ArticleThe New England journal of medicine2011
A common MUC5B promoter polymorphism and pulmonary fibrosis.
Article in The New England journal of medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 700 papers, 6 of them syntheses that pooled it.
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700 citing papers in PubMed, 6 syntheses or guidelines pooled it, 1,192 citations in OpenAlex.
- Common and rare variant analyses reveal genetic factors underlying idiopathic pulmonary fibrosis and its shared aetiology with severe COVID-19.EBioMedicine · 2025Pooled it
- Assessing theRMD open · 2025Pooled it
- Approach to the Evaluation and Management of Interstitial Lung Abnormalities: An Official American Thoracic Society Clinical Statement.American journal of respiratory and critical care medicine · 2025Guideline
- Common single nucleotide polymorphisms associated with idiopathic pulmonary fibrosis: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2024Pooled it
- Incidence and prevalence of interstitial lung diseases worldwide: a systematic literature review.BMJ open respiratory research · 2023Pooled it
- Longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis: a genome-wide association study.The Lancet. Respiratory medicine · 2023Pooled it
- Gut microbiota associate with disease severity and survival in idiopathic pulmonary fibrosis.American journal of respiratory and critical care medicine · 2026Article
- Lung disease in rheumatoid arthritis.Nature reviews. Rheumatology · 2026Review
- What Explains the Pattern of Fibrosis in Chronic Graft-Versus-Host Disease?Clinical transplantation · 2026Review
- Transcriptomic signatures of IPF in ALI-cultured airway cells and their therapeutic implications.Thorax · 2026Article
- Clearing the Pulmonary Traffic Jam With Dual-Enzyme Inhalable Nanoparticles Restore Airflow and Reverse Fibrotic Remodeling.Advanced healthcare materials · 2026Article
- Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.Pediatric pulmonology · 2026Article
- A SNP altering the MUC5AC mucin structure is increased in idiopathic pulmonary fibrosis together with the MUC5B SNP.Respiratory research · 2026Article
- Next-Generation Sequencing in Pulmonary Fibrosis: Translational Promise and Current Clinical Limitations.Current issues in molecular biology · 2026Review
- Pulmonary fibrosis after COVID-19 is characterized by airway abnormalities and elevated club cell secretory protein-16.JCI insight · 2026Article
- Unleashing innovative cross-organ fibrosis therapies by harnessing the omics revolution.JCI insight · 2026Review
- Geographical, institutional and workplace variability in genetic evaluation, screening practices, multidisciplinary care, and lung transplantation management for familial interstitial lung disease.BMC pulmonary medicine · 2026Article
- Complex structural variation, phylogeny, and disease associations of the mucin pangenome.medRxiv : the preprint server for health sciences · 2026Article
- Airway secretory cells contain both a perinuclear Golgi ribbon and dispersed Golgi satellites.American journal of respiratory cell and molecular biology · 2026Article
- Basal Cells Contribute to Pulmonary Fibrosis via SP1-Mediated Senescence-Associated Secretory Phenotype.The clinical respiratory journal · 2026Article
640 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 10 institutions in 2 countries.
Funding
Abstract
backgroundThe mutations that have been implicated in pulmonary fibrosis account for only a small proportion of the population risk.
methodsUsing a genomewide linkage scan, we detected linkage between idiopathic interstitial pneumonia and a 3.4-Mb region of chromosome 11p15 in 82 families. We then evaluated genetic variation in this region in gel-forming mucin genes expressed in the lung among 83 subjects with familial interstitial pneumonia, 492 subjects with idiopathic pulmonary fibrosis, and 322 controls. MUC5B expression was assessed in lung tissue.
resultsLinkage and fine mapping were used to identify a region of interest on the p-terminus of chromosome 11 that included gel-forming mucin genes. 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)). The odds ratios for disease among subjects who were heterozygous and those who were homozygous for the minor allele of this SNP were 6.8 (95% confidence interval [CI], 3.9 to 12.0) and 20.8 (95% CI, 3.8 to 113.7), respectively, for familial interstitial pneumonia and 9.0 (95% CI, 6.2 to 13.1) and 21.8 (95% CI, 5.1 to 93.5), respectively, for idiopathic pulmonary fibrosis. MUC5B expression in the lung was 14.1 times as high in subjects who had idiopathic pulmonary fibrosis as in those who did not (P<0.001). The variant allele of rs35705950 was associated with up-regulation in MUC5B expression in the lung in unaffected subjects (expression was 37.4 times as high as in unaffected subjects homozygous for the wild-type allele, P<0.001). MUC5B protein was expressed in lesions of idiopathic pulmonary fibrosis.
conclusionsA common polymorphism in the promoter of MUC5B is associated with familial interstitial pneumonia and idiopathic pulmonary fibrosis. Our findings suggest that dysregulated MUC5B expression in the lung may be involved in the pathogenesis of pulmonary fibrosis. (Funded by the National Heart, Lung, and Blood Institute and others.).
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