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1-Antitrypsin deficiency · 2: Genetic aspects of 1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk
Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital, Boston, MA 02446, USA
Correspondence to:
Correspondence to:
Dr D L DeMeo
Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital, 181 Longwood Avenue, Boston, MA 02446, USA; dawn.demeo{at}channing.harvard.edu
ABSTRACT
The genetic aspects of AAT deficiency and the variable manifestations of lung disease in PI Z individuals are reviewed. The role of modifying genetic factors which may interact with environmental factors (such as cigarette smoking) is discussed, and directions for future research are presented.
Keywords: 
1-antitrypsin deficiency; chronic obstructive pulmonary disease; genetic epidemiology
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