Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys

Clin Genet. 2001 Jul;60(1):31-41. doi: 10.1034/j.1399-0004.2001.600105.x.


The objective of the present study was to review published surveys on allelic frequencies S and Z in European populations to evaluate the validity of the reported data. More than a hundred studies on the topic, published since 1965 until 2000, were retrieved by Medline, Index Medicus and bibliographic references consultation. The criteria for studies selection were: 1) sample size> or =250 individuals; 2) alpha-1-antitrypsin phenotype determination performed by means of crossed antigen-antibody or isoelectric focusing in polyacrylamide gels; 3) PI type determination performed without any previous screening procedure; 4) S and Z 95% confidence interval (CI) of the reported outcomes with a calculated coefficient of variation <42.3 for S and <95.8 for Z; 5) S and Z 95% CI of the reported outcomes comprised within 95% CI limits of comparative hypothetical surveys designed with the same sample size of the questioned surveys and the highest/lowest frequencies accepted for a specific area, according to the figures of isogen boundary maps. Seventy studies comply with the five established criteria for analysis. According to the data of the selected studies, a geographical distribution on S and Z gene frequencies in Europe is proposed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Europe
  • Gene Frequency
  • Genetics, Population
  • Genotype
  • Geography
  • Humans
  • Meta-Analysis as Topic
  • Phenotype
  • Review Literature as Topic
  • alpha 1-Antitrypsin / genetics*


  • alpha 1-Antitrypsin