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National Emphysema Treatment Trial State of the Art

Genetics of Emphysema

¹ Channing Laboratory, Center for Genomic Medicine, and Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts

Correspondence and requests for reprints should be addressed to Craig P. Hersh, M.D., M.P.H., Channing Laboratory, 181 Longwood Avenue, Boston, MA 02115. E-mail: craig.hersh{at}channing.harvard.edu

ABSTRACT

Although a hereditary contribution to emphysema has been long suspected, severe ₁-antitrypsin deficiency remains the only conclusively proven genetic risk factor for chronic obstructive pulmonary disease (COPD). Recently, genome-wide linkage analysis has led to the identification of two promising candidate genes for COPD: TGFB1 and SERPINE2. Like multiple other COPD candidate gene associations, even these positionally identified genes have not been universally replicated across all studies. Differences in phenotype definition may contribute to nonreplication in genetic studies of heterogeneous disorders such as COPD. The use of precisely measured phenotypes, including emphysema quantification on high-resolution chest computed tomography scans, has aided in the discovery of additional genes for clinically relevant COPD-related traits. The use of computed tomography scans to assess emphysema and airway disease as well as newer genetic technologies, including gene expression microarrays and genome-wide association studies, has great potential to detect novel genes affecting COPD susceptibility, severity, and response to treatment.

Key Words: ₁-antitrypsin deficiency • chronic obstructive pulmonary disease • genetic linkage • single-nucleotide polymorphism

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