|
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 |
A common gain-of-function MUC5B promoter variant, rs35705950, is the strongest risk factor (genetic and otherwise), accounting for at least 30% of the total risk of developing IPF.
|
30431344 |
2018 |
|
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 |
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 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 |
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 |
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 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 |
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 |
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 |
Four common SNPs (rs3737002, rs2296160, rs1800470, and rs35705950) were observed to be statistically associated with increased risk of IPF.
|
29920840 |
2018 |
|
rs35705950
|
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Given the phenotypic similarities between rheumatoid arthritis (RA)-associated interstitial lung disease (ILD) (hereafter, RA-ILD) and idiopathic pulmonary fibrosis, we hypothesized that the strongest risk factor for the development of idiopathic pulmonary fibrosis, the gain-of-function MUC5B promoter variant rs35705950, would also contribute to the risk of ILD among patients with RA.
|
30345907 |
2018 |
|
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 |
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 |
|
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 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 common gain-of-function MUC5B promoter variant ( rs35705950 ) is the strongest risk factor for the development of idiopathic pulmonary fibrosis (IPF).
|
29565179 |
2018 |
|
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 |
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 |
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 |
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 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 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 |
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 |