Please use this identifier to cite or link to this item: doi:10.22028/D291-37467
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Title: The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis
Author(s): Veith, Martina
Tüffers, Julia
Peychev, Erika
Klemmer, Andreas
Kotke, Viktor
Janciauskiene, Sabina
Wilhelm, Susanne
Bals, Robert
Koczulla, Andreas Rembert
Vogelmeier, Claus Franz
Greulich, Timm
Language: English
Title: International Journal of Chronic Obstructive Pulmonary Disease
Volume: 2020
Issue: 15
Pages: 2827-2836
Publisher/Platform: DOVE
Year of Publication: 2020
Free key words: SERPINA1
alpha-1-antitrypsin deficiency
DDC notations: 610 Medicine and health
Publikation type: Journal Article
Abstract: Purpose: Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary condition characterized by low circulating levels of alpha-1antitrypsin (AAT). While the association between AATD and COPD/emphysema is undisputed, the association between AATD and asthma or bronchiectasis is still a matter of debate. Aims and Objectives: Our study aimed to investigate the distribution of AAT genotypes between patients with COPD/emphysema, asthma and bronchiectasis. To back up the diagnostic labels, we described symptoms associated with the diagnosis. Methods: Between September 2003 and March 2020, 29,465 testing kits (AlphaKit®) were analyzed in the AAT laboratory, University of Marburg, Germany. The diagnosis of AATD has been made based on the measurements of AAT serum levels, followed by genotyping, phenotyping or whole gene sequencing depending on the availability and/or the need for more detailed interpretation of the results. The respiratory symptoms were recorded as well. Results: Regarding the distribution of the wild type allele M and the most frequent mutations S (E264V) and Z (E342K), no significant differences could be found between COPD/emphysema [Pi*MM (58.24%); Pi*SZ (2.49%); Pi*ZZ (9.12%)] and bronchiectasis [Pi*MM (59.30%) Pi*SZ (2.81%); Pi*ZZ (7.02%)]. When COPD/emphysema and bronchiectasis were recorded in the same patient, the rate of Pi* ZZ (14.78%) mutations was even higher. Asthma patients exhibited significantly less deficient genotypes [Pi*MM (54.81%); Pi*SZ (2%); Pi*ZZ (2.77%)] than two other groups. Associated respiratory symptoms confirmed the diagnosis. Conclusion: COPD/emphysema and bronchiectasis, but not asthma patients, exhibit higher frequency of AATD genotypes. Our data suggest that AATD testing should be offered to patients with COPD/emphysema and bronchiectasis.
DOI of the first publication: 10.2147/COPD.S271810
URL of the first publication:
Link to this record: urn:nbn:de:bsz:291--ds-374679
ISSN: 1178-2005
Date of registration: 30-Sep-2022
Faculty: M - Medizinische Fakultät
Department: M - Innere Medizin
Professorship: M - Prof. Dr. Robert Bals
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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