© 2004 BMJ Publishing Group Ltd & British Thoracic Society
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1-ANTITRYPSIN DEFICIENCY IN THORAX
COPD is caused by complicated interactions between environmental and genetic factors. One of the best characterised genetic conditions is deficiency of 1-antitrypsin (AAT) and, although COPD associated with AAT deficiency is rare, study of AAT has provided useful information on the pathogenesis of emphysema. In this month’s Thorax we publish three articles on issues relating to AAT deficiency. Hersh and colleagues address the question of whether heterozygotes for AAT deficiency are at risk of COPD. In a meta-analysis of studies of outcome in Pi MZ heterozygous individuals, the results indicate that case-control studies showed increased odds ratios for COPD risk, but this finding was not confirmed in cross sectional studies. Generally, included studies have been small and cigarette smoking may be an important confounder accounting for variability in results. In the accompanying editorial Seersholm points out that, in the Copenhagen City Heart Study, 450 Pi MZ subjects have been identified.
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