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Human airway branch variation and chronic obstructive pulmonary disease.

Author
Abstract
:

Susceptibility to chronic obstructive pulmonary disease (COPD) beyond cigarette smoking is incompletely understood, although several genetic variants associated with COPD are known to regulate airway branch development. We demonstrate that in vivo central airway branch variants are present in 26.5% of the general population, are unchanged over 10 y, and exhibit strong familial aggregation. The most common airway branch variant is associated with COPD in two cohorts (n = 5,054), with greater central airway bifurcation density, and with emphysema throughout the lung. The second most common airway branch variant is associated with COPD among smokers, with narrower airway lumens in all lobes, and with genetic polymorphisms within the FGF10 gene. We conclude that central airway branch variation, readily detected by computed tomography, is a biomarker of widely altered lung structure with a genetic basis and represents a COPD susceptibility factor.

Year of Publication
:
2018
Journal
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Proceedings of the National Academy of Sciences of the United States of America
Date Published
:
2018
ISSN Number
:
0027-8424
URL
:
http://www.pnas.org/cgi/pmidlookup?view=long&pmid=29339516
DOI
:
10.1073/pnas.1715564115
Short Title
:
Proc Natl Acad Sci U S A
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