PT - JOURNAL ARTICLE AU - Joanna Chorostowska-Wynimko AU - Radoslaw Struniawski AU - Beata Poplawska AU - Maria Borszewska-Kornacka TI - The incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in Polish population - Preliminary results from newborn screening DP - 2012 Sep 01 TA - European Respiratory Journal PG - P1753 VI - 40 IP - Suppl 56 4099 - http://erj.ersjournals.com/content/40/Suppl_56/P1753.short 4100 - http://erj.ersjournals.com/content/40/Suppl_56/P1753.full SO - Eur Respir J2012 Sep 01; 40 AB - Data concerning the prevalence of A1AT deficiency in Poland are very limited due either to small groups analyzed or unreliable methodology.Methods: DBS samples were collected prospectively from 658 newborns between September 2011 - January 2012. AAT serum concentration was measured by nephelometry and PI-phenotype identified by by real-time PCR. The PI*S and PI*Z alleles were confirmed by isoelectrofocusing.Results: Deficiency S or Z allele was observed respectively in 10 (1,5%) and 18 (2,8%) DBS samples (in total 28 (4,3%) samples). Calculated frequencies expressed per 1000 were for PI*Z 13,7 (95% CI: 5,8-21,5), PI*S 7,6 (95% CI: 1,7-13,5). The AAT gene prevalence calculated by Hardy-Weinberg equilibrium were: 1/1.04 for MM, 1/67 for MS, 1/17319 for SS, 1/37 for MZ, 1/4810 for SZ and 1/5345 for ZZ. The mean A1AT concentration was 216±50 mg/dl, in non-S non-Z individuals 220±48 mg/dl, in PI*S carriers 178±33 mg/dl, in PI*Z 138±17 mg/dl.Conclusion: Our results suggest considerably higher prevalence of deficiency alleles in Polish population than currently available data. In particular, the frequency of ZZ deficiency genotype is considerably higher (current best estimate 1/9110).