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Updated: May 3, 2026
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Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
Published on: January 6, 2015
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Association between MUC5B and TERT polymorphisms and different interstitial lung disease phenotypes.
Rongrong Wei1, Chong Li1, Min Zhang2
1Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, Ind.
Summary
Genetic variations in TERT and MUC5B are linked to interstitial lung disease (ILD). The MUC5B polymorphism (rs35705950) shows a stronger association with idiopathic pulmonary fibrosis (IPF) and ILD without airflow obstruction.
Area of Science:
- Pulmonary Medicine
- Genetics
- Epidemiology
Background:
- Idiopathic pulmonary fibrosis (IPF) and other interstitial lung diseases (ILDs) are complex conditions with genetic underpinnings.
- Genome-wide association studies have identified TERT and MUC5B polymorphisms as significant risk factors for IPF.
- The specific contributions of these genetic loci to the susceptibility of various sporadic ILD entities remain incompletely understood.
Purpose of the Study:
- To investigate the association of TERT (rs2736100) and MUC5B (rs35705950) polymorphisms with IPF and non-IPF sporadic ILD in a white population.
- To determine if these polymorphisms correlate with pulmonary function parameters in patients with ILD.
- To explore the differential contribution of these genetic variants to distinct ILD phenotypes, including IPF and ILD without airflow obstruction.
Main Methods:
- Case-control study design involving 227 patients with ILD and 689 control subjects.
- Genotyping of TERT (rs2736100) and MUC5B (rs35705950) polymorphisms using established methods.
- Statistical analysis to assess the association of genotypes with ILD status, specific ILD subtypes (IPF vs. other ILD), and pulmonary function tests.
Main Results:
- Both TERT (rs2736100) and MUC5B (rs35705950) polymorphisms were significantly and independently associated with ILD as a single phenotype.
- The MUC5B polymorphism (rs35705950) demonstrated a stronger association with IPF compared to other ILD entities.
- The TERT polymorphism (rs2736100) was associated with other ILD but not IPF, and rs35705950 correlated with increased pulmonary function and ILD without airflow obstruction, particularly IPF without airflow obstruction.
Conclusions:
- Both TERT and MUC5B loci confer independent risks for developing ILD.
- The MUC5B polymorphism (rs35705950) appears to have a differential impact on IPF and other ILD entities, and is strongly associated with ILD phenotypes lacking airflow obstruction.
- These findings underscore the genetic heterogeneity of ILD and highlight specific genetic risk factors for different disease subtypes.
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