A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.

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Abstract

Chronic obstructive pulmonary disease (COPD) is defined by the presence of airflow limitation on spirometry, yet subjects with COPD can have marked differences in computed tomography imaging. These differences may be driven by genetic factors. We hypothesized that a genome-wide association study (GWAS) of quantitative imaging would identify loci not previously identified in analyses of COPD or spirometry. In addition, we sought to determine whether previously described genome-wide significant COPD and spirometric loci were associated with emphysema or airway phenotypes.

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Author and article information

Journal

Journal ID (iso-abbrev): Am. J. Respir. Crit. Care Med.

Title: American journal of respiratory and critical care medicine

ISSN (Electronic): 1535-4970

ISSN (Print): 1073-449X

Publication date (Electronic): Sep 1 2015

Volume: 192

Issue: 5

Affiliations

[1 ] 1 Channing Division of Network Medicine and.

[2 ] 2 Division of Pulmonary and Critical Care Medicine, Department of Medicine, and.

[3 ] 3 Department of Medicine, College of Physicians and Surgeons, and.

[4 ] 4 Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York.

[5 ] 5 GlaxoSmithKline Research and Development, King of Prussia, Pennsylvania.

[6 ] 6 Department of Clinical Science, University of Bergen, Bergen, Norway.

[7 ] 7 Laboratory of Mathematics in Imaging, Department of Radiology, Brigham and Women's Hospital, Boston, Massachusetts.

[8 ] 8 Queens Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom.

[9 ] 9 Department of Radiology and.

[10 ] 10 Department of Biomedical Engineering, University of Iowa, Iowa City, Iowa.

[11 ] 11 Department of Radiology, University of British Columbia, Vancouver, British Columbia, Canada.

[12 ] 12 Department of Radiology, National Jewish Health, Denver, Colorado.

[13 ] 13 Harvard School of Public Health, Boston, Massachusetts; and.

[14 ] 14 Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland.

Article

DOI: 10.1164/rccm.201501-0148OC

PMC ID: 4595690

PubMed ID: 26030696

SO-VID: a7722766-87fc-44b4-98c0-eb2aa110c767

History

Keywords: airway,chronic obstructive pulmonary disease,emphysema,genetics

Data availability:

Keywords: airway, chronic obstructive pulmonary disease, emphysema, genetics

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