Literature DB >> 11846735

Distribution of alpha1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis.

I Blanco1, E F Bustillo, M C Rodriguez.   

Abstract

The objective of the present study was to review published surveys on allelic frequencies S and Z in countries outside Europe to evaluate the validity of the reported data. Studies on the topic, published from 1965 to May 2001, were retrieved using MEDLINE and bibliographic reference consultations. The criteria for the selection of the studies were the following: 1) sample size >or=250 individuals; 2) alpha1-antitrypsin phenotype determination performed by means of crossed antigen-antibody, isoelectric focusing in polyacrylamide gels, or polymerase chain reaction (PCR); 3) PI type determination performed without any previous screening procedure; 4) S and Z 95% CI of the reported outcomes within the limits of a calculated coefficient of variation. Forty-three out of 85 studies comply with the established criteria for being analysed. Worldwide maps of geographical distributions of PI S and PI Z frequencies have been designed by the authors by adding the data provided by these 43 selected studies to the 70 reported in a recent European meta-analysis.

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Year:  2001        PMID: 11846735     DOI: 10.1034/j.1399-0004.2001.600605.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  10 in total

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Authors:  Marcin P Kaczor; Marek Sanak; Andrew Szczeklik
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Review 2.  Protein misfolding and the serpinopathies.

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3.  Hidden burden of osteoporosis in alpha-1 antitrypsin deficiency.

Authors:  Emanuela Filipas; Iain Southern; Pooja Khanna; Ritwik Banerjee
Journal:  BMJ Case Rep       Date:  2018-06-27

Review 4.  Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis.

Authors:  C P Hersh; M Dahl; N P Ly; C S Berkey; B G Nordestgaard; E K Silverman
Journal:  Thorax       Date:  2004-10       Impact factor: 9.139

Review 5.  Chronic obstructive pulmonary disease in Hispanics.

Authors:  John M Brehm; Juan C Celedón
Journal:  Am J Respir Crit Care Med       Date:  2007-11-20       Impact factor: 21.405

6.  Cardiovascular and musculskeletal co-morbidities in patients with alpha 1 antitrypsin deficiency.

Authors:  James M Duckers; Dennis J Shale; Robert A Stockley; Nichola S Gale; Bronwen A J Evans; John R Cockcroft; Charlotte E Bolton
Journal:  Respir Res       Date:  2010-12-07

Review 7.  Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis.

Authors:  Jennifer A Dickens; David A Lomas
Journal:  Drug Des Devel Ther       Date:  2011-08-17       Impact factor: 4.162

8.  Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide.

Authors:  Ignacio Blanco; Patricia Bueno; Isidro Diego; Sergio Pérez-Holanda; Beatriz Lara; Francisco Casas-Maldonado; Cristina Esquinas; Marc Miravitlles
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2017-06-08

9.  Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update.

Authors:  Ignacio Blanco; Patricia Bueno; Isidro Diego; Sergio Pérez-Holanda; Francisco Casas-Maldonado; Cristina Esquinas; Marc Miravitlles
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2017-02-13

10.  A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.

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Journal:  PLoS One       Date:  2012-12-12       Impact factor: 3.240

  10 in total

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