|
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 |
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 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 |
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 |
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 |
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 |
However, whole genome sequencing identified several common variants associated with IPF, including a single nucleotide polymorphism (SNP), rs35705950, located in the promoter region of the gene encoding mucin glycoprotein MUC5B.
|
25192356 |
2014 |
|
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 |
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 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 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 |
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 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The strength of association between rs35705950 minor T allele and IPF susceptibility was particularly evident in the Caucasian population, and milder but still significant in the Asian population.
|
26512610 |
2015 |
|
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 |
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 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 |
|
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 |
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 |
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 |
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 |
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 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 |
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 |