My NCBI Sign In
Jump to: Authorized Access | Attribution | Authorized Requests

Study Description

Chronic obstructive pulmonary disease (COPD) is the fourth leading cause of death in the United States and the only leading cause of death that is steadily increasing in frequency. This project will establish a racially diverse cohort that is sufficiently large and appropriately designed for genome-wide association analysis of COPD. A total of 10,000 subjects will be recruited, including control smokers, definite COPD cases (GOLD Stage 2 to 4), and subjects not included in either group (GOLD 1 or GOLD-Unclassified). This cohort will be used for cross-sectional analysis, although long-term longitudinal follow-up will be a future goal. The primary focus of the study will be genome-wide association analysis to identify the genetic risk factors that determine susceptibility for COPD and COPD-related phenotypes. Detailed phenotyping of both cases and controls, including chest CT scan assessment of emphysema and airway disease, will allow identification of genetic determinants for the heterogeneous components of the COPD syndrome. The hypotheses to be studied are: 1) Precise phenotypic characterization of COPD subjects using computed tomography, as well as clinical and physiological measures, will provide data that will enable the broad COPD syndrome to be decomposed into clinically significant subtypes. 2) Genome-wide association studies will identify genetic determinants for COPD susceptibility that will provide insight into clinically relevant COPD subtypes. 3) Distinct genetic determinants influence the development of emphysema and airway disease. The initial phase of genome-wide association analysis included 500 COPD cases and 500 control subjects (all non-Hispanic White) genotyped with the Illumina Omni-1 chip, but plans are being developed to obtain genome-wide association analysis on the entire study cohort (using the Illumina Omni-Express chip). Unique aspects of the study include: 1) Inclusion of large numbers of African American subjects (approximately 1/3 of the cohort); 2) Obtaining chest CT scans (including inspiratory and expiratory images); and 3) Inclusion of the full range of disease severity.

The COPDGene Cohort is utilized in the following dbGaP sub-study. To view genotypes, other molecular data, and derived variables collected in these sub-study, please click on the following sub-study below or in the "Sub-studies" box located on the right hand side of this top-level study page phs000179 COPDGene Cohort.

  • Study Weblink: COPDGene
  • Study Type: Case-Control
  • Number of study subjects that have individual level data available through Authorized Access: 10364

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

COPD Cases:

Inclusion Criteria

  • Age 45-80 years
  • Smoking history of ≥ 10 pack-years
  • Diagnosis of COPD Stages 2, 3 and 4 by GOLD criteria (post-bronchodilator FEV1/FVC < 0.70 and FEV1 < 80% predicted)
  • Non-Hispanic White or non-Hispanic African American

Exclusion Criteria

  • Concomitant respiratory disorder other than asthma or COPD (such as, but not limited to, diffuse bronchiectasis, cystic fibrosis, or interstitial lung disease)
  • Lung surgery with removal of a lobe or more (including lung volume reduction surgery or lung transplantation)
  • Lung cancer, known or suspected
  • Surgical or bronchoscopic lung volume reduction
  • Pregnancy or suspected pregnancy
  • Uncontrolled cancer, defined as ongoing radiation therapy, ongoing chemotherapy, narcotics for pain control, or known metastatic disease
  • History of radiation therapy to the chest (other than for breast cancer)
  • Use of antibiotics and/or systemic steroids (new prescription or increased dose) for a COPD exacerbation or respiratory infection within the last month
  • Inability to use albuterol
  • First or second degree relative (parent, brother, sister, daughter, son, aunt, uncle, nephew, niece, half-sibling, grandparent, grandchild) of a subject enrolled in COPDGene™
  • Subjects who indicate they are in more than one racial category
  • Metal objects that may interfere with chest CT quantification including presence of a cardiac pacemaker, defibrillator, metal prosthetic heart valve, or metal shoulder prosthesis
  • Subjects with affirmative answers to the following:
    • chest or abdominal surgery in the past three months
    • a heart attack in the last three months
    • detached retina or eye surgery in the past three months
    • hospitalization for any other heart problem in the past month
  • Participation in the ECLIPSE study, Boston Early-Onset COPD Study, or International COPD Genetics Network (Selected replication cohorts)

Smokers without COPD:

Inclusion Criteria

  • Age 45-80 years
  • History (current or formerly) of cigarette smoking ≥ 10 pack-years
  • Post-bronchodilator FEV1/FVC ≥ 0.70 and FEV1 > 80% predicted)
  • Non-Hispanic White or non-Hispanic African American

Exclusion Criteria

  • Physician diagnosed respiratory disease other than COPD or asthma (based on subject report)
  • Lung surgery with removal of a lobe or more (including lung volume reduction surgery and lung transplantation)
  • Uncontrolled cancer, defined as ongoing radiation therapy, ongoing chemotherapy, narcotics for pain control, or known metastatic disease
  • History of radiation therapy to the chest
  • Use of antibiotics (new prescription or increased dose) for a respiratory infection within the past month
  • Use of systemic corticosteroids (new prescription or increased dose) for a respiratory process within the past month
  • Inability to use albuterol
  • First or second degree relative (parent, brother, sister, daughter, son, aunt, uncle, nephew, niece, half-sibling, grandparent, or grandchild) of a subject enrolled in COPDGene
  • Subjects who indicate they are in more than one racial category
  • Metal objects that may interfere with chest CT quantification including presence of a cardiac pacemaker, defibrillator, metal prosthetic heart valve, or metal shoulder prosthesis
  • Subjects with affirmative answers to the following:
    • chest or abdominal surgery in the past three months
    • a heart attack in the last three months
    • detached retina or eye surgery in the past three months
    • hospitalization for any other heart problem in the past month
  • Participation in the ECLIPSE study, Boston Early-Onset COPD Study, or International COPD Genetics Network (Selected replication cohorts)

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanOmni1-Quad_v1-0_B 1051295 1049033
Study History

This study was funded by the NHLBI in October 2007 as two U01 grants-one to National Jewish Medical and Research Center (PI: James D. Crapo) and one to Brigham and Women's Hospital (PI: Edwin K. Silverman). After a pilot study in 2007, study recruitment began in February 2008 at 21 clinical centers throughout the United States.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Authorized Data Access Requests
Study Attribution
  • Principal Investigators
    • James D. Crapo. National Jewish Health, Denver, CO, USA
    • Edwin K. Silverman. Brigham and Women's Hospital, Boston, MA, USA
  • Institute
    • National Heart, Lung and Blood Institute, Bethesda, MD, USA
  • Funding Source
    • U01HL089897. National Institutes of Health, Bethesda, MD, USA
    • U01HL089856. National Institutes of Health, Bethesda, MD, USA