de Serres F J, Blanco I, Fernández-Bustillo E
Center for the Evaluation of Risks to Human Reproduction, Environmental Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709-2233, USA.
Monaldi Arch Chest Dis. 2007 Dec;67(4):184-208. doi: 10.4081/monaldi.2007.476.
AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of deficiency individuals to both lung and liver disease as well as other several adverse health effects. Therefore, information on accurate estimates of the magnitude of alpha-1 antitrypsin deficiency in any given country is critical for the development of screening programs for detection, diagnosis, and treatment of those individuals and/or families at risk.
Genetic epidemiological studies for alpha-1 antitrypsin deficiency made by others have been used to determine the percentages and estimates of the numbers in each of the five phenotypic classes (PI MS, PI MZ, PI SS, PI SZ, and PI ZZ) of the most common deficiency alleles: PI S and PI Z in each of 69 countries worldwide and also when grouped into 13 major geographic regions.
Our studies have demonstrated striking differences between these estimates when comparisons were made in numeric tables, maps and figures.
Our studies demonstrated striking differences in the prevalences of both the PIS and PIZ alleles among these 69 countries and the numbers at risk for AAT Deficiency in a given country in specific geographic regions. Data on the prevalence of the two major deficiency alleles as well as the numbers in those phenotypic classes known to be at risk for AAT Deficiency is considered critical for the identification of individuals at risk for adverse health effects associated with AAT Deficiency as well as the treatment and management of those individuals identified in a given country.
α1抗胰蛋白酶缺乏症并非罕见疾病，而是最常见的先天性疾病之一，会增加患者个体患肺部和肝脏疾病以及其他几种不良健康影响的易感性。因此，对于任何特定国家而言，准确估计α1抗胰蛋白酶缺乏症的严重程度信息对于制定筛查计划以检测、诊断和治疗那些有风险的个体和/或家庭至关重要。
利用他人进行的α1抗胰蛋白酶缺乏症的遗传流行病学研究，来确定全球69个国家中以及分为13个主要地理区域时，最常见的缺乏等位基因PI S和PI Z在五个表型类别（PI MS、PI MZ、PI SS、PI SZ和PI ZZ）中各自的百分比和数量估计值。
当在数字表格、地图和图表中进行比较时，我们的研究表明这些估计值之间存在显著差异。
我们的研究表明，在这69个国家中，PI S和PI Z等位基因的患病率以及特定地理区域中某个国家患α1抗胰蛋白酶缺乏症的风险人数存在显著差异。两种主要缺乏等位基因的患病率数据以及已知有患α1抗胰蛋白酶缺乏症风险的那些表型类别的人数，对于识别有与α1抗胰蛋白酶缺乏症相关不良健康影响风险的个体以及对某个国家中识别出的那些个体进行治疗和管理而言至关重要。
