Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

Martín-González, Elena; Hernández-Pérez, José M.; Pérez, José A. Pérez; Pérez-García, Javier; Herrera-Luis, Esther; González-Pérez, Ruperto; González-González, Orelvis; Mederos-Luis, Elena; Sánchez-Machín, Inmaculada; Poza-Guedes, Paloma; Sardón, Olaia; Corcuera, Paula; Cruz, María J.; González-Barcala, Francisco J.; Martínez-Rivera, Carlos; Mullol, Joaquim; Muñoz, Xavier; Olaguibel, José M.; Plaza, Vicente; Quirce, Santiago; Valero, Antonio; Sastre, Joaquín; Korta-Murua, Javier; del Pozo, Victoria; Lorenzo-Díaz, Fabián; Villar, Jesús; Pino-Yanes, María; González-Carracedo, Mario A.

doi:10.1016/j.pulmoe.2023.05.002

Cited by 7 publications

(2 citation statements)

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“…A bibliographic search was carried out in MEDLINE, Embase (through Ovid), and Google Scholar, until December 2023, looking for studies on prevalence of AATD in the general population and in screening of people clinically suspected of being affected by AATD in Macaronesia, selecting studies published in journals reviewed by peers in order to create a database with reliable results. With the keywords "Alpha-1 antitrypsin deficiency" and the name of each archipelago, in English, and some articles cited in the bibliography of those selected, 16 articles were compiled: 2 on Madeira [7,8], 13 on the Canary Islands [9][10][11][12][13][14][15][16][17][18][19][20][21], and 1 on Cape Verde [22]. None was found about the Azores.…”

Section: Methodsmentioning

confidence: 99%

Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency in Macaronesia

Blanco,

Miravitlles

2024

Respiration

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Introduction: The prevalence of alpha-1 antitrypsin deficiency (AATD) in Macaronesia (i.e., Azores, Madeira, Canary Islands and Cape Verde archipelagos) is poorly known. Our goal is to update it by selecting the most reliable available articles. Method: Literature search using Medline, EMBASE (via Ovid) and Google Scholar, until December 2023, for studies on prevalence of AATD in the general population and in screenings, published in peer-reviewed journals. Results: Three studies carried out in the general population of Madeira, La Palma and Cape Verde, and three screenings carried out in La Palma (2) and Gran Canaria (1) were selected. The frequencies of PI*S in the general population showed an ascending gradient, from South to North, with values (per thousand) of 35 in Cape Verde, 82 in La Palma and 180 in Madeira. The PI*Z frequencies showed this same gradient, with values of 2 x1,000 in Cape Verde, 21 in La Palma and 25 in Madeira. Screenings detected high percentages of defective alleles, including several rare and null alleles, some unique to these islands. Conclusion: The frequencies of PI*S and PI*Z in Madeira are comparable to the highest in the world. Those of the Canary Islands are similar to those of the peninsular population of Spain, and contrast with the low rates of Cape Verde. Screenings detected high numbers of deficient alleles. These results support the systematic investigation of AATD in clinically suspected patients and in relatives of index cases, to reduce underdiagnosis and apply early preventive and therapeutic measures in those affected.

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Section: Methodsmentioning

confidence: 99%

Genetic Epidemiology of Alpha-1 Antitrypsin Deficiency in Macaronesia

Blanco,

Miravitlles

2024

Respiration

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“…Otro punto importante que creemos que hay que resaltar es que muchos de los pacientes con DAAT no son EPOC y han sido diagnosticados con otras enfermedades respiratorias y, si en verdad queremos conocer nuestra prevalencia real de la DAAT en nuestra región o país, es necesario ampliar la búsqueda a otras enfermedades. Así, nos hemos encontrado con que un grupo importante de pacientes con DAAT poseen asma bronquial 4 ; posteriormente, hemos demostrado que la presencia del alelo PI*Z se ha asociado al desarrollo de exacerbaciones en pacientes diagnosticados de este patología 5 , demostrando la necesidad de buscar la DAAT en esta enfermedad respiratoria.…”

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