title: Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys.
abstract: 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.
authors.affiliation: Respiratory Unit, Hospital Valle del Nalón, Asturias, Spain. iblanco@hvnl.insalud.es
authors.forename: I
authors.initials: I
authors.lastname: Blanco
authors.forename: E
authors.initials: E
authors.lastname: Fernández
authors.forename: E F
authors.initials: EF
authors.lastname: Bustillo
mesh_terms: D000483:Alleles; D005060:Europe; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D005843:Geography; D006801:Humans; D015201:Meta-Analysis as Topic; D010641:Phenotype; D012196:Review Literature as Topic; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin