Chest
Original Research: Diffuse Lung DiseaseCT Imaging Phenotypes of Pulmonary Fibrosis in the MUC5B Promoter Site Polymorphism
Section snippets
Materials and Methods
This case control study was approved by our institutional review board (NJH 1441A). Informed consent was obtained from all subjects.
Results
The major and minor alleles at the rs35705950 SNP are G and T, respectively. There were 514 GG (G group) and 977 GT or TT (T group) subjects. The heterozygous GT group and the homozygous TT group were combined based on the dominant allele model.21
Discussion
There is growing interest in the relationship of the rs35705950 SNP variant and pulmonary fibrosis; however, to our knowledge, no studies have systematically reported the chest CT imaging manifestations relative to this SNP.5, 7, 8, 10, 14, 22 Multiple separate studies have shown a strong association between IPF and the T minor allele.6, 7, 8, 9, 10, 11, 12, 13 The odds ratios for pulmonary fibrosis among subjects who were heterozygous and those who were homozygous for the T minor allele of
Acknowledgments
Author contributions: J. H. C. takes responsibility for (is the guarantor of) the content of the manuscript, including the data and analysis. J. H. C., A. L. P., and D. A. L. designed the study. J. L. T. coordinated the clinical evaluations. J. H. C., A. C., and D. A. L. performed radiological phenotyping of study subjects. D. F. M. managed the database. A. L. P. and T. E. F. analyzed data. A. L. P. created tables. J. H. C., A. L. P., M. I. S., D. A. S., and D. A. L. provided advice on design
References (34)
- et al.
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer
Am J Hum Genet
(2009) - et al.
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study
Lancet Respir Med
(2013) - et al.
Association between MUC5B and TERT polymorphisms and different interstitial lung disease phenotypes
Transl Res
(2014) - et al.
The pulmonary fibrosis-associated MUC5B promoter polymorphism does not influence the development of interstitial pneumonia in systemic sclerosis
Chest
(2012) - et al.
High-resolution CT scan findings in familial interstitial pneumonia do not conform to those of idiopathic interstitial pneumonia
Chest
(2012) - et al.
CT scan findings of probable usual interstitial pneumonitis have a high predictive value for histologic usual interstitial pneumonitis
Chest
(2015) - et al.
Radiologic findings are strongly associated with a pathologic diagnosis of usual interstitial pneumonia
Chest
(2003) - et al.
Clinical and pathologic features of familial interstitial pneumonia
Am J Respir Crit Care Med
(2005) - et al.
A mutation in the surfactant protein C gene associated with familial interstitial lung disease
N Engl J Med
(2001) - et al.
Telomerase mutations in families with idiopathic pulmonary fibrosis
N Engl J Med
(2007)
A common MUC5B promoter polymorphism and pulmonary fibrosis
N Engl J Med
The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population
PLoS One
Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis
JAMA
Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis
Thorax
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
Nat Genet
A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis
N Engl J Med
MUC5B promoter polymorphism in Japanese patients with idiopathic pulmonary fibrosis
Respirology
Cited by (0)
Dr Chung is currently at The University of Chicago Medicine (Chicago, IL).
FUNDING/SUPPORT: This research was funded by R01 HL097163 (PI D. A. Schwartz), 1I01BX001534 (D. A. Schwartz), P01 HL092870 (PD D. A. Schwartz), and R01 HL095393 (PI D.A. Schwartz).