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Estimated numbers and prevalence of PI*S and PI*Z alleles of ₁-antitrypsin deficiency in European countries

¹ Internal Medicine Division, Respiratory Diseases Branch, Hospital Valle del Nalon, Langreo, Principado de Asturias, ³ Bio-statistics Unit, Hospital Universitario Central de Asturias, Oviedo, Principado de Asturias, and ⁴ Servei de Pneumologia, Institut Clinic del Torax, IDIBAPS, Red Respira RTIC 03/11 ISCIII, Hospital Clinic, Barcelona, Catalonia, Spain. ² Laboratory of Molecular Toxicology, Environmental Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.

CORRESPONDENCE: I. Blanco, Dept of Internal Medicine, Respiratory Diseases Branch, Hospital Valle del Nalón, 33920 Langreo, Principado de Asturias, Spain. Fax: 34 985652006. E-mail: ignacio.blanco{at}sespa.princast.es/ignablanco{at}yahoo.es

Keywords: ₁-Antitrypsin deficiency, ₁-protease inhibitor, Europe, genetic epidemiology, protease inhibitor phenotypes

Received: May 30, 2005
Accepted August 15, 2005

The current study focuses on developing estimates of the numbers of individuals carrying the two most common deficiency alleles, PI*S and PI*Z, for ₁-antitrypsin deficiency (AT-D) in Europe.

Criteria for selection of epidemiological studies were: 1) AT phenotyping performed by isoelectrofocusing or antigen–antibody crossed electrophoresis; 2) rejection of "screening studies"; 3) statistical precision factor score of 5 for Southwest, Western and Northern Europe, 4 for Central Europe, 3 for Eastern Europe; and 4) samples representative of the general population.

A total of 75,390 individuals were selected from 21 European countries (one each from Austria, Belgium, Latvia, Hungary, Serbia-Montenegro, Sweden and Switzerland; two each from Denmark, Estonia and Lithuania; three each from Portugal and the UK; four each from Finland, the Netherlands, Norway and Spain; five each from Russia and Germany; six from Poland; eight from Italy; and nine from France). The total AT-D populations of a particular phenotype in the countries selected were: 124,594 ZZ; 560,515 SZ; 16,323,226 MZ; 630,401 SS; and 36,716,819 MS. The largest number of ZZ (5,000–15,000) were in Italy, Spain, Germany, France, the UK, Latvia, Sweden and Denmark, followed by Belgium, Portugal, Serbia-Montenegro, Russia, The Netherlands, Norway and Austria (1,000–2,000), with <1,000 in each of the remaining countries.

A remarkable lack in number of reliable epidemiological studies and marked differences among these European countries and regions within a given country was also found.

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