NHLBI TOPMed - NHGRI CCDG: Genes-Environments and Admixture in Latino Asthmatics (GALA II)

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 9b (GRCh38) and Freeze 10b (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 9b, Phases 1-4" and "TOPMed Whole Genome Sequencing Project - Freeze 10b, Phases 1-8". 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 case-only pharmacogenetic study of bronchodilator drug response among racially admixed Latino children with asthma. Each participant had two spirometry measurements using the KoKo PFT System. With the first spirometry test, participant was administered with 4 puffs of HFA Albuterol. The second albuterol measurement was based on age, for participants under 16 years of age, additional 2 puffs were administered and for those over 16 years of age, additional 4 puffs were administered. 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 are 8-21 years old at time of recruitment. Children with asthma have physician-diagnosed asthma, symptoms and medications.

Comprehensive phenotypic data for GALAII study participants are available through dbGaP phs001180.

• Study Weblinks:
  • Study Populations and Research Staff
• Study Design:
  • Case Set
• Study Type:
  • Case Set
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 4860
• Subject Sample Telemetry Report (SSTR)

• BioProject
• PubMed

Eligibility

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

Time Line

• February 2006 - First qualifying participant
• Spring 2013 - Genome Wide Association Study completed
• December 2014 - Whole Genome Sequencing

• Primary Phenotype: Lung Diseases

• Principal Investigator
  • Esteban Burchard, MD, MPH. University of California, San Francisco, CA, USA.
• Funding Source
  • 1R01HL117004-03. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
• Sequencing Center
  • New York Genome Center, New York, NY, USA.