Prevalence of a1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review

被引：156
作者：
de Serres, Frederick J. [1 ]
Blanco, Ignacio [2 ]
机构：
[1] NIEHS, Ctr Evaluat Risks Human Reprod, Natl Toxicol Program, Res Triangle Pk, NC 27709 USA
[2] Biomed Res Off OIB FICYT, Oviedo, Spain
来源：
THERAPEUTIC ADVANCES IN RESPIRATORY DISEASE | 2012年 / 6卷 / 05期
关键词：
alpha 1-antitrypsin deficiency; PI subtypes; PI phenotypes; genetic epidemiology; SERPINA1;
D O I：
10.1177/1753465812457113
中图分类号：
R56 [呼吸系及胸部疾病];
学科分类号：
摘要：
Genetic epidemiological studies on the prevalence and numbers of individuals with alpha 1-antitrypsin deficiency in each of 97 countries worldwide were used to estimate the numbers in each of the five following phenotypic classes: PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ. These 97 countries were then grouped into 10 major geographic regions to make it possible to compare the numbers in each of these five phenotypic classes in immediately adjacent countries. Such groupings also make it possible to review the spread of the PI*S and PI*Z alleles from one major geographic grouping to another in the world as well as the spread of these two deficiency alleles within a major geographic region. The data in the 10 tables on the numbers in each of the five phenotypic classes in the countries in the same geographic region as well as the prevalence of the PI*S and PI*Z alleles in countries in the same geographic region provide a novel database for the identification of large numbers of individuals in a given phenotypic class. The database also provides useful information for the identification of countries with high numbers of PI*ZZ individuals for augmentation therapy within a given geographic region.
引用
收藏
页码：277 / 295
页数：19
相关论文
共 28 条
[1]   PI*S and PI*Z alpha 1-antitrypsin deficiency:: estimated prevalence and number of deficient subjects in Spain [J].
Blanco, I ;
Fernández-Bustillo, E ;
de Serres, FJ ;
Alkassam, D ;
Menéndez, CR .
MEDICINA CLINICA, 2004, 123 (20) :761-765
[2]   α1-antitrypsin Pi phenotypes S and Z in Spain:: an analysis of the published surveys [J].
Blanco, I ;
Fernández, E .
RESPIRATORY MEDICINE, 2001, 95 (02) :109-114
[3]   Estimated numbers and prevalence of PI*S and PI*Z alleles of α-antitrypsin deficiency in European countries [J].
Blanco, I ;
de Serres, FJ ;
Fernandez-Bustillo, E ;
Lara, B ;
Miravitlles, M .
EUROPEAN RESPIRATORY JOURNAL, 2006, 27 (01) :77-84
[4]   Distribution of α1-antitrypsin PI S and PI Z frequencies in countries outside Europe:: a meta-analysis [J].
Blanco, I ;
Bustillo, EF ;
Rodriguez, MC .
CLINICAL GENETICS, 2001, 60 (06) :431-441
[5]   Alpha-1-antitrypsin PI phenotypes S and Z in Europe:: an analysis of the published surveys [J].
Blanco, I ;
Fernández, E ;
Bustillo, EF .
CLINICAL GENETICS, 2001, 60 (01) :31-41
[6]  
BRANTLY M, 1988, AM J MED, V84, P13
[7]   CLINICAL-FEATURES AND HISTORY OF THE DESTRUCTIVE LUNG-DISEASE ASSOCIATED WITH ALPHA-1-ANTITRYPSIN DEFICIENCY OF ADULTS WITH PULMONARY SYMPTOMS [J].
BRANTLY, ML ;
PAUL, LD ;
MILLER, BH ;
FALK, RT ;
WU, M ;
CRYSTAL, RG .
AMERICAN REVIEW OF RESPIRATORY DISEASE, 1988, 138 (02) :327-336
[8]   The prevalence of alpha-1 antitrypsin deficiency in Ireland [J].
Carroll, Tomas P. ;
O'Connor, Catherine A. ;
Floyd, Olwen ;
McPartlin, Joseph ;
Kelleher, Dermot P. ;
O'Brien, Geraldine ;
Dimitrov, Borislav D. ;
Morris, Valerie B. ;
Taggart, Clifford C. ;
McElvaney, Noel G. .
RESPIRATORY RESEARCH, 2011, 12
[9]  
de Serres F J, 2005, Monaldi Arch Chest Dis, V63, P133
[10]  
de Serres F J, 2007, Monaldi Arch Chest Dis, V67, P184
123