Boston Early-Onset COPD Study enrolls subjects with severe COPD (FEV1 < 40% predicted) at an early age ( < 53 years) without alpha-1 antitrypsin deficiency (a known Mendelian risk factor for COPD). Extended pedigrees are enrolled, primarily in New England, although some more geographically distant subjects have been included. This study has been used for epidemiological studies, familial aggregation analysis, linkage analysis, and association analysis. DNA methylation studies have been performed in a subset of subjects. Whole exome or whole genome sequences have been obtained in more than 700 members of these pedigrees.
This study enrolled sibships through a COPD proband at 10 clinical centers in the U.S. and Europe. This study has been used for epidemiological studies and association analysis. DNA methylation studies have been performed in a subset of subjects. We have received NIH funding to obtain whole genome sequences in more than 300 members of these pedigrees.
NETT was a randomized clinical trial comparing lung volume reduction surgery to usual medical care. We received DNA samples from approximately 400 NETT participants. This study has been used for candidate gene and genome-wide association studies.
NAS is a longitudinal study of more than 1,500 men who have been followed for more than 30 years. Genome-wide SNP genotyping was obtained on 400 healthy smoking controls. Multiple longitudinal biological samples have been collected in this population, which has regular health assessments, including spirometry and other clinical tests. This study has been used for epidemiological studies and candidate gene association studies.
We have collaborated closely with investigators in Norway on the GENKOLS study of COPD. This study has been used for epidemiological analysis, candidate gene association studies, and genome-wide association studies.
ECLIPSE is a longitudinal study of COPD subjects and a small number of smoking control subjects that were followed regularly for 3 years, including 3 chest CT scans. This study has been used for epidemiological analyses and genome-wide association studies. Through the TOPMed program of the NHLBI, whole genome sequencing is being performed on the ECLIPSE COPD cases and controls.
Severe COPD cases and healthy control subjects were enrolled in both Poland and Korea for genetic studies.
This is a large population of more than 10,000 smokers (1/3 African American and 2/3 non-Hispanic White) with chest CT scans and genome-wide SNP genotyping data. COPDGene study has been used for epidemiological analysis and genome-wide association studies. Whole genome sequencing has been obtained on more than 10,000 subjects, and whole blood RNA-Seq and DNA methylation are being obtained on thousands of subjects.