HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Related articles in Proceedings of the American Thoracic Society Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Google Scholar Articles by Hersh, C. P. Articles by Silverman, E. K. PubMed PubMed Citation Articles by Hersh, C. P. Articles by Silverman, E. K.

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

Related articles in Proceedings of the American Thoracic Society:

Pathogenesis of Emphysema: From the Bench to the Bedside

Amir Sharafkhaneh, Nicola A. Hanania, and Victor Kim
Proceedings of the American Thoracic Society 2008 5: 475-477. [Abstract] [Full Text]  

This article has been cited by other articles:

				A. Sharafkhaneh, N. A. Hanania, and V. Kim Pathogenesis of Emphysema: From the Bench to the Bedside Proceedings of the ATS, May 1, 2008; 5(4): 475 - 477. [Abstract] [Full Text] [PDF]