The prevalence of alpha(1)-antitrypsin deficiency in a representative population sample from Poland

Respir Med. 2007 Dec;101(12):2520-5. doi: 10.1016/j.rmed.2007.06.032. Epub 2007 Aug 10.


Aim: Severe alpha(1)-antitrypsin (AAT) deficiency is one of the most common genetic disorders in Caucasians. The aim of the present study was to assess an unbiased frequencies of PI*S and PI*Z alleles using genotyping of a representative sample from the general population of Poland.

Methods: A random sample of age- and gender-stratified residents, aged 20 years or older, was drawn from the municipal directory of Kraków, Poland. The two most common deficiency alleles: PI*S and PI*Z were genotyped with qualitative real-time PCR using degenerative dual-labeled allele-specific fluorescent probes.

Results: In the total population of 859 adult subjects (mean age: 49.5 years; range: 20-90), 28 heterozygotes MS, 18 heterozygotes MZ and one homozygote S were diagnosed. The frequency of PI*S allele was 17.5 (95% CI: 11.6-23.9) per 1000; and that of PI*Z was 10.5 (95% CI: 5.8-15.7) per 1000. Therefore, the estimated prevalence of inherited severe AAT deficiency (homozygotes Z) in Poland is 1/9110 (95% CI: 1/4057-1/29,727).

Conclusions: In the whole population of Poland comprising 38 millions, one may expect of about 4189 (95% CI: 1284-9406) subjects with severe AAT deficiency. These numbers are high enough to consider genetic testing being introduced into a common clinical practice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chi-Square Distribution
  • Female
  • Gene Frequency
  • Genetic Testing
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Poland / epidemiology
  • Prevalence
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sampling Studies
  • alpha 1-Antitrypsin / blood
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency / blood
  • alpha 1-Antitrypsin Deficiency / epidemiology*


  • alpha 1-Antitrypsin