Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency.

In the last 40 years, following the publication of the seminal paper by Laurell and Eriksson, there have been significant advances in the understanding of genetic abnormalities related to α1-antitrypsin (AAT) deficiency and of the pathophysiology of the associated lung and liver diseases. During the same period, data from a number of genetic epidemiology surveys have been accumulated. As a result, we now have a fairly comprehensive picture of the distribution of AAT deficiency, especially in developed countries, and some soundly based hypotheses about AAT gene evolution, the origin of AAT deficiency, and its spread. This paper reviews the available data on the genetic epidemiology of AAT deficiency. A preliminary discussion on the protein and molecular characteristics of AAT variants provide a background to facilitate a better understanding of the nomenclature and epidemiology data discussed.