Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases
2012
Аутори
Topić, AleksandraStanković, Marija
Divac-Rankov, Aleksandra
Petrović-Stanojević, Nataša
Mitic-Milikić, Marija
Nagorni-Obradović, Ljudmila
Radojković, Dragica
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Aim: Alpha-1-antitrypsin (A1AT) is the main inhibitor of neutrophil elastase, and severe alpha-1-antitrypsin deficiency (A1ATD) is a genetic risk factor for early-onset emphysema. Despite the relatively high prevalence of A1ATD, this condition is frequently underdiagnosed. Our aim was to determine the distribution of the A1ATD phenotypes/alleles in patients with lung diseases as well as in the Serbian population. Methods: The study included the adults with chronic obstructive pulmonary disease (COPD) (n = 348), asthma (n = 71), and bronchiectasis (n = 35); the control was 1435 healthy blood donors. The A1ATD variants were identified by isoelectric focusing or polymerase chain reaction-mediated site-directed mutagenesis. Results: PiMZ heterozygotes, PiZZ homozygotes, and Z allele carriers are associated with significantly higher risk of developing COPD than healthy individuals (odds ratios 3.43, 42.42, and 5.49 respectively). The calculated prevalence of PiZZ, PiMZ, and PiSZ was higher ...in patients with COPD (1:202, 1:8, and 1:1243) than in the Serbian population (1: 5519, 1: 38, and 1:5519). Conclusion: The high prevalence of A1ATD phenotypes/allele in our population has confirmed the necessity of screening for A1ATD in patients with COPD. On the other hand, on the basis of the estimated number of those with A1ATD among the COPD patients, it is possible to assess the diagnostic efficiency of A1ATD in the Serbian population.
Извор:
Genetic Testing & Molecular Biomarkers, 2012, 16, 11, 1282-1286Издавач:
- Mary Ann Liebert, Inc, New Rochelle
Финансирање / пројекти:
- Комплексне болести као модел систем за проучавање модулације фенотипа-структурна и функционална анализа молекуларних биомаркера (RS-MESTD-Basic Research (BR or ON)-173008)
DOI: 10.1089/gtmb.2012.0152
ISSN: 1945-0265
PubMed: 22971141
WoS: 000310573800006
Scopus: 2-s2.0-84868029755
Колекције
Институција/група
Stomatološki fakultetTY - JOUR AU - Topić, Aleksandra AU - Stanković, Marija AU - Divac-Rankov, Aleksandra AU - Petrović-Stanojević, Nataša AU - Mitic-Milikić, Marija AU - Nagorni-Obradović, Ljudmila AU - Radojković, Dragica PY - 2012 UR - https://smile.stomf.bg.ac.rs/handle/123456789/1758 AB - Aim: Alpha-1-antitrypsin (A1AT) is the main inhibitor of neutrophil elastase, and severe alpha-1-antitrypsin deficiency (A1ATD) is a genetic risk factor for early-onset emphysema. Despite the relatively high prevalence of A1ATD, this condition is frequently underdiagnosed. Our aim was to determine the distribution of the A1ATD phenotypes/alleles in patients with lung diseases as well as in the Serbian population. Methods: The study included the adults with chronic obstructive pulmonary disease (COPD) (n = 348), asthma (n = 71), and bronchiectasis (n = 35); the control was 1435 healthy blood donors. The A1ATD variants were identified by isoelectric focusing or polymerase chain reaction-mediated site-directed mutagenesis. Results: PiMZ heterozygotes, PiZZ homozygotes, and Z allele carriers are associated with significantly higher risk of developing COPD than healthy individuals (odds ratios 3.43, 42.42, and 5.49 respectively). The calculated prevalence of PiZZ, PiMZ, and PiSZ was higher in patients with COPD (1:202, 1:8, and 1:1243) than in the Serbian population (1: 5519, 1: 38, and 1:5519). Conclusion: The high prevalence of A1ATD phenotypes/allele in our population has confirmed the necessity of screening for A1ATD in patients with COPD. On the other hand, on the basis of the estimated number of those with A1ATD among the COPD patients, it is possible to assess the diagnostic efficiency of A1ATD in the Serbian population. PB - Mary Ann Liebert, Inc, New Rochelle T2 - Genetic Testing & Molecular Biomarkers T1 - Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases VL - 16 IS - 11 SP - 1282 EP - 1286 DO - 10.1089/gtmb.2012.0152 ER -
@article{ author = "Topić, Aleksandra and Stanković, Marija and Divac-Rankov, Aleksandra and Petrović-Stanojević, Nataša and Mitic-Milikić, Marija and Nagorni-Obradović, Ljudmila and Radojković, Dragica", year = "2012", abstract = "Aim: Alpha-1-antitrypsin (A1AT) is the main inhibitor of neutrophil elastase, and severe alpha-1-antitrypsin deficiency (A1ATD) is a genetic risk factor for early-onset emphysema. Despite the relatively high prevalence of A1ATD, this condition is frequently underdiagnosed. Our aim was to determine the distribution of the A1ATD phenotypes/alleles in patients with lung diseases as well as in the Serbian population. Methods: The study included the adults with chronic obstructive pulmonary disease (COPD) (n = 348), asthma (n = 71), and bronchiectasis (n = 35); the control was 1435 healthy blood donors. The A1ATD variants were identified by isoelectric focusing or polymerase chain reaction-mediated site-directed mutagenesis. Results: PiMZ heterozygotes, PiZZ homozygotes, and Z allele carriers are associated with significantly higher risk of developing COPD than healthy individuals (odds ratios 3.43, 42.42, and 5.49 respectively). The calculated prevalence of PiZZ, PiMZ, and PiSZ was higher in patients with COPD (1:202, 1:8, and 1:1243) than in the Serbian population (1: 5519, 1: 38, and 1:5519). Conclusion: The high prevalence of A1ATD phenotypes/allele in our population has confirmed the necessity of screening for A1ATD in patients with COPD. On the other hand, on the basis of the estimated number of those with A1ATD among the COPD patients, it is possible to assess the diagnostic efficiency of A1ATD in the Serbian population.", publisher = "Mary Ann Liebert, Inc, New Rochelle", journal = "Genetic Testing & Molecular Biomarkers", title = "Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases", volume = "16", number = "11", pages = "1282-1286", doi = "10.1089/gtmb.2012.0152" }
Topić, A., Stanković, M., Divac-Rankov, A., Petrović-Stanojević, N., Mitic-Milikić, M., Nagorni-Obradović, L.,& Radojković, D.. (2012). Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases. in Genetic Testing & Molecular Biomarkers Mary Ann Liebert, Inc, New Rochelle., 16(11), 1282-1286. https://doi.org/10.1089/gtmb.2012.0152
Topić A, Stanković M, Divac-Rankov A, Petrović-Stanojević N, Mitic-Milikić M, Nagorni-Obradović L, Radojković D. Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases. in Genetic Testing & Molecular Biomarkers. 2012;16(11):1282-1286. doi:10.1089/gtmb.2012.0152 .
Topić, Aleksandra, Stanković, Marija, Divac-Rankov, Aleksandra, Petrović-Stanojević, Nataša, Mitic-Milikić, Marija, Nagorni-Obradović, Ljudmila, Radojković, Dragica, "Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases" in Genetic Testing & Molecular Biomarkers, 16, no. 11 (2012):1282-1286, https://doi.org/10.1089/gtmb.2012.0152 . .