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Building Partnerships towards a Global Approach to Genetics of Asthma and Other Lung Diseases

Executive Summary


The National Heart, Lung, and Blood Institute convened a working group on July 17-18, 2008 to bring together US investigators who have conducted genome-wide association studies (GWAS) for asthma (and closely related phenotypes) and other lung diseases to develop collaborative projects involving shared data for the advancement of asthma and other lung genome sciences. Workshop participants were expected to identify specific priority areas for collaboration and participate in developing the collaborative principles for moving this research forward. After identifying priority areas of collaboration among US investigators, the next phase would be to initiate these collaborative projects among the US investigative teams and explore globalization of these collaborative partnerships in the genetics of asthma and other lung diseases.

Recommendation for Areas of Collaboration:

  • Analysis of phenotypes
    • Cluster analysis
    • Integrating phenotypes across diseases (asthma, COPD, etc.)
  • Meta-analysis of GWAS (asthma)
  • Pooled analysis
    • Asthma, quantitative traits (total IgE, lung function, severity)
    • Parent-of-origin effects; maternal effects
    • Rare variants
    • Copy number variants
    • Functional validation for cis regulatory SNPs
  • Admixture mapping in Hispanic populations, African Americans, Costa Ricans vs. GWAS
    • Ancestry as a modifier
    • Social indicators as modifiers
    • Generalizability of risk factors
  • Interactions
    • Gene-Environment
    • Environment-Environment
    • Gene-Gene
    • Gene-Ethnicity (race)
    • Environment-Ethnicity (race)
    • Gene-Sex
  • Methodological issues re: combining samples
  • Network/Pathway approaches
  • Risk alleles and pathways shared between lung diseases (asthma, ALI, CF, COPD)
  • Pharmacogenetics

Workshop Members


  • Carole Ober , Ph.D., University of Chicago
  • Scott T. Weiss, M.D., M.S., Brigham and Women's Hospital


  • Kathleen Barnes, Ph.D., Johns Hopkins University
  • Eugene Bleecker, M.D., Wake Forest University
  • Esteban G. Burchard, M.D., M.P.H., University of California , San Francisco
  • Jason Christie, M.D., M.S., University of Pennsylvania School of Medicine
  • Garry Cutting, M.D., Johns Hopkins University
  • William James Gauderman, Ph.D., University of Southern California
  • Frank Gilliland, M.D., Ph.D., University of Southern California
  • Hakon Hakonarson, M.D., Ph.D., Children's Hospital of Philadelphia
  • Michael Knowles, M.D., University of North Carolina , Chapel Hill
  • Stephanie London, M.D., Dr. Ph., National Institute of Environmental Health Sciences
  • Fernando D. Martinez, M.D., University of Arizona
  • Deborah A. Meyers, Ph.D., Wake Forest University
  • Dan Nicolae, Ph.D., University of Chicago
  • Benjamin Raby, M.D., Brigham and Women's Hospital
  • Edwin Silverman, M.D., Ph.D., Brigham and Women's Hospital
  • Marsha Wills-Karp, Ph.D., Cincinnati Children's Hospital Medical


  • Susan Banks-Schlegel, Ph.D., Division of Lung Diseases
  • Weiniu Gan, Ph.D., Division of Lung Diseases
  • James P. Kiley, Ph.D., Division of Lung Diseases

August 2008

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