ArticleTranslational research : the journal of laboratory and clinical medicine2014
Association between MUC5B and TERT polymorphisms and different interstitial lung disease phenotypes.
Article in Translational research : the journal of laboratory and clinical medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 6 of them syntheses that pooled it.
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Who cites it
52 citing papers in PubMed, 6 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Associations between genetic variants of Toll-interacting proteins and interstitial lung diseases: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2024Pooled it
- 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
- The minor T allele of the MUC5B promoter rs35705950 associated with susceptibility to idiopathic pulmonary fibrosis: a meta-analysis.Scientific reports · 2021Pooled it
- Association between FCGR2A rs1801274 and MUC5B rs35705950 variations and pneumonia susceptibility.BMC medical genetics · 2020Pooled it
- Pooled it
- A meta-analysis examining the association between the MUC5B rs35705950 T/G polymorphism and susceptibility to idiopathic pulmonary fibrosis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2015Pooled it
- Genes, other than Muc5b, are associated with bleomycin-induced lung injury.Communications biology · 2026Article
- Ectopic expression of MUC5B in the respiratory bronchiole initiates endoplasmic reticulum stress in the IPF lung.American journal of respiratory cell and molecular biology · 2026Article
- TGF-β Signaling as a Pathological Continuum Linking Idiopathic Pulmonary Fibrosis and Lung Cancer.Cells · 2026Review
- Shared genetic architecture and potential comorbid mechanisms between rheumatoid arthritis and idiopathic pulmonary fibrosis.Clinical rheumatology · 2026Article
- The distribution and the clinical importance of MUC5B and TERT variants in Turkish patients with idiopathic pulmonary fibrosis.BMC pulmonary medicine · 2025Article
- Article
- Association of theFrontiers in genetics · 2025Article
- Emerging cell and molecular targets for treating mucus hypersecretion in asthma.Allergology international : official journal of the Japanese Society of Allergology · 2024Review
- Can TERT rs2853669 polymorphysm indicate fibrosis in sarcoidosis?Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2023Article
- KIF15 missense variant is associated with the early onset of idiopathic pulmonary fibrosis.Respiratory research · 2023Observational
- Epithelial Endoplasmic Reticulum Stress Enhances the Risk of Muc5b-associated Lung Fibrosis.American journal of respiratory cell and molecular biology · 2023Article
- Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine.Frontiers in medicine · 2023Review
- The Idiopathic Pulmonary Fibrosis-Associated Single Nucleotide Polymorphism RS35705950 Is Transcribed in a MUC5B Promoter Associated Long Non-Coding RNA (AC061979.1).Non-coding RNA · 2022Article
- Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles ofAmerican journal of respiratory and critical care medicine · 2022Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
TERT and MUC5B polymorphisms have been associated consistently with idiopathic pulmonary fibrosis (IPF) in recent genomewide genetic studies. However, it remains unclear how both loci contribute to the susceptibility to different entities of sporadic interstitial lung disease (ILD). We sought to test the associations of the 2 polymorphisms with IPF and non-IPF ILD entities in a white population. Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF sporadic ILD were tested using 227 patients with ILD and 689 control subjects. Genotypic data were also correlated with pulmonary functions measured in patients with ILD. 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). When considering IPF and "other ILD" (non-IPF) separately, rs35705950 had a stronger association with IPF (OR, 3.2; 95% CI, 2.21-4.63; P = 1.2 × 10(-10)) than with other ILD (OR, 1.72; 95% CI, 1.22-2.42; P = 1.2 × 10(-3)). In contrast, rs2736100 was associated with other ILD (OR, 1.43; 95% CI, 1.11-1.85; P = 6.2 × 10(-3)) but not with IPF (OR, 1.08; 95% CI, 0.78-1.49; P > 0.05). Rs35705950 correlated significantly with increased pulmonary function (P < 0.05). It was also associated with ILD without airflow obstruction in both the IPF and other ILD groups (P < 0.01 for both), and conferred the highest risk for IPF without airflow obstruction (OR, 4.46; 95% CI, 2.60-7.66; P = 4.5 × 10(-9)). Our study suggests that although both loci confer independent risks for ILD, rs35705950 may, in particular, contribute differentially to IPF and other ILD entities. Our study further highlights the genetic and phenotypic heterogeneity of ILD.
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