About the Study

COPDGene is an observational study currently being conducted across 21 U.S. clinical centers aimed at investigating the underlying genetic factors of Chronic Obstructive Pulmonary Disease (COPD). Initially recruited for during the period between 2008-2011, the study seeks to gain insight as to why some smokers develop COPD whereas others do not. Though smoking has been demonstrated to play a causal role in the development of COPD, only a minority of smokers develop this debilitating disease, prompting investigation into the possible role of genetic susceptibility. Through the enrollment of over 10,000 individuals, the COPDGene study seeks to uncover inherited or genetic factors that may predispose some people to the development of COPD and use this information to develop novel therapeutic approaches to treat the disease. COPDGene also aims to better understand the disease process, and delineate between individual phenotypic variations in COPD through the use of CT imaging.

Study Highlights

  • As of February 15th 2021, there are 427 publications resulting from the COPDGene study!
  • The study is currently in the midst of Phase III, where genetic variations identified and confirmed in Phases I and II will be further investigated to identify causal genes
  • COPDGene has provided evidence supporting the increased risk for COPD among carriers for the alpha1-antitrypsin Z allele
  • COPDGene has assisted in identifying over 80 genomic regions associated with COPD, and continues to pursue the identification of novel genetic determinants
  • As a result of lung CT scans collected and analyzed throughout this study, wide agreement has been reached on the presence and extent of COPD lung features on CT images. Classification of these features will hopefully allow for a more rapid identification of the disease, and ultimately the most effective and safe treatment possible.


At this time, no additional participants are being recruited for this study. COPDGene is inviting participants back for a Phase III study visit which will take place approximately ten years after their initial visit. For some of the subjects enrolled in Phase II of the study, the Phase III visit will constitute a second visit, and will take place about five years following their first visit. Previous participants will be contacted by mail, email and/or telephone up to six months prior to when they should return for their study visit.

Learn More

For access to Phase I and Phase II study documents, FAQs, infographics, as well as a list of publications resulting from the COPDGene Project, please visit

Works Cited