ArticleInternational journal of chronic obstructive pulmonary disease2017
Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide.
Article in International journal of chronic obstructive pulmonary disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand.Respirology (Carlton, Vic.) · 2020Guideline
- Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency.Respiratory research · 2018Trial
- Trial
- Role of the alpha-1 antitrypsin in the progression and severity of COVID-19 infection among Saudi patients.BMC infectious diseases · 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
- Genetic drivers of liver cirrhosis: The role of SERPINA1 and PNPLA3 variants in disease onset and progression.PloS one · 2025Article
- Bronchiectasis Occurs Independently of Chronic Obstructive Pulmonary Disease in Alpha-1 Antitrypsin Deficiency.Chronic obstructive pulmonary diseases (Miami, Fla.) · 2024Article
- Assessment and monitoring of lung disease in patients with severe alpha 1 antitrypsin deficiency: a european delphi consensus of the EARCO group.Respiratory research · 2024Article
- Association of A1AT genetic polymorphism and NSCLC: a case- control study in Egyptian population.BMC medical genomics · 2023Article
- Severe COVID-19 Illness and α1-Antitrypsin Deficiency: COVID-AATD Study.Biomedicines · 2023Article
- Comparison of COVID-19 Outcomes With Alpha-1 Antitrypsin Deficiency Prevalence in Europe: A Cross-Sectional Study.Cureus · 2023Article
- Demographic and clinical characteristics of patients with αERJ open research · 2022Article
- The Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Pandemic: Are Africa's Prevalence and Mortality Rates Relatively Low?Advances in virology · 2022Review
- Developing lung cancer in COPD: Possible role of carrying Alpha-1 antitrypsin deficiency variants.Respiratory medicine case reports · 2022Article
- Correlation between α1-Antitrypsin Deficiency and SARS-CoV-2 Infection: Epidemiological Data and Pathogenetic Hypotheses.Journal of clinical medicine · 2021Review
- SARS-CoV-2 mutation 614G creates an elastase cleavage site enhancing its spread in high AAT-deficient regions.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2021Article
- Does Genetic Predisposition Contribute to the Exacerbation of COVID-19 Symptoms in Individuals with Comorbidities and Explain the Huge Mortality Disparity between the East and the West?International journal of molecular sciences · 2021Review
- Epidemiological correlation between COVID-19 epidemic and prevalence of α-1 antitrypsin deficiency in the world.Global health & medicine · 2021Article
- Utility of Transient Elastography for the Screening of Liver Disease in Patients with Alpha1-Antitrypsin Deficiency.Journal of clinical medicine · 2021Article
- Endoplasmic Reticulum Stress Signaling and the Pathogenesis of Hepatocarcinoma.International journal of molecular sciences · 2021Review
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8 authors.
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Abstract
The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established. Since the detection of cases can allow the application of preventive measures in patients and relatives with this congenital disorder, the objective of this study was to update the prevalence of the SZ genotype to achieve accurate estimates of the number of Pi*SZ subjects worldwide, based on studies performed according to the following criteria: 1) samples representative of the general population, 2) AAT phenotyping characterized by adequate methods, and 3) selection of studies with reliable results assessed with a coefficient of variation calculated from the sample size and 95% confidence intervals. Studies fulfilling these criteria were used to develop tables and maps with an inverse distance-weighted (IDW) interpolation method, to provide numerical and geographical information of the Pi*SZ distribution worldwide. A total of 262 cohorts from 71 countries were included in the analysis. With the data provided by these cohorts, a total of 1,490,816 Pi*SZ were estimated: 708,792 in Europe; 582,984 in America and Caribbean; 85,925 in Africa; 77,940 in Asia; and 35,176 in Australia and New Zealand. Remarkably, the IDW interpolation maps predicted the Pi*SZ prevalence throughout the entire world even in areas lacking real data. These results may be useful to plan strategies for future research, diagnosis, and management of affected individuals.
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