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Richard R. Sharp,¹ Frederick de Serres,² Lee Newman,³ Robert A. Sandhaus,^4,5 John W. Walsh,⁴ Ernie Hood,⁶ and G. Jean Harry²

¹Baylor College of Medicine, Houston, Texas, USA; ²National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA; ³National Jewish Medical and Research Center, Denver, Colorado, USA; ⁴Alpha-1 Foundation, Miami, Florida, USA; ⁵AlphaNet, Miami, Florida, USA; ⁶InSight Productions, Inc., Durham, North Carolina, USA

Abstract
-1 Antitrypsin (AAT) deficiency is an inherited genetic disorder currently diagnosed in approximately 5,000 people in the United States. Although some individuals with AAT deficiency are asymptomatic, the condition often leads to deterioration of lung function in adults and is associated with emphysema, asthma, chronic obstructive pulmonary disease, and other respiratory diseases. In children, AAT deficiency can result in severe liver disease, including fatal cirrhosis in newborn infants. Although much is known about the clinical pathology of AAT deficiency, researchers are just beginning to characterize environmental, occupational, and genetic modifiers affecting the onset and progression of diseases related to AAT deficiency. On 19 August 2002, a group of basic scientists, clinicians, environmental health researchers, and public interest groups gathered at the National Institute of Environmental Health Sciences in Research Triangle Park, North Carolina, to discuss ongoing research on these topics. The goals of this workshop were to a) assess the present state of knowledge regarding environmental and occupational risk factors contributing to AAT deficiency morbidity and mortality, b) define future research needs in this area, and c) explore collaborative opportunities to advance understanding of risk factors affecting the progression of AAT deficiency-related disease. Participants agreed that new research initiatives in these areas represent an opportunity to benefit both basic science, through enhanced understanding of gene-environment interaction, and the AAT deficiency patient community, through innovative new approaches to disease management and treatment. Key words: alpha-1 antitrypsin deficiency, chronic obstructive pulmonary disease, emphysema, environmental risk factors, gene-environment interactions, genetic testing, liver disease, neutrophil elastase, occupational health. Environ Health Perspect 111:1749-1752 (2003) . doi:10.1289/ehp.6325 available via http://dx.doi.org/ [Online 23 July 2003]

Address correspondence to G.J. Harry, Laboratory of Molecular Toxicology, Environmental Toxicology Program, NIEHS, MD C1-04, P.O. Box 12233, Research Triangle Park, NC 27709 USA. Telephone: (919) 541-0927. Fax: (919) 541-0870. E-mail: harry@niehs.nih.gov

The authors declare they have no conflict of interest.

Received 10 March 2003 ; accepted 23 July 2003.