ArticleInternational journal of chronic obstructive pulmonary disease2020
The Distribution of Alpha-1 Antitrypsin Genotypes Between Patients with COPD/Emphysema, Asthma and Bronchiectasis.
Article in International journal of chronic obstructive pulmonary disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 38 citations in OpenAlex.
- Alpha-1 Antitrypsin Deficiency-Associated Chronic Obstructive Pulmonary Disease.Medicina (Kaunas, Lithuania) · 2026Review
- Characteristics of bronchiectasis in patients with different genotypes of severe αERJ open research · 2026Article
- Alpha-1 Antitrypsin Levels and Phenotypes in Patients with Asthma and COPD in Appalachian East Tennessee.International journal of chronic obstructive pulmonary disease · 2026Article
- α‑1 Antitrypsin is a potential target of inflammation and immunomodulation (Review).Molecular medicine reports · 2025Review
- Alpha-1 Antitrypsin Genotype Distribution in Patients with Emphysema.International journal of chronic obstructive pulmonary disease · 2025Article
- Alpha-1-antitrypsin-deficiency is associated with lower cardiovascular risk: an approach based on federated learning.Respiratory research · 2024Article
- Alpha-1 Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT.International journal of chronic obstructive pulmonary disease · 2024Article
- Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint.European respiratory review : an official journal of the European Respiratory Society · 2023Article
- Hidden Comorbidities in Asthma: A Perspective for a Personalized Approach.Journal of clinical medicine · 2023Review
- An Alpha-1 Antitrypsin Deficiency Screening Study in Patients with Chronic Obstructive Pulmonary Disease, Bronchiectasis, or Asthma in Turkey.International journal of chronic obstructive pulmonary disease · 2023Article
- Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis.Respiratory research · 2022Observational
- Asthma Therapies on Pulmonary Tuberculosis Pneumonia in Predominant Bronchiectasis-Asthma Combination.Frontiers in pharmacology · 2022Article
- Protease-Antiprotease Imbalance in Bronchiectasis.International journal of molecular sciences · 2021Review
- Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy.Journal of clinical medicine · 2021Article
- Bronchiectasis-COPD Overlap Syndrome: A Comprehensive Review of its Pathophysiology and Potential Cardiovascular Implications.Therapeutic advances in pulmonary and critical care medicineReview
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Authors and funding
11 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
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.
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