Genetics of COPD

July 13 - 14, 2010
Boston, MA


Chronic obstructive pulmonary disease (COPD) is defined by the Global Initiative for Chronic Obstructive Lung Disease (GOLD) as a disease state characterized by airflow limitation that is not fully reversible. Cigarette smoking is the most important risk factor for the development of COPD. Although the dose-response relationship between cigarette smoking and pulmonary function is well-established, there is considerable variability in the reduction in FEV1 among smokers with similar smoking exposures. The low percentage of variance in pulmonary function explained by smoking suggests that there could be genetic differences in susceptibility to the effects of cigarette smoking. In addition to genetic factors, other environmental determinants such as indoor biomass smoke exposure can be important risk factors for COPD . A small percentage of COPD patients (estimated at 1-2%) inherit severe alpha-1 antitrypsin (AAT) deficiency, which proves that genetic factors can in-fluence COPD susceptibility. The discovery of AAT deficiency was a major factor in the development of the Protease-Antiprotease Hypothesis for COPD, which has been one of the prevailing models of disease pathogenesis for more than 40 years. With the substantial impact of AAT deficiency on our understanding of COPD pathogenesis, it was natural to hope that the identification of other COPD susceptibility genes would lead to similar novel insights into COPD. Until recently, however, progress in the identification of additional genetic risk factors for COPD has been slow.

To facilitate the development of such research, an international meeting of COPD genetics investigators was held on July 13-14, 2010 in Boston. The goals of the meeting were:

  • To review the current state of COPD genetics research
  • To discuss existing study populations for COPD genetics research throughout the world
  • To consider opportunities for collaborations between different COPD research groups through an International COPD Genetics Consortium
  • To recognize challenges in building COPD genetics collaborations and to discuss them openly
  • To develop a framework for future collaborative studies


Published in the Journal of Chronic Obstructive Pulmonary Disease, April 2011, Vol 8. No 2., pp 121-135


  • Create an International COPD Genetics Consortium (ICGC) - to be open worldwide to include all study populations meeting minimum criteria for size, spirometric data, and DNA availability.
  • Goals of the ICGC are to:
    • Use pooled resources to define rare and common genetic determinants of COPD
    • Identify COPD subtypes and their genetic basis
    • Develop new disease classifications for COPD
    • Foster development of new therapeutic interventions that are subtype or disease classification specific
  • Generating new GWAS/genotyping/sequencing/gene expression data
  • Expand and extend existing and ongoing genetic analysis projects
  • Plans for genetic analysis
    • Initial meta-analysis focused on common definitions of case status and on extreme phenotypes
    • Common standardized quality control approaches to clean data
    • Standard approach for data analysis
    • Separate meta-analysis for each racial and ethnic group
    • Replication in study populations not having genome-wide SNP data
  • Data sharing
    • Optimize data sharing while protecting privacy and personal health information

Workshop Participants

  • Alvar Agusti, MD, PhD
  • Wayne Anderson, PhD
  • Per S. Bakke, PhD, MD
  • Kathleen C. Barnes, PhD
  • R. Graham Barr, MD, DrPH
  • Eugene R. Bleecker, MD
  • Kristin M. Burkart, MD, MSc
  • Bartolome R. Celli, MD
  • Michael H. Cho, MD
  • William O.C. Cookson, MD, DPhil
  • James D. Crapo, MD
  • Denise Daley, PhD
  • Dawn L. DeMeo, MD, MPH
  • Judith Garcia-Aymerich, MD
  • Nadia N. Hansel, MD, MDPH
  • Craig Hersh, MD, MPH
  • Noor Kalsheker, MD
  • Woo Jin Kim, MD, PhD
  • Diether Lambrechts, MD
  • Sang-Do Lee, MD
  • Stephanie J. London, M.D., Dr.P.H
  • William MacNee, MB, ChB, MD
  • Masaharu Nishimura, MD
  • Borge G. Nørdestgaard, MD, DMSc
  • Christopher O'Donnell, M.D.
  • Edwin K. Silverman, MD, PhD
  • Yohannes Tesfaigzi, PhD
  • Martin D. Tobin, MD
  • Jørgen Vestbo, MD, DMSc
  • Claus Vogelmeier, MD
  • John W Walsh
  • Jemma B. Wilk, DSc
  • Emiel Wouters, MD, PhD
  • Robert P. Young, MD, PhD
  • Loems Ziegler-Heitbrock, MD


  • Thomas Croxton, MD, PhD
  • Weiniu Gan, PhD
  • James P. Kiley, PhD

Last Updated November 2011