RT Journal Article
T1 Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update.
A1 Blanco, Ignacio
A1 Bueno, Patricia
A1 Diego, Isidro
A1 Pérez-Holanda, Sergio
A1 Casas-Maldonado, Francisco
A1 Esquinas, Cristina
A1 Miravitlles, Marc
K1 SERPINA1
K1 Alpha-1 antitrypsin deficiency
K1 Genetic epidemiology
K1 Geographic information system
K1 Inverse distance weighted interpolation
K1 Protease inhibitor
K1 África
K1 Alelos
K1 Región del Caribe
K1 Intervalos de confianza
K1 Europa (Continente)
K1 Genotipo
K1 Nueva Zelanda
K1 Prevalencia
K1 Salud Pública
K1 Reproducibilidad de resultados
K1 Tamaño de la Muestra
K1 Deficiencia de alfa 1-antitripsina
AB In alpha-1 antitrypsin deficiency (AATD), the Z allele is present in 98% of cases with severe disease, and knowledge of the frequency of this allele is essential from a public health perspective. However, there is a remarkable lack of epidemiological data on AATD worldwide, and many of the data currently used are outdated. Therefore, the objective of this study was to update the knowledge of the frequency of the Z allele to achieve accurate estimates of the prevalence and number of Pi*ZZ genotypes 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) measurements performed using a coefficient of variation calculated from the sample size and 95% confidence intervals. Studies fulfilling these criteria were used to develop maps with an inverse distance weighted (IDW)-interpolation method, providing numerical and graphical information of Pi*Z distribution worldwide. A total of 224 cohorts from 65 countries were included in the study. With the data provided by these cohorts, a total of 253,404 Pi*ZZ were estimated worldwide: 119,594 in Europe, 91,490 in America and Caribbean, 3,824 in Africa, 32,154 in Asia, 4,126 in Australia, and 2,216 in New Zealand. In addition, the IDW-interpolation maps predicted Pi*Z frequencies throughout the world even in some areas that lack real data. In conclusion, the inclusion of new well-designed studies and the exclusion of the low-quality ones have significantly improved the reliability of results, which may be useful to plan strategies for future research and diagnosis and to rationalize the therapeutic resources available.
PB Dove Medical Press
SN 1176-9106
YR 2017
FD 2017-02-13
LK http://hdl.handle.net/10668/2622
UL http://hdl.handle.net/10668/2622
LA en
NO Blanco I, Bueno P, Diego I, Pérez-Holanda S, Casas-Maldonado F, Esquinas C, et al. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017; 12:561-569
NO Journal Article;
DS RISalud
RD Apr 7, 2025