COPD is one of the top six leading causes of death in the United States, and of the top ten causes of death it is the only one that has been steadily increasing over the past decade. The goal of this project is to identify and correlate the genetic risk factors and phenotypic features that underlie COPD. The cohort is designed to initially be used in a cross-sectional design but is also designed for future longitudinal follow-up. The first phase of this study is a genome-wide screen using a conventional case-control design (stratified by racial groups). Subsequent confirmation of SNPs (single gene polymorphisms) yielding statistical signals will be carried out in a second phase of independent case-control analysis. Finally, we will conduct detailed analysis of genes/regions around these confirmed SNPs that appear to influence risk of COPD. We are also validating the effects of genes identified here in two external family-based populations and a large group of mild COPD cases (GOLD Stage 1). Over time, the phenotypic, pathophysiologic and genetic data collected here can be used to identify factors that control progression of COPD as these subjects are followed prospectively.
We recruited African American and non-Hispanic white men and women who have a smoking history and a COPD GOLD 1-4 diagnosis, a smoking history with no COPD, smoking unclassified subjects, and non-smoking controls. We reached our total recruitment goal of 10,000 early in 2011.
The COPDGene® Study investigates the underlying genetic factors of Chronic Obstructive Pulmonary Disease or COPD