Topic Aleksandra, Stankovic Marija, Divac-Rankov Aleksandra, Petrovic-Stanojevic Natasa, Mitic-Milikic Marija, Nagorni-Obradovic Ljudmila, Radojkovic Dragica
Department of Medical Biochemistry, Faculty of Pharmacy, University of Belgrade, Belgrade, Serbia.
Genet Test Mol Biomarkers. 2012 Nov;16(11):1282-6. doi: 10.1089/gtmb.2012.0152. Epub 2012 Sep 12.
Alpha-1-antitrypsin (A1AT) is the main inhibitor of neutrophil elastase, and severe alpha-1-antitrypsin deficiency (A1ATD) is a genetic risk factor for early-onset emphysema. Despite the relatively high prevalence of A1ATD, this condition is frequently underdiagnosed. Our aim was to determine the distribution of the A1ATD phenotypes/alleles in patients with lung diseases as well as in the Serbian population.
The study included the adults with chronic obstructive pulmonary disease (COPD) (n=348), asthma (n=71), and bronchiectasis (n=35); the control was 1435 healthy blood donors. The A1ATD variants were identified by isoelectric focusing or polymerase chain reaction-mediated site-directed mutagenesis.
PiMZ heterozygotes, PiZZ homozygotes, and Z allele carriers are associated with significantly higher risk of developing COPD than healthy individuals (odds ratios 3.43, 42.42, and 5.49 respectively). The calculated prevalence of PiZZ, PiMZ, and PiSZ was higher in patients with COPD (1:202, 1:8, and 1:1243) than in the Serbian population (1:5519, 1:38, and 1:5519).
The high prevalence of A1ATD phenotypes/allele in our population has confirmed the necessity of screening for A1ATD in patients with COPD. On the other hand, on the basis of the estimated number of those with A1ATD among the COPD patients, it is possible to assess the diagnostic efficiency of A1ATD in the Serbian population.
α1抗胰蛋白酶（A1AT）是中性粒细胞弹性蛋白酶的主要抑制剂，严重的α1抗胰蛋白酶缺乏症（A1ATD）是早发性肺气肿的遗传危险因素。尽管A1ATD的患病率相对较高，但这种疾病经常被漏诊。我们的目的是确定A1ATD表型/等位基因在肺部疾病患者以及塞尔维亚人群中的分布情况。
该研究纳入了患有慢性阻塞性肺疾病（COPD）（n = 348）、哮喘（n = 71）和支气管扩张症（n = 35）的成年人；对照组为1435名健康献血者。通过等电聚焦或聚合酶链反应介导的定点诱变来鉴定A1ATD变体。
与健康个体相比，PiMZ杂合子、PiZZ纯合子和Z等位基因携带者患COPD的风险显著更高（优势比分别为3.43、42.42和5.49）。COPD患者中PiZZ、PiMZ和PiSZ的计算患病率（分别为1:202、1:8和1:1243）高于塞尔维亚人群（分别为1:5519、1:38和1:5519）。
我们人群中A1ATD表型/等位基因的高患病率证实了对COPD患者进行A1ATD筛查的必要性。另一方面，根据COPD患者中A1ATD患者的估计数量，可以评估A1ATD在塞尔维亚人群中的诊断效率。
