Pulmonary Disease, Chronic Obstructive study with SNP/CNV Genotypes (NGS), CNV (NGS) + 1 more data on BDC (2,331 participants)

phs001472 — NHLBI TOPMed: Evaluation of COPD Longitudinally to Identify Predictive    Surrogate Endpoints (ECLIPSE)

<p>ECLIPSE was a longitudinal observational study of 2164 COPD subjects and a smaller number of smoking controls (337) and nonsmoking controls (245) followed regularly for three years, with three chest CT scans (at baseline, one year, and three years) (Vestbo et al., 2008, PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/18216052"> 18216052</a>). Subjects were enrolled at clinical centers in the US, Canada, Europe, and New Zealand. Inclusion criteria included subjects ages 40-75, at least 10 pack-years of smoking, and spirometry in GOLD grades 2-4 (COPD cases) or normal spirometry with post-bronchodilator FEV1 >85% (predicted) and FEV1/FVC>0.7 (controls). Study visits were performed at enrollment, three months, and every six months thereafter with spirometry, questionnaires, and other clinical evaluations. The ECLIPSE CT scans have been analyzed with the VIDA software for emphysema and airway phenotypes. ECLIPSE has provided key insights into the clinical epidemiology of COPD, including COPD exacerbations (Hurst, et. al., 2010, PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/20843247"> 20843247</a>) and lung function decline in COPD (Vestbo, et. al., 2011, PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/21991892"> 21991892</a>). ECLIPSE has been used in a number of genetic studies of COPD susceptibility and protein biomarkers (Faner, et. al., 2014, PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/24310110"> 24310110</a>). Genome-wide gene expression microarray data are available in 147 induced sputum samples from COPD subjects and 248 peripheral blood samples from COPD and control subjects.</p> <p>Phenotype data for ECLIPSE subjects is available through dbGaP <a href="https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001252">phs001252</a>.</p>