ArticleRespiratory research2024
Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project.
Article in Respiratory research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04180319 (A Pan-European Multi-Centre Observational Study To Determine The Natural History Of Patients With Alpha-1 Antitrypsin), which is not on this map. Cited by 8 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Pan-European Multi-Centre Observational Study To Determine The Natural History Of Patients With Alpha-1 Antitrypsin
Who cites it
8 citing papers in PubMed.
- Evaluation of Alpha1 Antitrypsin Deficiency-Associated Mutations in People with Cystic Fibrosis.Journal of clinical medicine · 2025Article
- Clinical characteristics of AATD-related COPD patients vary with age at diagnosis: data from the EARCO international registry.BMC pulmonary medicine · 2025Article
- Clinical Utility of Non-Invasive Tests for Liver Fibrosis in People Living With Alpha-1 Antitrypsin Deficiency.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Alpha-1 Antitrypsin Deficiency and Bronchial Asthma: Current Challenges.Biomolecules · 2025Review
- Risk of lung disease with the Pi*SS genotype of alpha-1 antitrypsin: the evidence in context.Respiratory research · 2025Article
- Response to: risk of lung disease with the Pi*SS genotype of alpha-1 antitrypsin: the evidence in context.Respiratory research · 2025Article
- Alpha-1 Antitrypsin Deficiency Alleles in Non-Cirrhotic Hepatocellular Carcinoma: Insights from a Multicenter French Cohort.Journal of clinical and experimental hepatologyArticle
- Decalogue of Best Practices in Alpha-1 Antitrypsin Deficiency.Open respiratory archivesReview
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe PI*S variant is one of the most prevalent mutations within alpha-1 antitrypsin deficiency (AATD). The risk of developing AATD-related lung disease in individuals with the PI*SS genotype is poorly defined despite its substantial prevalence. Our study aimed to characterize this genotype and its risk for lung disease and compare it with the PI*ZZ and PI*SZ genotypes using data from the European Alpha-1 antitrypsin Deficiency Research Collaboration international registry.
methodDemographic, clinical, functional, and quality of life (QoL) parameters were assessed to compare the PI*SS characteristics with the PI*SZ and PI*ZZ controls. A propensity score with 1:3 nearest-neighbour matching was performed for the most important confounding variables.
resultsThe study included 1007 individuals, with PI*SS (n = 56; 5.6%), PI*ZZ (n = 578; 57.4%) and PI*SZ (n = 373; 37.0%). The PI*SS population consisted of 58.9% men, with a mean age of 59.2 years and a mean FEV1(% predicted) of 83.4%. Compared to PI*ZZ individuals they had less frequent lung disease (71.4% vs. 82.2%, p = 0.037), COPD (41.4% vs. 60%, p = 0.002), and emphysema (23.2% vs. 51.9%, p < 0.001) and better preserved lung function, fewer exacerbations, lower level of dyspnoea, and better QoL. In contrast, no significant differences were found in the prevalence of lung diseases between PI*SS and PI*SZ, or lung function parameters, exacerbations, dyspnoea, or QoL.
conclusionsWe found that, as expected, the risk of lung disease associated with the PI*SS genotype is significantly lower compared with PI*ZZ, but does not differ from that observed in PI*SZ individuals, despite having higher serum AAT levels.
trial registrationwww. CLINICALTRIALS: gov (ID: NCT04180319).
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