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

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 PIS and PIZ 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: PIS and PIZ 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 PIS allele was 17.5 (95% CI: 11.6-23.9) per 1000; and that of PIZ 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.