Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case-Control and Populational Study
Por:
Perez-Rubio, Gloria, Annbrocio-Ortiz, Enrique, Lopez-Flores, Luis A., Juarez-Martin, I, Ana, Octavio Jimenez-Valverde, Luis, Zoreque-Cabrera, Susana, Galicia-Negrete, Gustavo, Elena Ramirez-Diaz, Maria, Cruz-Vicente, Filiberto, de Jesus Castillejos-Lopez, Manuel, Salinas-Lara, Citlaltepetl, de Jesus Hernandez-Zenteno, Rafael, Ramirez-Venegas, Alejandra, Falfan-Valencia, Ramces
Publicada:
1 ene 2020
Resumen:
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.
Filiaciones:
Perez-Rubio, Gloria:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, HLA Lab, Mexico City, DF, Mexico
Annbrocio-Ortiz, Enrique:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, HLA Lab, Mexico City, DF, Mexico
Lopez-Flores, Luis A.:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, HLA Lab, Mexico City, DF, Mexico
Octavio Jimenez-Valverde, Luis:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, HLA Lab, Mexico City, DF, Mexico
Zoreque-Cabrera, Susana:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, HLA Lab, Mexico City, DF, Mexico
Galicia-Negrete, Gustavo:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, HLA Lab, Mexico City, DF, Mexico
Elena Ramirez-Diaz, Maria:
Serv Salud Oaxaca, Jurisdicc Sierra 06, Coordinac Vigilancia Epidemiol, Oaxaca, Mexico
Cruz-Vicente, Filiberto:
Serv Salud Oaxaca, Hosp Civil Aurelio Valdivieso, Oaxaca, Mexico
de Jesus Castillejos-Lopez, Manuel:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, Epidemiol Surveillance Unit, Mexico City, DF, Mexico
Salinas-Lara, Citlaltepetl:
Inst Nacl Neurol & Neurocirugia Manuel Velasco Su, Dept Neuropathol, Mexico City, DF, Mexico
de Jesus Hernandez-Zenteno, Rafael:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, Tobacco Smoking & COPD Res Dept, Mexico City, DF, Mexico
Ramirez-Venegas, Alejandra:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, Tobacco Smoking & COPD Res Dept, Mexico City, DF, Mexico
Falfan-Valencia, Ramces:
Inst Nacl Enfermedades Resp Ismael Cosio Villegas, HLA Lab, Mexico City, DF, Mexico
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