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Updated: Jun 15, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic epidemiology of COPD (COPDGene) study design
Elizabeth A Regan1, John E Hokanson, James R Murphy
1National Jewish Health, Denver, Colorado, USA. regane@njhealth.org
COPD
|March 11, 2010
Summary
The COPDGene study identifies genetic factors and CT scan phenotypes in Chronic Obstructive Pulmonary Disease (COPD). This research aims for earlier diagnosis and novel treatments for COPD.
Area of Science:
- Pulmonary Medicine
- Genetics
- Radiology
Background:
- COPDGene is a multicenter observational study focused on identifying genetic factors in Chronic Obstructive Pulmonary Disease (COPD).
- The study also characterizes chest CT phenotypes, including emphysema, gas trapping, and airway wall thickening.
- COPD subtypes based on CT phenotypes will be used for genome-wide association studies to find COPD susceptibility genes.
Purpose of the Study:
- To identify genetic factors associated with COPD.
- To characterize CT phenotypes in COPD subjects.
- To discover COPD susceptibility genes through genome-wide association studies.
Main Methods:
- Enrollment of 10,000 smokers with and without COPD across GOLD stages, including Non-Hispanic white and African-American participants.
- Acquisition of inspiratory and expiratory chest CT scans for all participants.
- Genome-wide association study (GWAS) on 4000 subjects, with verification in additional cohorts, to identify genetic variants linked to COPD status and phenotypes.
Main Results:
- The study is designed to identify genetic variants associated with COPD case-control status.
- Quantitative phenotypes related to COPD will be analyzed using GWAS.
- Initial findings from GWAS will be validated in larger COPD and control cohorts.
Conclusions:
- COPDGene will yield crucial insights into the genetic underpinnings of COPD.
- High-resolution CT scans will be used to characterize the COPD disease process.
- Understanding genetic factors and CT phenotypes may enable earlier COPD diagnosis and treatments to modify disease progression.
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