Dataset Information

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

ABSTRACT:

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.

SUBMITTER: Perez-Rubio G

PROVIDER: S-EPMC7261677 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Publications

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

Pérez-Rubio Gloria G Ambrocio-Ortiz Enrique E López-Flores Luis A LA Juárez-Martín Ana I AI Jiménez-Valverde Luis Octavio LO Zoreque-Cabrera Susana S Galicia-Negrete Gustavo G Ramírez-Díaz María Elena ME Cruz-Vicente Filiberto F Castillejos-López Manuel de Jesús MJ Salinas-Lara Citlaltepetl C Hernández-Zenteno Rafael de Jesús RJ Ramírez-Venegas Alejandra A Falfán-Valencia Ramcés R

International journal of chronic obstructive pulmonary disease 20200527

<h4>Purpose</h4>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.<h4>Patients and m ...[more]

PMID: 32547005

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