Version 1
: Received: 4 July 2024 / Approved: 4 July 2024 / Online: 4 July 2024 (11:04:00 CEST)
How to cite:
Poluzioroviene, E.; Chorostowska-Wynimko, J.; Petraitiene, S.; Strumila, A.; Roży, A.; Zdral, A.; Valiulis, A. Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children. Preprints2024, 2024070433. https://doi.org/10.20944/preprints202407.0433.v1
Poluzioroviene, E.; Chorostowska-Wynimko, J.; Petraitiene, S.; Strumila, A.; Roży, A.; Zdral, A.; Valiulis, A. Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children. Preprints 2024, 2024070433. https://doi.org/10.20944/preprints202407.0433.v1
Poluzioroviene, E.; Chorostowska-Wynimko, J.; Petraitiene, S.; Strumila, A.; Roży, A.; Zdral, A.; Valiulis, A. Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children. Preprints2024, 2024070433. https://doi.org/10.20944/preprints202407.0433.v1
APA Style
Poluzioroviene, E., Chorostowska-Wynimko, J., Petraitiene, S., Strumila, A., Roży, A., Zdral, A., & Valiulis, A. (2024). Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children. Preprints. https://doi.org/10.20944/preprints202407.0433.v1
Chicago/Turabian Style
Poluzioroviene, E., Aneta Zdral and Arunas Valiulis. 2024 "Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children" Preprints. https://doi.org/10.20944/preprints202407.0433.v1
Abstract
Severe inherited alpha-1 antitrypsin deficiency (AATD) is an autosomal genetic condition linked to chronic obstructive pulmonary disease (COPD). The significance of heterozygous, milder deficiency variants (Pi*M, Pi*S, Pi*Z) is less clear. We studied AATD genotypes in 145 children (up to 72 months old) with assessed wheezing severity using the Pediatric Respiratory Assessment Measure (BCCH PRAM score). A control group of 74 children without airway obstruction was included. AAT concentration and Pi phenotype were determined from dry blood spot samples using nephelometry and real-time PCR; PiS and PiZ alleles were identified by isoelectrofocusing. Among the wheezers, the Pi*S allele incidence was 2.07% (3 cases) and Pi*Z allele was 6.9% (10 cases). The Pi*Z allele frequency was higher in wheezers compared to controls (44.8% vs. 20.27%) and the general Lithuanian population (44.8% vs. 13.6%) and was similar to adult COPD patients in Lithuania: Pi*S 10.3% vs. 15.8% and Pi*Z 44.8% vs. 46.1%. No association was found between AAT genotypes and wheezing severity. Finding that wheezer children exhibit a frequency of Z* and S* alleles like that found in adults with COPD suggests a potential genetic predisposition that links early wheezing in children to the development of COPD in adulthood. Larger cohort studies are needed to confirm this finding.
Medicine and Pharmacology, Pediatrics, Perinatology and Child Health
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
