Estimated Worldwide Prevalence of the PIZZ Alpha-1 Antitrypsin Genotype in Subjects With Chronic Obstructive Pulmonary Disease

• Published in: Archivos de bronconeumología (English ed.) Vol. 59; no. 7; pp. 427 - 434
• Main Authors: Blanco, Ignacio, Diego, Isidro, Castañón, César, Bueno, Patricia, Miravitlles, Marc
• Format: Journal Article
• Language: English
• Published: Spain Elsevier España, S.L.U 01.07.2023
• Subjects: Adult; alpha 1-Antitrypsin - genetics; alpha 1-Antitrypsin Deficiency - complications; alpha 1-Antitrypsin Deficiency - epidemiology; alpha 1-Antitrypsin Deficiency - genetics; Alpha-1 antitrypsin deficiency; Chronic obstructive pulmonary disease; COPD; Europe - epidemiology; Genotype; Geographic Information Systems (GIS) technology; Humans; Inverse distance weighted (IDW) interpolation; PIZZ genotype; Prevalence; Pulmonary Disease, Chronic Obstructive - complications; Pulmonary Disease, Chronic Obstructive - epidemiology; Pulmonary Disease, Chronic Obstructive - genetics; Pulmonary/Respiratory; SERPINA1; Europe; Alpha-1 antitrypsin deficiency; Inverse distance weighted (IDW) interpolation; SERPINA1; Prevalence; PIZZ genotype; Geographic Information Systems (GIS) technology; Chronic obstructive pulmonary disease; COPD
• ISSN: 0300-2896; 1579-2129; 1579-2129
• DOI: 10.1016/j.arbres.2023.03.016

[Display omitted] The prevalence of α1-antitrypsin PI*ZZ genotypes in patients with COPD is only partially known. We aimed to estimate this prevalence worldwide. A systematic review of the literature was conducted for studies investigating the prevalence of COPD and the prevalence of severe alpha-1-antitrypsin deficiency (AATD) PI*ZZ genotype. Results are shown in tables and on a whole world interpolation map. Studies from 48 countries with available data (21 from Europe, 9 from the Americas, 5 from Africa, 11 from Asia and 2 from Australasia) were selected. About 235,000 individuals with PI*ZZ genotypes were accounted: 50% in Europe, 37% in America, 9% in Asia, 3% in Australasia and 1% in Africa. The estimated crude prevalence of COPD in adults older than 40 years was 12.45% in Europe, 13.51% in America, 13.22% in Africa, 11.70% in Asia and 11.86% in Australasia. The highest PI*ZZ weighted average prevalence among COPD subjects (expressed as 1/x [95% confidence intervals]) were found in Northern Europe (395 [252–576]) followed by Western (797 [538–1165]), Southern (944 [600–1475]) and Central Europe (1096 [687–1738]). Outside Europe, high values were found in Australia–New Zealand (1007 [684–1509]), Saudi Arabia (1276 [563–2961]), United States (1298 [1094–1540]), Canada (1482 [1057–2083]) and Thailand (1807 [717–4692]). In the rest of the world, prevalence was significantly lower, especially in vast regions of Asia and Africa where the PI*Z gene is practically non-existent. Severe AATD is associated with a significant number of cases of COPD, especially in Europe, USA, Canada, New Zealand and Australia.