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The Proceedings of the American Thoracic Society 6:539-542 (2009)
© 2009 The American Thoracic Society
doi: 10.1513/pats.200904-021DS
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Genetics and Genomics of Chronic Obstructive Pulmonary Disease

Edwin K. Silverman1,2, Avrum Spira3 and Peter D. Paré4

1 Channing Laboratory, and 2 Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts; 3 Division of Pulmonary and Critical Care Medicine, Translational Bioinformatics Program, Clinical and Translational Science Institute, Boston University, Boston, Massachusetts; and 4 James Hogg iCAPTURE Centre for Cardiovascular and Pulmonary Research and the Department of Medicine, St. Paul's Hospital, University of British Columbia, Vancouver, British Columbia, Canada

Correspondence and requests for reprints should be addressed to Peter D. Paré, M.D., UBC James Hogg iCAPTURE Centre for Cardiovascular and Pulmonary Research, St. Paul's Hospital, 1081 Burrard Street, Vancouver, BC, V6Z 1Y6 Canada. E-mail: ppare{at}mrl.ubc.ca

ABSTRACT

Chronic obstructive pulmonary disease (COPD) fulfills criteria for a complex genetic disease in which environmental factors interact with multiple polymorphic genes to influence susceptibility. Finding the genes that influence susceptibility can be approached in hypothesis testing or unbiased study designs. In candidate gene association studies, genetic variation in, and/or levels of, expression of genes known or suspected to be involved in the pathogenesis of COPD are compared in affected and unaffected individuals. Although this approach is useful it is limited by our present knowledge of disease pathophysiology. Genomewide studies of gene expression and of genetic variation are now possible and are not constrained by our limited knowledge. Although both of these unbiased approaches are in their infancy, they have already provided exciting new avenues for future investigation and potentially now approaches to risk prediction and therapy.

Key Words: chronic obstructive pulmonary disease • genetics • genomics






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