title: CT Imaging Phenotypes of Pulmonary Fibrosis in the MUC5B Promoter Site Polymorphism.
abstract: To determine the effect of the MUC5B promoter polymorphism (rs35705950) on the CT imaging appearance of pulmonary fibrosis.
  
  
  
  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.
  
  
  
  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).
  
  
  
  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.affiliation: Department of Radiology, National Jewish Health, Denver, CO. Electronic address: jonherochung@uchicago.edu.
authors.forename: Jonathan H
authors.initials: JH
authors.lastname: Chung
authors.affiliation: Department of Medicine, University of Colorado, Aurora, CO.
authors.forename: Anna L
authors.initials: AL
authors.lastname: Peljto
authors.affiliation: Department of Radiology, National Jewish Health, Denver, CO.
authors.forename: Ashish
authors.initials: A
authors.lastname: Chawla
authors.affiliation: Department of Medicine, National Jewish Health, Denver, CO.
authors.forename: Janet L
authors.initials: JL
authors.lastname: Talbert
authors.affiliation: Department of Medicine, University of Colorado, Aurora, CO.
authors.forename: David F
authors.initials: DF
authors.lastname: McKean
authors.affiliation: Department of Radiology, National Jewish Health, Denver, CO.
authors.forename: Byung-Hak
authors.initials: BH
authors.lastname: Rho
authors.affiliation: Department of Epidemiology, University of Colorado, Aurora, CO.
authors.forename: Tasha E
authors.initials: TE
authors.lastname: Fingerlin
authors.affiliation: Department of Medicine, University of Colorado, Aurora, CO.
authors.forename: Marvin I
authors.initials: MI
authors.lastname: Schwarz
authors.affiliation: Department of Medicine, University of Colorado, Aurora, CO; Department of Immunology, University of Colorado, Aurora, CO.
authors.forename: David A
authors.initials: DA
authors.lastname: Schwartz
authors.affiliation: Department of Radiology, National Jewish Health, Denver, CO.
authors.forename: David A
authors.initials: DA
authors.lastname: Lynch
mesh_terms: D000368:Aged; D000483:Alleles; D015331:Cohort Studies; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000000981:diagnostic imaging* / Q000235:genetics; D008168:Lung / Q000000981:diagnostic imaging*; D008297:Male; D008875:Middle Aged; D055257:Mucin-5B / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D011658:Pulmonary Fibrosis / Q000000981:diagnostic imaging / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: C524578:MUC5B protein, human; D055257:Mucin-5B
keywords: CT imaging; MUC5B; idiopathic pulmonary fibrosis; rs35705950; usual interstitial pneumonitis
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