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Volume 80
Issue 5
10.5603/ARM.27565
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Advances in Respiratory Medicine is published by MDPI from Volume 90 Issue 4 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Via Medica.
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Communication

The Incidence of Alpha-1-Antitrypsin (A1AT) Deficiency Alleles in Population of Central Poland—Preliminary Results from Newborn Screening

by
Joanna Chorostowska-Wynimko
1,*,
Radosław Struniawski
1,
Beata Popławska
1 and
Maria Borszewska-Kornacka
2
1
Independent Laboratory for Molecular Diagnostics and Immunology, National Research Institute for Tuberculosis and Lung Diseases, ul. Płocka 26, 01-138 Warszawa, Poland
2
Department of Neonatology and Intensive Neonatal Therapy, Medical University of Warsaw, 02-091 Warszawa, Poland
*
Author to whom correspondence should be addressed.
Adv. Respir. Med. 2012, 80(5), 450-453; https://doi.org/10.5603/ARM.27565
Submission received: 21 July 2012 / Revised: 27 August 2012 / Accepted: 27 August 2012 / Published: 27 August 2012

Abstract

Inherited alpha-1 antitrypsin deficiency (A1ATD) is listed among the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. Data on the A1ATD prevalence in Poland are scarce, no studies with large enough groups representative for whole Polish population have been performed. Here, we present the preliminary data on the incidence of A1AT main deficiency alleles from the newborn screening in Mazovia (Central Poland) region. Real-time PCR genotyping and A1AT blood concentration measure- ment by nephelometry were performed from the dry blood spots (DBS) samples of 658 newborns. Deficiency alleles PI*Z i PI*S were present in 28 children, respectively in 2.8% and 1.5%. Their existence corresponded with significantly lower A1AT blood concentration. Estimated incidence of deficiency alleles was 13.7/1000 (95% CI 5.8–21.5) for PI*Z and 7.6/1000 (95% CI 1.7–13.5) for PI*S. The calculated prevalence for the main deficiency genotype ZZ was 1/5345. The study is on-going.
Keywords: alpha-1 antitrypsin deficiency; S allele; Z allele; genotyping; blood concentration; DBS; prevalence; newborns; Poland alpha-1 antitrypsin deficiency; S allele; Z allele; genotyping; blood concentration; DBS; prevalence; newborns; Poland

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MDPI and ACS Style

Chorostowska-Wynimko, J.; Struniawski, R.; Popławska, B.; Borszewska-Kornacka, M. The Incidence of Alpha-1-Antitrypsin (A1AT) Deficiency Alleles in Population of Central Poland—Preliminary Results from Newborn Screening. Adv. Respir. Med. 2012, 80, 450-453. https://doi.org/10.5603/ARM.27565

AMA Style

Chorostowska-Wynimko J, Struniawski R, Popławska B, Borszewska-Kornacka M. The Incidence of Alpha-1-Antitrypsin (A1AT) Deficiency Alleles in Population of Central Poland—Preliminary Results from Newborn Screening. Advances in Respiratory Medicine. 2012; 80(5):450-453. https://doi.org/10.5603/ARM.27565

Chicago/Turabian Style

Chorostowska-Wynimko, Joanna, Radosław Struniawski, Beata Popławska, and Maria Borszewska-Kornacka. 2012. "The Incidence of Alpha-1-Antitrypsin (A1AT) Deficiency Alleles in Population of Central Poland—Preliminary Results from Newborn Screening" Advances in Respiratory Medicine 80, no. 5: 450-453. https://doi.org/10.5603/ARM.27565

APA Style

Chorostowska-Wynimko, J., Struniawski, R., Popławska, B., & Borszewska-Kornacka, M. (2012). The Incidence of Alpha-1-Antitrypsin (A1AT) Deficiency Alleles in Population of Central Poland—Preliminary Results from Newborn Screening. Advances in Respiratory Medicine, 80(5), 450-453. https://doi.org/10.5603/ARM.27565

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