Center for Evaluation of Risks to Human Reproduction, National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709-2233, USA.
Ther Adv Respir Dis. 2012 Oct;6(5):277-95. doi: 10.1177/1753465812457113. Epub 2012 Aug 29.
Genetic epidemiological studies on the prevalence and numbers of individuals with α1-antitrypsin deficiency in each of 97 countries worldwide were used to estimate the numbers in each of the five following phenotypic classes: PIMS, PIMZ, PISS, PISZ, and PIZZ. 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 PIS and PIZ 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 PIS and PIZ 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 PIZZ individuals for augmentation therapy within a given geographic region.
利用全球 97 个国家的 α1-抗胰蛋白酶缺乏症患病率和个体数量的遗传流行病学研究，估算了以下五个表型类别中的个体数量：PIMS、PIMZ、PISS、PISZ 和 PIZZ。然后，将这 97 个国家分为 10 个主要地理区域，以便能够比较每个表型类别的数量。这种分组还可以审查 PIS 和 PIZ 等位基因从一个主要地理分组传播到世界另一个地理分组的情况，以及这两个缺陷等位基因在一个主要地理区域内的传播情况。同一地理区域内各国五个表型类别中每个类别的数量以及同一地理区域内各国 PIS 和 PIZ 等位基因的流行率的 10 个表中的数据为确定特定表型类别中的大量个体提供了新颖的数据库。该数据库还为确定特定地理区域内具有高数量 PIZZ 个体的国家提供了用于增敏治疗的有用信息。
