The prevalence of alpha(1)-antitrypsin deficiency in a representative population sample from Poland.
OBJECTIVE
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.
Kaczor
Marcin P
MP
Department of Medicine, Jagiellonian University Medical College, 8 Skawińska Street, 30-066 Kraków, Poland.
Sanak
Marek
M
Libura-Twardowska
Magdalena
M
Szczeklik
Andrew
A
D000328:Adult; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012494:Sampling Studies; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000453:epidemiology*
D000515:alpha 1-Antitrypsin