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Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases

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2012
1631.pdf (113.4Kb)
Authors
Topić, Aleksandra
Stankovic, Marija
Divac-Rankov, Aleksandra
Petrović-Stanojević, Nataša
Mitić-Milikić, Marija
Nagorni-Obradović, Ljudmila
Radojković, Dragica
Article (Published version)
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Abstract
Aim: 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. Methods: 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. Results: 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). Conclusion: 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.

Source:
Genetic Testing and Molecular Biomarkers, 2012, 16, 11, 1282-1286
Publisher:
  • Mary Ann Liebert Inc, New Rochelle
Projects:
  • Complex diseases as a model system for phenotype modulation- structural and functional analysis of molecular biomarkers (RS-173008)

DOI: 10.1089/gtmb.2012.0152

ISSN: 1945-0265

PubMed: 22971141

WoS: 000310573800006

Scopus: 2-s2.0-84868029755
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URI
http://farfar.pharmacy.bg.ac.rs/handle/123456789/1633
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  • Radovi istraživača / Researchers’ publications
Institution
Pharmacy

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