CT Imaging Phenotypes of Pulmonary Fibrosis in the MUC5B Promoter Site Polymorphism.

Abstract

BACKGROUND:

To determine the effect of the MUC5B promoter polymorphism (rs35705950) on the CT imaging appearance of pulmonary fibrosis.

METHODS:

High-resolution CT scans of 1,764 subjects were scored as part of a, genomewide association study with institutional review board approval; 1,491 of these had pulmonary fibrosis on CT scans and were included in the study. Two thoracic radiologists independently scored CT scans systematically. Discrepancies were resolved by a third thoracic radiologist. All patients were genotyped specifically for the rs35705950 single-nucleotide polymorphism (SNP). Two-tailed Fisher exact or χ(2) tests and Student t tests or Mann-Whitney U tests were used to compare proportions and means, respectively.

RESULTS:

The major and minor alleles at the rs35705950 SNP are guanine (G) and thymine (T), respectively: 514 were homozygous for the major allele (G group), and 977 were heterozygous or homozygous for the minor allele (T group). The G group had a higher proportion than the T group with ground-glass opacity (62.1% vs 54.2%; P = .04). There was no significant difference between the G and T groups regarding presence of honeycombing. The T group showed a significantly higher subpleural axial distribution of fibrosis than did the G group (62.3% vs 42.2%; P < .0001). The T group showed a lower proportion of diagnoses inconsistent with usual interstitial pneumonitis (UIP; 20.3% compared with 30.5% for the G group) and a greater proportion of confident (probable UIP and UIP) UIP diagnoses (43.8% compared with 32.6% for the G group).

CONCLUSIONS:

The MUC5B promoter polymorphism identifies a pattern of fibrosis that is different from other causes of fibrosis and may respond differently to potential therapies.

• Authors: Jonathan H Chung, Anna L Peljto, Ashish Chawla, Janet L Talbert, David F McKean, Byung-Hak Rho, Tasha E Fingerlin, Marvin I Schwarz, David A Schwartz, David A Lynch
• Journal: Chest (Chest) Vol. 149 Issue 5 Pg. 1215-22 (05 2016) ISSN: 1931-3543 [Electronic] United States
• PMID: 26836909 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

Chemical References

• MUC5B protein, human
• Mucin-5B

Topics

• Aged
• Alleles
• Cohort Studies
• Female
• Genotype
• Heterozygote
• Humans
• Idiopathic Pulmonary Fibrosis (diagnostic imaging, genetics)
• Lung (diagnostic imaging)
• Male
• Middle Aged
• Mucin-5B (genetics)
• Phenotype
• Polymorphism, Genetic
• Polymorphism, Single Nucleotide
• Promoter Regions, Genetic (genetics)
• Pulmonary Fibrosis (diagnostic imaging, genetics)
• Tomography, X-Ray Computed