Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel genome-wide significant signal of association with IPF susceptibility near A-kinase anchoring protein 13 (AKAP13; rs62025270, odds ratio [OR] 1·27 [95% CI 1·18-1·37], p=1·32 × 10<sup>-9</sup>) and confirmed previously reported signals, including in mucin 5B (MUC5B; rs35705950, OR 2·89 [2·56-3·26], p=1·12 × 10<sup>-66</sup>) and desmoplakin (DSP; rs2076295, OR 1·44 [1·35-1·54], p=7·81 × 10<sup>-28</sup>).
|
29066090 |
2017 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MUC5B promoter rs868903 polymorphism and TLs were associated with radiographic extent and survival in a Chinese IPF cohort.
|
31653936 |
2019 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, genetic variants of TOLLIP, MUC-5B, and other genes associated with a differential response to treatment and with the development and/or the prognosis of IPF are reported.
|
30526140 |
2019 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Secreted mucins (MUC2, MUC5AC, MUC5B, MUC6-8 and MUC19) are released to the extracellular medium and recent evidence has shown that a promoter polymorphism in the secreted mucin MUC5B is associated with IPF risk.
|
31514468 |
2019 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The MUC5B promoter SNP rs35705950 was associated with IPF in the Mexican (OR = 7.36, P = .0001), but not the Korean (P = .99) cohort.
|
25275363 |
2015 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A common variant in mucin 5B predisposes to both familial and sporadic IPF and is present in the majority of cases, indicating sporadic IPF occurs in those with genetic predisposition.
|
23020878 |
2013 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MUC5B promoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis.
|
25581455 |
2015 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF sporadic ILD were tested using 227 patients with ILD and 689 control subjects.
|
24434656 |
2014 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A promoter variant in MUC5B, rs35705950, was previously found to be strongly associated with the incidence of idiopathic pulmonary fibrosis (IPF) and also the overall survival (OS) of such patients.
|
28189065 |
2017 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We confirm the MUC5B variant association with IPF.
|
23321605 |
2013 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Baseline bacterial burden predicted the rate of decline in lung volume and risk of death and associated independently with the rs35705950 polymorphism of the MUC5B mucin gene, a proven host susceptibility factor for IPF.
|
25184687 |
2014 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, genetic variants of TOLLIP, MUC5B, and other genes are associated with a differential response to treatment and with the development and/or the prognosis of IPF.
|
29408012 |
2018 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The MUC5B promoter polymorphism was recently found to markedly elevate risk for IPF, though a particular association with NSIP has not been previously reported, nor has its contribution to disease risk previously been evaluated in the genome-wide context of all genetic variants.
|
25192356 |
2014 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In spIPF carriership of MUC5B minor allele did not influence survival.
|
26699835 |
2016 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A common promoter polymorphism (rs35705950) in MUC5B, the gene encoding mucin 5B, is associated with idiopathic pulmonary fibrosis.
|
23692170 |
2013 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Similarly, recent genetic studies have demonstrated strong and replicable associations between a common promoter polymorphism in the mucin 5B gene (MUC5B) and both IPF and the presence of abnormal imaging findings in the general population.
|
24547893 |
2014 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We genotyped the MUC5B promoter in the first 142 patients of the French national prospective cohort of IPF, in 981 French patients with SSc (346 ILD), 598 Italian patients with SSc (207 ILD), 1383 French controls and 494 Italian controls.
|
23940607 |
2013 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found that the MUC5B promoter variant was associated with RA-ILD and more specifically associated with evidence of usual interstitial pneumonia on imaging.
|
30345907 |
2018 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The variation of G>T in the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP) in Caucasians, but no information is available regarding this variant in the Chinese population.
|
25121989 |
2014 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The MUC5B rs35705950 T/G polymorphism confers susceptibility to IPF in Europeans and Asians, but is not associated with susceptibility to CTD-ILD.
|
25926289 |
2015 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The strength of association was more remarkable in the Caucasian population than in the Asian population, and no homozygous TT genotype was detected in the Asian population in our study.Our study revealed strong association between the MUC5B promoter rs35705950 polymorphism and the risk of IPF.
|
26512610 |
2015 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
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 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We measured two common single-nucleotide polymorphisms associated with IPF (MUC5B rs35705950 and TOLLIP rs5743890) and telomere length in peripheral blood leucocytes, and assessed their associations with chronic hypersensitivity pneumonitis risk, survival, and clinical, radiographic, and pathological features.
|
28648751 |
2017 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
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 |
Idiopathic Pulmonary Fibrosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrated that the MUC5B polymorphism rs35705950 is associated with increased risk of idiopathic pulmonary fibrosis susceptibility, severity, and the decreased overall survival.
|
26823827 |
2015 |