title: Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Medical Biochemistry, Faculty of Pharmacy, University of Belgrade, Belgrade, Serbia. aleksandra.topic1@gmail.com
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Topic
authors.forename: Marija
authors.initials: M
authors.lastname: Stankovic
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Divac-Rankov
authors.forename: Natasa
authors.initials: N
authors.lastname: Petrovic-Stanojevic
authors.forename: Marija
authors.initials: M
authors.lastname: Mitic-Milikic
authors.forename: Ljudmila
authors.initials: L
authors.lastname: Nagorni-Obradovic
authors.forename: Dragica
authors.initials: D
authors.lastname: Radojkovic
mesh_terms: D001249:Asthma / Q000150:complications / Q000235:genetics; D001987:Bronchiectasis / Q000150:complications / Q000235:genetics; D006801:Humans; D008171:Lung Diseases / Q000150:complications / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D015995:Prevalence; D029424:Pulmonary Disease, Chronic Obstructive / Q000150:complications / Q000235:genetics; D011656:Pulmonary Emphysema / Q000150:complications / Q000235:genetics; D055771:Serbia / Q000453:epidemiology; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000453:epidemiology* / Q000235:genetics
chemical_list: D000515:alpha 1-Antitrypsin