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Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study

Authors Pérez-Rubio G, Ambrocio-Ortiz E, López-Flores LA, Juárez-Martín AI, Jiménez-Valverde LO, Zoreque-Cabrera S, Galicia-Negrete G, Ramírez-Díaz ME, Cruz-Vicente F, Castillejos-López MJ, Salinas-Lara C, Hernández-Zenteno RJ, Ramírez-Venegas A, Falfán-Valencia R

Received 28 January 2020

Accepted for publication 20 April 2020

Published 27 May 2020 Volume 2020:15 Pages 1181—1190


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Richard Russell

Gloria Pérez-Rubio,1 Enrique Ambrocio-Ortiz,1 Luis A López-Flores,1 Ana I Juárez-Martín,2 Luis Octavio Jiménez-Valverde,1 Susana Zoreque-Cabrera,1 Gustavo Galicia-Negrete,1 María Elena Ramírez-Díaz,3 Filiberto Cruz-Vicente,4 Manuel de Jesús Castillejos-López,5 Citlaltepetl Salinas-Lara,6 Rafael de Jesús Hernández-Zenteno,7 Alejandra Ramírez-Venegas,7 Ramcés Falfán-Valencia1

1HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico; 2Centro de Estudios Antropológicos - Facultad de Ciencias Políticas y Sociales, Universidad Nacional Autónoma de México, Mexico City, Mexico; 3Coordinación de Vigilancia Epidemiológica, Jurisdicción 06 Sierra, Tlacolula de Matamoros Oaxaca, Servicios de Salud de Oaxaca, Oaxaca, Mexico; 4Hospital Civil Aurelio Valdivieso, Servicios de Salud de Oaxaca, Oaxaca, Mexico; 5Epidemiological Surveillance Unit, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico; 6Department of Neuropathology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico; 7Tobacco Smoking and COPD Research Department, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, Mexico City, Mexico

Correspondence: Ramcés Falfán-Valencia Email

Purpose: The protease inhibitor S (PiS) and Z (PiZ) variants have been stated as the only genetic cause of chronic obstructive pulmonary disease (COPD) in Caucasians. However, its frequency in admixed populations is low. We aimed to identify genetic susceptibility between PiS (rs17580) and PiZ (rs28929474) polymorphisms with COPD related to tobacco smoking and biomass-burning smoke as well as to determine its frequencies in Mestizo and Amerindian populations from Mexico.
Patients and Methods: One thousand and eight hundred seventy-eight subjects were included in two comparisons of cases and controls, (1) smokers with and without COPD (COPD-S, n=399; SWOC, n=1106); (2) Biomass-burning smoke-exposed subjects with and without COPD (COPD-BS, n=98; BBES, n=275). In addition, 2354 Mexican subjects identified as Mestizos (n=1952) and Amerindian (n=402) were included. The population structure was evaluated using 59 informative ancestry markers.
Results: The AT genotype of rs17580 is associated with COPD in both comparisons (COPD-S vs SWOC p< 0.001, OR=2.16; COPD-BS vs BBES p< 0.0001, OR=11.50). The population of the Mexico-North has a greater Caucasian contribution (54.7%) compared to the center (46.9%) and southeast (42.7%).
Conclusion: The rs17580, AT genotype, is associated with COPD in Mexican-Mestizo smokers and exposed to biomass-burning smoke. The rs17580 AT is more frequent in the Mexican-Mestizo population of the North of the country, which has a high Caucasian component.

Keywords: PiS, PiZ, COPD, SERPINA1, AAT, A1AT, biomass-burning smoke, tobacco smoking

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