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Study Description

This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. TOPMed is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole-genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program aims to uncover factors that increase or decrease the risk of disease, to identify subtypes of disease, and to develop more targeted and personalized treatments. Two genotype call sets derived from WGS are now available, Freeze 5b (GRCh38) and Freeze 8 (GRCh38), with largely overlapping sample sets. Information about how to identify other TOPMed WGS accessions for cross-study analysis, as well as descriptions of TOPMed methods of data acquisition, data processing and quality control, are provided in the accompanying documents, "TOPMed Whole Genome Sequencing Project - Freeze 5b, Phases 1 and 2" and "TOPMed Whole Genome Sequencing Project - Freeze 8, Phases 1-4". Please check the study list at the top of each of these methods documents to determine whether it applies to this study accession.

This is a parallel case-control pharmacogenetic study of bronchodilator drug response among African American children with and without asthma. Each participant had spirometry measured using the KoKo PFT System. Asthmatic participants were administered with 4 puffs of HFA Albuterol. Healthy participants were given a baseline spirometry test. The overall goal is to identify genetic factors which are predictive of drug response in children with asthma. The principal tools include a questionnaire and biological specimen collection. Participants were 8-21 years old at time of recruitment. Children with asthma have physician-diagnosed asthma, symptoms and medications.

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria


Subjects meeting the following criteria will be eligible for participation:

  1. Ages between 8 and 21 years old
  2. Parents and Grandparents of the same ethnicity [self-identified]
  3. History of asthma [physician diagnosed or currently taking asthma medication]
  4. Having experienced symptoms of coughing, wheezing or shortness of breath in the past 2 years
  5. No respiratory infections for ≥ 6 weeks
  6. No asthma exacerbations for ≥ 6 weeks
  7. ≤ 10 pack year smoking history, no smoking in the last year
  8. If pregnant, < 3rd trimester
  9. No other history of lung diseases

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina HiSeq X Ten N/A N/A
Study History

Time Line

  • February 2006 - First qualifying participant
  • December 2014 - Whole Genome Sequencing

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
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See research articles citing use of the data from this study
Study Attribution