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Thorax 59:259-264 doi:10.1136/thx.2003.006502
  • Review series

α1-Antitrypsin deficiency · 2: Genetic aspects of α1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk

  1. D L DeMeo,
  2. E K Silverman
  1. Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital, Boston, MA 02446, USA
  1. 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.demeochanning.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.