Journal article
Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPD
The European respiratory journal, Vol.37(1), pp.39-43
2011
DOI: 10.1183/09031936.00173009
PMID: 20525719
Abstract
The principal determining factors influencing the development of the airway disease and emphysema components of chronic obstructive pulmonary disease (COPD) have not been clearly defined. Genetic variability in COPD patients might influence the varying degrees of involvement of airway disease and emphysema. Therefore, we investigated the genetic association of single nucleotide polymorphisms (SNPs) in COPD candidate genes for association with emphysema severity and airway wall thickness phenotypes.
Polymorphisms in six candidate genes were analysed in 379 subjects of the National Emphysema Treatment Trial (NETT) Genetics Ancillary Study with quantitative chest computed tomography (CT) data. Genetic association with per cent of lung area below -950 HU (LAA950), airway wall thickness, and derived square root wall area (SRWA) of 10-mm internal perimeter airways were investigated.
Three SNPs in EPHX1, five SNPs in SERPINE2 and one SNP in GSTP1 were significantly associated with LAA950. Five SNPs in TGFB1, two SNPs in EPHX1, one SNP in SERPINE2 and two SNPs in ADRB2 were associated with airway wall phenotypes in NETT.
In conclusion, several COPD candidate genes showed evidence for association with airway wall thickness and emphysema severity using CT in a severe COPD population. Further investigation will be required to replicate these genetic associations for emphysema and airway wall phenotypes.
Details
- Title: Subtitle
- Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPD
- Creators
- W. J KIM - Channing Laboratory, Brigham and Women's Hospital, Boston, MA, United StatesE HOFFMAN - Dept of Radiology, University of Iowa, Iowa City, IA, United StatesJ REILLY - Division of Pulmonary and Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA, United StatesC HERSH - Channing Laboratory, Brigham and Women's Hospital, Boston, MA, United StatesD DEMEO - Channing Laboratory, Brigham and Women's Hospital, Boston, MA, United StatesG WASHKO - Dlvision of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, United StatesE. K SILVERMAN - Channing Laboratory, Brigham and Women's Hospital, Boston, MA, United States
- Resource Type
- Journal article
- Publication Details
- The European respiratory journal, Vol.37(1), pp.39-43
- Publisher
- Maney; Leeds
- DOI
- 10.1183/09031936.00173009
- PMID
- 20525719
- ISSN
- 0903-1936
- eISSN
- 1399-3003
- Language
- English
- Date published
- 2011
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Radiology; Internal Medicine
- Record Identifier
- 9984051544702771
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