Abstract
BackgroundA polymorphism (rs35705950) in the promoter region of the mucin MUC5B is associated with both familial and sporadic forms of idiopathic pulmonary fibrosis. (IPF) We hypothesize that this common MUC5B variant will impact the expression of cough, a frequent disabling symptom seen in subjects with IPF.MethodsWe genotyped 136 subjects with IPF. All living subjects were provided with a Leicester Cough Questionnaire (LCQ) to measure cough severity. We assessed allele effects of the MUC5B polymorphism on the LCQ scores using SAS General Linear Models (GLM) in the patients with IPF.ResultsIn the 68 of the total 136 IPF patients who returned the LCQ, MUC5B minor allele frequency (T) is consistent with prior published studies (31%). We found a significant independent effect of the T allele on the LCQ score (p = 0.002 for subjects with IPF). This effect is independent of other common causes of cough, including gastroesophogeal reflux disease and upper airway cough syndrome.ConclusionsCough severity, a common disabling phenotypic component of IPF, is significantly associated with the presence of the minor allele of a MUC5B promoter polymorphism. This study highlights a possible genetic mechanism for phenotypic heterogeneity in pulmonary fibrosis.
Highlights
The Interstitial Lung Diseases (ILDs) are a heterogeneous group of lung diseases that result in progressive pulmonary functional decline and death
A common variant in the promoter region of the mucin 5B (MUC5B) gene [1] was found to be associated with the development of idiopathic pulmonary fibrosis as well an increased production of MUC5B, an airway mucin
Descriptive results A total of 136 subjects with idiopathic pulmonary fibrosis. (IPF) were genotyped for the MUC5B SNP rs35705950
Summary
Introduction The Interstitial Lung Diseases (ILDs) are a heterogeneous group of lung diseases that result in progressive pulmonary functional decline and death. Idiopathic pulmonary fibrosis (IPF) is the most common idiopathic ILD, with an estimated 100,000 Americans affected. A common variant in the promoter region of the mucin 5B (MUC5B) gene [1] was found to be associated with the development of idiopathic pulmonary fibrosis as well an increased production of MUC5B, an airway mucin. Cough is a prominent but not universal symptom in patients with IPF. Cough is estimated to be present in 84% of patients with IPF and is more prevalent in. A polymorphism (rs35705950) in the promoter region of the mucin MUC5B is associated with both familial and sporadic forms of idiopathic pulmonary fibrosis. (IPF) We hypothesize that this common MUC5B variant will impact the expression of cough, a frequent disabling symptom seen in subjects with IPF A polymorphism (rs35705950) in the promoter region of the mucin MUC5B is associated with both familial and sporadic forms of idiopathic pulmonary fibrosis. (IPF) We hypothesize that this common MUC5B variant will impact the expression of cough, a frequent disabling symptom seen in subjects with IPF
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