ArticleRespiratory research2011
The prevalence of alpha-1 antitrypsin deficiency in Ireland.
Article in Respiratory research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 3 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 3 syntheses or guidelines pooled it, 87 citations in OpenAlex.
- Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.Orphanet journal of rare diseases · 2024Pooled it
- Prevalence of αEuropean respiratory review : an official journal of the European Respiratory Society · 2020Pooled it
- Alpha1-Antitrypsin Deficiency: Transition of Care for the Child With AAT Deficiency into Adulthood.Current pediatric reviews · 2019Pooled it
- Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.Orphanet journal of rare diseases · 2026Article
- Densitometric and Functional Progression in Patients with Alpha-1 Antitrypsin Deficiency Genotype SZ.Journal of clinical medicine · 2025Article
- Risk of lung disease with the Pi*SS genotype of alpha-1 antitrypsin: the evidence in context.Respiratory research · 2025Article
- Testing Alpha-1 Antitrypsin Deficiency in Black Populations.Advances in respiratory medicine · 2023Review
- Provider Education in Alpha 1 Antitrypsin Deficiency: Try Again, Fail Again, Fail Better.ATS scholar · 2023Article
- Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis.Respiratory research · 2022Observational
- A Review of Alpha-1 Antitrypsin Binding Partners for Immune Regulation and Potential Therapeutic Application.International journal of molecular sciences · 2022Review
- Methodologies for the Determination of Blood Alpha1 Antitrypsin Levels: A Systematic Review.Journal of clinical medicine · 2021Review
- The emerging role of proteases in αERJ open research · 2021Review
- Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy.Journal of clinical medicine · 2021Article
- Variants ofTherapeutic advances in chronic disease · 2021Review
- Clarifying the Risk of Lung Disease in SZ Alpha-1 Antitrypsin Deficiency.American journal of respiratory and critical care medicine · 2020Observational
- Clinical considerations in individuals with αThe European respiratory journal · 2020Review
- Protocol for the EARCO Registry: a pan-European observational study in patients with αERJ open research · 2020Article
- Diagnosis and management of αERJ open research · 2019Article
- Alpha-1 antitrypsin deficiency as a common treatable mechanism in chronic respiratory disorders and for conditions different from pulmonary emphysema? A commentary on the new European Respiratory Society statement.Multidisciplinary respiratory medicine · 2018Article
- The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals.Journal of inflammation research · 2018Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.
methodsWe present data from the first 3,000 individuals screened following ATS/ERS guidelines as part of the Irish National Targeted Detection Programme (INTDP). We also investigated a DNA collection of 1,100 individuals randomly sampled from the general population. Serum and DNA was collected from both groups and mutations in the SERPINA1 gene detected by phenotyping or genotyping.
resultsThe Irish National Targeted Detection Programme identified 42 ZZ, 44 SZ, 14 SS, 430 MZ, 263 MS, 20 IX and 2 rare mutations. Analysis of 1,100 randomly selected individuals identified 113 MS, 46 MZ, 2 SS and 2 SZ genotypes.
conclusionOur findings demonstrate that AATD in Ireland is more prevalent than previously estimated with Z and S allele frequencies among the highest in the world. Furthermore, our targeted detection programme enriched the population of those carrying the Z but not the S allele, suggesting the Z allele is more important in the pathogenesis of those conditions targeted by the detection programme.
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