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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
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 (rs28...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261677/ https://www.ncbi.nlm.nih.gov/pubmed/32547005 http://dx.doi.org/10.2147/COPD.S247446 |
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author | Pérez-Rubio, Gloria Ambrocio-Ortiz, Enrique López-Flores, Luis A Juárez-Martín, Ana I Jiménez-Valverde, Luis Octavio Zoreque-Cabrera, Susana Galicia-Negrete, Gustavo Ramírez-Díaz, María Elena Cruz-Vicente, Filiberto Castillejos-López, Manuel de Jesús Salinas-Lara, Citlaltepetl Hernández-Zenteno, Rafael de Jesús Ramírez-Venegas, Alejandra Falfán-Valencia, Ramcés |
author_facet | Pérez-Rubio, Gloria Ambrocio-Ortiz, Enrique López-Flores, Luis A Juárez-Martín, Ana I Jiménez-Valverde, Luis Octavio Zoreque-Cabrera, Susana Galicia-Negrete, Gustavo Ramírez-Díaz, María Elena Cruz-Vicente, Filiberto Castillejos-López, Manuel de Jesús Salinas-Lara, Citlaltepetl Hernández-Zenteno, Rafael de Jesús Ramírez-Venegas, Alejandra Falfán-Valencia, Ramcés |
author_sort | Pérez-Rubio, Gloria |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7261677 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-72616772020-06-15 Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study Pérez-Rubio, Gloria Ambrocio-Ortiz, Enrique López-Flores, Luis A Juárez-Martín, Ana I Jiménez-Valverde, Luis Octavio Zoreque-Cabrera, Susana Galicia-Negrete, Gustavo Ramírez-Díaz, María Elena Cruz-Vicente, Filiberto Castillejos-López, Manuel de Jesús Salinas-Lara, Citlaltepetl Hernández-Zenteno, Rafael de Jesús Ramírez-Venegas, Alejandra Falfán-Valencia, Ramcés Int J Chron Obstruct Pulmon Dis Original Research 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. Dove 2020-05-27 /pmc/articles/PMC7261677/ /pubmed/32547005 http://dx.doi.org/10.2147/COPD.S247446 Text en © 2020 Pérez-Rubio et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Original Research Pérez-Rubio, Gloria Ambrocio-Ortiz, Enrique López-Flores, Luis A Juárez-Martín, Ana I Jiménez-Valverde, Luis Octavio Zoreque-Cabrera, Susana Galicia-Negrete, Gustavo Ramírez-Díaz, María Elena Cruz-Vicente, Filiberto Castillejos-López, Manuel de Jesús Salinas-Lara, Citlaltepetl Hernández-Zenteno, Rafael de Jesús Ramírez-Venegas, Alejandra Falfán-Valencia, Ramcés Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study |
title | Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study |
title_full | Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study |
title_fullStr | Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study |
title_full_unstemmed | Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study |
title_short | Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study |
title_sort | heterozygous genotype rs17580 at (pis) in serpina1 is associated with copd secondary to biomass-burning and tobacco smoking: a case–control and populational study |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261677/ https://www.ncbi.nlm.nih.gov/pubmed/32547005 http://dx.doi.org/10.2147/COPD.S247446 |
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