|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
A common promoter polymorphism (rs35705950) in MUC5B, the gene encoding mucin 5B, is associated with idiopathic pulmonary fibrosis.
|
23692170 |
2013 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD).
|
23940607 |
2013 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
A common polymorphism in the MUC5B gene (rs35705950) is associated with susceptibility to idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP).
|
26699835 |
2016 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
A polymorphism (rs35705950) 3 kb upstream of MUC5B, the gene encoding Mucin 5 subtype B, has been shown to be associated with familial and sporadic idiopathic pulmonary fibrosis (IPF).
|
23321605 |
2013 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
A common MUC5B promoter variant rs35705950 is associated with adult Idiopathic Pulmonary Fibrosis (IPF).
|
25858779 |
2015 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
<b>Conclusions:</b> A positive feedback bistable ERN2-XBP1S pathway regulates MUC5B-dominated mucus obstruction in IPF, providing an unfolded protein response-dependent mechanism linking the <i>MUC5B</i> promoter rs35705950 polymorphism with IPF pathogenesis.
|
30973754 |
2019 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial and sporadic idiopathic pulmonary fibrosis (IPF) are strongly associated with a single nucleotide polymorphism in the promoter region of MUC5B (rs35705950).
|
29206633 |
2017 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our study suggests that although both loci confer independent risks for ILD, rs35705950 may, in particular, contribute differentially to IPF and other ILD entities.
|
24434656 |
2014 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The minor allele of the MUC5B rs35705950 genotype is prevalent in several sporadic forms of ILD, including idiopathic pulmonary fibrosis and chronic hypersensitivity pneumonitis.
|
30660786 |
2019 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The gain-of-function MUC5B promoter variant rs35705950 is the dominant risk factor for developing idiopathic pulmonary fibrosis (IPF).
|
30560893 |
2018 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
This region is differentially methylated in association with idiopathic pulmonary fibrosis, MUC5B expression, and rs35705950.
|
28272906 |
2017 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The minor-allele of the single-nucleotide polymorphism (SNP) rs35705950, located 3 kb upstream of the MUC5B transcription start site, was present at a frequency of 34% among subjects with familial interstitial pneumonia, 38% among subjects with idiopathic pulmonary fibrosis, and 9% among controls (allelic association with familial interstitial pneumonia, P=1.2×10(-15); allelic association with idiopathic pulmonary fibrosis, P=2.5×10(-37)).
|
21506741 |
2011 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most widely replicated variant (rs35705950) is located in the promoter region of the <i>MUC5B</i> gene and has been strongly associated with idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP) across multiple different cohorts.
|
27799632 |
2016 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We tested five single-nucleotide polymorphisms [rs35705950, rs868903 in MUC5B, rs2736100, rs2853676 in TERT and rs1881984 in Telomerase RNA Gene (TERC) and TLs in peripheral blood leucocytes, and evaluated their associations with radiographic extent and survival in IPF.
|
31653936 |
2019 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We aimed to assess whether rare protein-altering variants in genes regulating telomere length are enriched in patients with IPF homozygous for the non-risk alleles at rs35705950.
|
29891356 |
2018 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The association between rs35705950 and IPF was also present in this Japanese cohort, but was not as strong as the German counterpart.
|
25581455 |
2015 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Leukocyte telomere length (LTL), <i>MUC5B</i> rs35705950 and <i>TOLLIP</i> rs5743890 have been associated with idiopathic pulmonary fibrosis (IPF).In this observational cohort study, we assessed the associations between these genomic markers and outcomes of survival and rate of disease progression in patients with interstitial pneumonia with autoimmune features (IPAF, n=250) and connective tissue disease-associated interstitial lung disease (CTD-ILD, n=248).
|
30635297 |
2019 |