NHLBI TOPMed: Boston Early-Onset COPD Study

Chronic obstructive pulmonary disease (COPD) is the third leading cause of death in the United States and the only leading cause of death that is steadily increasing in frequency. This project collected a set of extended pedigrees ascertained through subjects with severe, early-onset COPD. This study has enrolled subjects with severe COPD (forced expiratory volume in one second (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 candidate gene association analysis. Approximately 80 of the severe, early-onset COPD probands will undergo whole genome sequencing in this project with sequencing data available through dbGaP.]]>
TOPMed Whole Genome Sequencing Methods: Freeze 9TOPMed Whole Genome Sequencing Methods: Freeze 10COPD Probands: Inclusion Criteria Age at Enrollment: < 53 years Pre-bronchodilator FEV1 ≤ 40% (predicted) Physician-diagnosed COPD Exclusion Criteria Severe alpha-1 antitrypsin deficiency Concomitant respiratory disorder other than asthma or COPD (such as, but not limited to, diffuse bronchiectasis, cystic fibrosis, or interstitial lung disease) Lung surgery with removal of a lobe or more (including lung volume reduction surgery or lung transplantation) unless preoperative pulmonary function tests are available Relatives of EOCOPD Probands Inclusion Criteria Age at enrollment: 10 years or greater First or second-degree relative of an EOCOPD proband, or first-degree relative of another affected pedigree member Exclusion Criteria Severe alpha-1 antitrypsin deficiency Concomitant respiratory disorder other than asthma or COPD (such as, but not limited to, diffuse bronchiectasis, cystic fibrosis, or interstitial lung disease) Lung surgery with removal of a lobe or more (including lung volume reduction surgery or lung transplantation) unless preoperative pulmonary function tests are available ]]>
The Boston Early-Onset COPD was started in 1994 in an effort to find genetic determinants of COPD other than alpha-1 antitrypsin deficiency. This study has been funded by a series of grants from the NHLBI, most recently by R01 HL113264 (MPIs: Edwin K. Silverman and Michael H. Cho) and by an administrative supplement to R01 HL089856 (PI: Edwin K. Silverman).]]>