title: Genetic epidemiology of COPD (COPDGene) study design.
abstract: BACKGROUND
  COPDGene is a multicenter observational study designed to identify genetic factors associated with COPD. It will also characterize chest CT phenotypes in COPD subjects, including assessment of emphysema, gas trapping, and airway wall thickening. Finally, subtypes of COPD based on these phenotypes will be used in a comprehensive genome-wide study to identify COPD susceptibility genes.
  
  
  RESULTS
  COPDGene will enroll 10,000 smokers with and without COPD across the GOLD stages. Both Non-Hispanic white and African-American subjects are included in the cohort. Inspiratory and expiratory chest CT scans will be obtained on all participants. In addition to the cross-sectional enrollment process, these subjects will be followed regularly for longitudinal studies. A genome-wide association study (GWAS) will be done on an initial group of 4000 subjects to identify genetic variants associated with case-control status and several quantitative phenotypes related to COPD. The initial findings will be verified in an additional 2000 COPD cases and 2000 smoking control subjects, and further validation association studies will be carried out.
  
  
  CONCLUSIONS
  COPDGene will provide important new information about genetic factors in COPD, and will characterize the disease process using high resolution CT scans. Understanding genetic factors and CT phenotypes that define COPD will potentially permit earlier diagnosis of this disease and may lead to the development of treatments to modify progression.
authors.affiliation: National Jewish Health, Denver, Colorado, USA. regane@njhealth.org
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Regan
authors.forename: John E
authors.initials: JE
authors.lastname: Hokanson
authors.forename: James R
authors.initials: JR
authors.lastname: Murphy
authors.forename: Barry
authors.initials: B
authors.lastname: Make
authors.forename: David A
authors.initials: DA
authors.lastname: Lynch
authors.forename: Terri H
authors.initials: TH
authors.lastname: Beaty
authors.forename: Douglas
authors.initials: D
authors.lastname: Curran-Everett
authors.forename: Edwin K
authors.initials: EK
authors.lastname: Silverman
authors.forename: James D
authors.initials: JD
authors.lastname: Crapo
mesh_terms: D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D014057:Tomography, X-Ray Computed