|
PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
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 |
|
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 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
A common MUC5B promoter variant rs35705950 is associated with adult Idiopathic Pulmonary Fibrosis (IPF).
|
25858779 |
2015 |
|
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 |
|
Familial (FPAH)
|
|
0.050 |
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 |
|
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 |
|
Connective Tissue Diseases
|
|
0.030 |
GeneticVariation
|
BEFREE |
A meta-analysis was conducted to determine associations between the MUC5B rs35705950 T/G polymorphism and either IPF or connective tissue disease-associated interstitial lung disease (CTD-ILD).
|
25926289 |
2015 |
|
Familial (FPAH)
|
|
0.050 |
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 |
|
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 |
|
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 |
|
Systemic Scleroderma
|
|
0.010 |
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 |
|
Lung Diseases, Interstitial
|
|
0.050 |
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 |
|
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 |
|
Pulmonary Fibrosis
|
|
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 |
|
Pulmonary Fibrosis
|
|
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 |
|
Lung Diseases, Interstitial
|
|
0.050 |
GeneticVariation
|
BEFREE |
As a result, rs2736100 and rs35705950 were associated significantly and independently with ILD as a single phenotype (Odds ratio [OR], 1.29; 95% confidence interval [CI], 1.04-1.60; P = 2 × 10(-2); and OR, 2.22; 95% CI, 1.69-2.92; P = 7 × 10(-9); respectively).
|
24434656 |
2014 |
|
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 |
|
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 |
|
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 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
GWASDB |
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
|
24429156 |
2013 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
|
24429156 |
2013 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.900 |
GeneticVariation
|
GWASCAT |
Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study.
|
29066090 |
2017 |
|
Rheumatoid Arthritis
|
|
0.010 |
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 |
|
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 |