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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803086PMC
http://dx.doi.org/10.1164/rccm.201509-1872LEDOI Listing

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Objective: The common gain-of-function variant rs35705950, located in the promoter of gene, has been strongly associated with interstitial lung diseases (ILDs) of different aetiology, such as idiopathic pulmonary fibrosis (IPF) and rheumatoid arthritis-associated ILD (RA-ILD). In this study, we aimed to investigate the association of this variant and its nearby single nucleotide polymorphisms (SNPs) in the largest cohort of systemic sclerosis-associated ILD (SSc-ILD) to date.

Methods: Samples were collected from blood/saliva, followed by DNA extraction and genotyping using SNP arrays.

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Background And Objective: Idiopathic Pulmonary Fibrosis (IPF) is an interstitial lung disease that causes irreversible alterations in the architecture of the lung parenchyma, leading to impaired ventilation. Both environmental factors and genetic predisposition play significant roles in the development of IPF. A single nucleotide polymorphism (SNP) (rs35705950) within the promoter of the mucin 5B gene ( has been reported to be associated with the disease; however, no data is available from Lebanon or the Middle East.

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The gain-of-function MUC5B promoter variant is the dominant risk factor for the development of idiopathic pulmonary fibrosis (IPF). However, its impact on protein expression in both nonfibrotic control and IPF lung specimens has not been well characterized. Utilizing laser capture microdissection coupled to mass spectrometry, we investigated the proteomic profiles of airway and alveolar epithelium in nonfibrotic controls (n = 12) and IPF specimens (n = 12), stratified by the MUC5B promoter variant.

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Genetic underpinning of idiopathic pulmonary fibrosis: the role of mucin.

Expert Rev Respir Med

February 2025

Department of Medicine, University of Colorado Denver, School of Medicine, Aurora, CO, USA.

Introduction: Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by progressive scarring and reduced survival. The development of IPF is influenced by rare and common genetic variants, cigarette smoking, aging, and environmental exposures. Among the two dozen genetic contributors, the MUC5B promoter variant (rs35705950) is the dominant risk factor, increasing the risk of both familial and sporadic IPF and accounting for nearly 50% of the genetic predisposition to the disease.

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