We anticipate that COPDGene will generate a unique, large cohort of well-phenotyped subjects for COPD research. The high level of phenotypic characterization will provide a valuable resource for studies into the genetics, epidemiology, and natural history of COPD. Two recent genome-wide studies of COPD have identified SNPs in proximity to the hedgehog-interacting protein (HHIP) 17;18. The study by Wilk et al was general population-based, and their association of HHIP was to FEV1/FVC rather than to COPD specifically. Pillai et al in addition to the association with HHIP also found two SNPs in a genomic region containing the α-nicotinic acetylcholine receptor (CHRNA 3/5) that associated strongly with COPD in a case-control design, and associated with lung function as well. These valuable studies do not exclude the need for further GWAS studies in COPD. COPDGene has several strengths for future work including: a larger sample size, a substantial African American population and plans to perform replication studies on a larger number of SNPs than Pillai et al.
