ID
46132
Beschrijving
Principal Investigator: Edwin K. Silverman, Brigham and Women's Hospital Boston, MA USA MeSH: Chronic Obstructive Pulmonary Disease,Emphysema https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000946 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.
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- 27-11-24 27-11-24 - Dr. Christian Niklas
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Edwin K. Silverman, Brigham and Women's Hospital Boston, MA USA
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27 november 2024
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Creative Commons BY 4.0
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dbGaP phs000946 NHLBI TOPMed: Boston Early-Onset COPD Study
Eligibility Criteria
- StudyEvent: NHLBI TOPMed: Boston Early-Onset COPD Study
- Eligibility Criteria
- This subject consent data table contains subject IDs and consent group information.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, sequencing center, funding source, TOPMed phase, project, and study name.
- This subject phenotypes data table includes case control status of the subject for severe, early-onset COPD, gender, race, age (n=2 variables; age at visit and age at sample collection), smoking status (n=5 variables; current and former smoking status, number of cigarettes smoked per day, number of cigarettes smoked per day averaged over all years smoking, packs of cigarettes smoked per day multiplied by years of smoking), pregnancy status, and anthropometric factors (n=3 variables; weight, height, and BMI).
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Eligibility Criteria
- StudyEvent: NHLBI TOPMed: Boston Early-Onset COPD Study
- Eligibility Criteria
- This subject consent data table contains subject IDs and consent group information.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This sample attributes table includes body site where sample was collected, analyte type, tumor status, sequencing center, funding source, TOPMed phase, project, and study name.
- This subject phenotypes data table includes case control status of the subject for severe, early-onset COPD, gender, race, age (n=2 variables; age at visit and age at sample collection), smoking status (n=5 variables; current and former smoking status, number of cigarettes smoked per day, number of cigarettes smoked per day averaged over all years smoking, packs of cigarettes smoked per day multiplied by years of smoking), pregnancy status, and anthropometric factors (n=3 variables; weight, height, and BMI).
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C0080103 (UMLS CUI [1,2])
C1519210 (UMLS CUI [2,1])
C1517194 (UMLS CUI [3,1])
C1705242 (UMLS CUI [3,2])
C0030761 (UMLS CUI [3,3])
C0024117 (UMLS CUI [3,4])
C0205082 (UMLS CUI [1,2])
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C0004096 (UMLS CUI [1,3])
C0024117 (UMLS CUI [1,4])
C0439091 (UMLS CUI [1,2])
C0023928 (UMLS CUI [1,3])
C0332288 (UMLS CUI [1,4])
C0445204 (UMLS CUI [1,5])
C0024119 (UMLS CUI [1,6])
C0080103 (UMLS CUI [1,2])
C0332300 (UMLS CUI [1,2])
C0004096 (UMLS CUI [1,3])
C0024117 (UMLS CUI [1,4])
C0080103 (UMLS CUI [1,5])
C0439091 (UMLS CUI [1,2])
C0023928 (UMLS CUI [1,3])
C0332288 (UMLS CUI [1,4])
C0445204 (UMLS CUI [1,5])
C0024119 (UMLS CUI [1,6])
C0080103 (UMLS CUI [1,7])
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