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Alpha‐1‐antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys
Author(s) -
Blanco I,
Fernández E,
Bustillo EF
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.600105.x
Subject(s) - confidence interval , sample size determination , medicine , demography , isoelectric focusing , statistics , biology , mathematics , biochemistry , sociology , enzyme
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≥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.