrosis (VPF) (p=0.044).
|
24142982 |
2014 |
|
rs35829419
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results support the hypothesis that the NLRP3 inflammasome is important in the development of fibrotic lung disease by associating the NLRP3 rs35829419 variant allele with increased risk of asbestos-related interstitial lung fibrosis, and the TGFB1 rs2241718 variant allele with decreased risk of asbestos-related VPF.
|
24142982 |
2014 |
|
rs2034650
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP in IVD (chromosome15, rs2034650) was significantly associated with pulmonary fibrosis in both the Mexican (OR = 0.40, P = .01) and Korean (OR = 0.13, P = .0008) cohorts.
|
25275363 |
2015 |
|
rs35705950
|
|
|
0.050 |
GeneticVariation |
BEFREE |
To determine the effect of the MUC5B promoter polymorphism (rs35705950) on the CT imaging appearance of pulmonary fibrosis.
|
26836909 |
2016 |
|
rs35705950
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We have previously found that 1) a common gain-of-function promoter variant in MUC5B rs35705950 is the strongest risk factor (genetic and otherwise), accounting for 30-35% of the risk of developing IPF, a disease that was previously considered idiopathic; 2) the MUC5B promoter variant can potentially be used to identify individuals with preclinical pulmonary fibrosis and is predictive of radiologic progression of preclinical pulmonary fibrosis; and 3) MUC5B may be involved in the pathogenesis of pulmonary fibrosis with MUC5B message and protein expressed in bronchiolo-alveolar epithelia of IPF and the characteristic IPF honeycomb cysts.
|
27630174 |
2016 |
|
rs1022113606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We used R213G mice expressing a naturally occurring single-nucleotide polymorphism, rs1799895, within the heparin-binding domain of SOD3, which results in an amino acid substitution at position 213 to test the hypothesis that the redistribution of SOD3 into the extracellular fluids would impart protection against bleomycin-induced lung fibrosis and secondary pulmonary hypertension (PH).
|
27805412 |
2017 |
|
rs1799895
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We used R213G mice expressing a naturally occurring single-nucleotide polymorphism, rs1799895, within the heparin-binding domain of SOD3, which results in an amino acid substitution at position 213 to test the hypothesis that the redistribution of SOD3 into the extracellular fluids would impart protection against bleomycin-induced lung fibrosis and secondary pulmonary hypertension (PH).
|
27805412 |
2017 |
|
rs1059702
|
|
|
0.020 |
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
|
|
|
0.020 |
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
|
|
|
0.020 |
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 |
|
rs35705950
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A single-nucleotide polymorphism (rs35705950) in the mucin 5B (<i>MUC5B</i>) gene promoter is associated with pulmonary fibrosis and interstitial features on chest CT but may also have beneficial effects.
|
29440587 |
2018 |
|
rs2609255
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two recent genome-wide association studies (GWASs) reported that the FAM13A gene at the 4q22 locus associated with pulmonary fibrosis (defined by rs2609255) overlapping with COPD (defined by rs6837671).
|
29621588 |
2018 |