Genetic epidemiology of copd (copdgene) study design
Open accessAbstract
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. METHODS/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.
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COPDGene contains chest CT scans of more than 10,000 individuals for chronic obstructive pulmonary disease (COPD).
“COPDGene as one example in lung datasets contains chest CT scans of more than 10,000 individuals for chronic obstructive pulmonary disease (COPD).”
From A review of deep learning-based deformable medical image registration (2022) · cites this paper as [47]
The Abstract’s Methods/Results section says COPDGene planned to enroll 10,000 smokers, with and without COPD, and obtain chest CT scans from all participants. It does not establish that the dataset already contained scans from more than 10,000 individuals. (LLM, conf=0.90)
Experimental — accuracy not yet measuredMore than 375 publications have used COPDGene to explore assessment and identify biomarkers of COPD since 2009.
“More than 375 publications have used COPDGene to explore the assessment and identify the biomarkers of COPD since 2009”
From A review of deep learning-based deformable medical image registration (2022) · cites this paper as [47]
The Conclusion (page unavailable) says COPDGene’s CT phenotyping may generate diagnostic imaging biomarkers, and its data will be available for future studies. The paper does not report that more than 375 publications have used COPDGene since 2009; it describes those uses as prospective. (LLM, conf=0.87)
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Research works printed but not linked: 18
- [1]Hoyert DL Arias E Smith BL Deaths: final data for 1999 Natl Vital Stat Rep 2001 49 8 1 113 11591077
- [2]Mannino DM Homa DM Akinbami LJ Chronic obstructive pulmonary disease surveillance--United States, 1971–2000 MMWR Surveill Summ 2002 51 6 1 16 12198919
- [3]Mannino DM Buist AS Global burden of COPD: risk factors, prevalence, and future trends Lancet 2007 370 9589 765 73 17765526
- [4]Friedlander AL Lynch D Dyar LA Phenotypes of chronic obstructive pulmonary disease COPD 2007 4 4 355 84 18027163
- [5]Silverman EK Exacerbations in chronic obstructive pulmonary disease: do they contribute to disease progression? Proc Am Thorac Soc 2007 4 8 586 90 18073387 PMC2647649
- [6]Lokke A Lange P Scharling H Developing COPD: a 25 year follow up study of the general population Thorax 2006 61 11 935 9 17071833 PMC2121175
- [7]Kueppers F Miller RD Gordon H Familial prevalence of chronic obstructive pulmonary disease in a matched pair study Am J Med 1977 63 3 336 42 302643
- [8]Cohen BH Ball WC Jr Brashears S Risk factors in chronic obstructive pulmonary disease (COPD) Am J Epidemiol 1977 105 3 223 32 300564
- [9]McCloskey SC Patel BD Hinchliffe SJ Siblings of patients with severe chronic obstructive pulmonary disease have a significant risk of airflow obstruction Am J Respir Crit Care Med 2001 164 8 Pt 1 1419 24 11704589
- [10]Silverman EK Chapman HA Drazen JM Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis Am J Respir Crit Care Med 1998 157 6 Pt 1 1770 8 9620904
- [11]Hersh CP DeMeo DL Reilly JJ Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgery Respir Res 2007 8 59 17686149 PMC2048957
- [12]DeMeo DL Hersh CP Hoffman EA Genetic determinants of emphysema distribution in the national emphysema treatment trial Am J Respir Crit Care Med 2007 176 1 42 8 17363767 PMC2049064
- [13]Hersh CP Demeo DL Lazarus R Genetic association analysis of functional impairment in chronic obstructive pulmonary disease Am J Respir Crit Care Med 2006 173 9 977 84 16456143 PMC2662917
- [14]Gottlieb DJ Wilk JB Harmon M Heritability of longitudinal change in lung function. The Framingham study Am J Respir Crit Care Med 2001 164 9 1655 9 11719305
- [15]Hoffman EA Simon BA McLennan G State of the Art. A structural and functional assessment of the lung via multidetector-row computed tomography: phenotyping chronic obstructive pulmonary disease Proc Am Thorac Soc 2006 3 6 519 32 16921136 PMC2647643
- [16]Van Steen K McQueen MB Herbert A Genomic screening and replication using the same data set in family-based association testing Nat Genet 2005 37 7 683 91 15937480
- [17]Pillai SG Ge D Zhu G A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci PLoS Genet 2009 5 3 e1000421 19300482 PMC2650282
- [18]Wilk JB Chen TH Gottlieb DJ A genome-wide association study of pulmonary function measures in the Framingham Heart Study PLoS Genet 2009 5 3 e1000429 19300500 PMC2652834
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- Authors
- Regan, E. A., Hokanson, J. E., Murphy, J. R., Make, B., Lynch, D. A., Beaty, T. H., Curran-Everett, D., Silverman, E. K., & Crapo, J. D.
- Affiliations
- National Jewish Health (US)
- University of Colorado Denver (US)
- Johns Hopkins University (US)
- Brigham and Women's Hospital (US)
- ORCID
- Venue
- COPD: Journal of Chronic Obstructive Pulmonary Disease
- Publisher
- Informa UK Limited
- Published
- 2010-03-09
- Volume
- 7
- Issue
- 1
- Pages
- 32-43
- ISSN
- 1541-2555 (ISSN-L)
- 1541-2563
- PMC
- PMC2924193
- OpenAlex
- W2082907106
- Cited by
- 1,313
- References
- 0
- Citations by year
- 2026: 68 · 2025: 87 · 2024: 111 · 2023: 111 · 2022: 89 · 2021: 113 · 2020: 107 · 2019: 106 · 2018: 107 · 2017: 79 · 2016: 76 · 2015: 74 · 2014: 66 · 2013: 49 · 2012: 34
- FWCI
- 31.21
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- COPD Journal of Chronic Obstructive Pulmonary Disease (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Heart, Lung, and Blood Institute (U01HL089856, U01HL089897)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Chronic Obstructive Pulmonary Disease (COPD) Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Physiology › Smoking Behavior and Cessation
- Keywords
- chronic obstructive pulmonary disease, COPDGene, genetic susceptibility, genome-wide association study, emphysema, airway wall thickening, air trapping, COPD subtypes, smokers, African American participants, longitudinal cohort
- MeSH terms
- Female, Humans, Male, Tomography, X-Ray Computed, Cohort Studies, Case-Control Studies, Genetic Predisposition to Disease, Pulmonary Disease, Chronic Obstructive, Genome-Wide Association Study
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