HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, Mexico City 14080, Mexico.
Tobacco Smoking and COPD Research Department, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, Mexico City 14080, Mexico.
Int J Mol Sci. 2019 Dec 27;21(1):195. doi: 10.3390/ijms21010195.
Protease inhibitor S (PiS) and protease inhibitor Z (PiZ) variants in the gene are the main genetics factors associated with COPD; however, investigations about other polymorphisms are scanty. The aim of this study was to evaluate two missense single nucleotide polymorphisms (SNPs) (rs709932 and rs1303) in the gene in Mexican mestizo patients with chronic obstructive pulmonary disease (COPD) related to tobacco smoking and biomass-burning exposure. 1700 subjects were genotyped and divided into four groups: COPD related to tobacco smoking (COPD-S, = 297), COPD related to biomass-burning exposure (COPD-BB, = 178), smokers without COPD (SWOC, = 674), and biomass-burning exposed subjects (BBES, = 551) by real-time PCR. Moreover, the patients' groups were divided according to their exacerbations' frequency. We carried out a haplotype analysis. We did not find differences in allele and genotype frequencies between groups in unadjusted and adjusted analyses, neither with these SNPs and lung function decline. Exacerbations' frequency is not associated with these SNPs. However, we found a haplotype with major alleles (CT) associated with reduced risk for COPD ( < 0.05). Our analysis reveals that SNPs different from PiS and PiZ (rs709932 and rs1303) in the gene are not associated with COPD and lung function decline in a Mexican mestizo population. However, a haplotype shaped by both major alleles (CT haplotype) is associated with reduced risk for COPD.
蛋白酶抑制剂 S (PiS) 和蛋白酶抑制剂 Z (PiZ) 基因变体是与 COPD 相关的主要遗传因素；然而，关于其他多态性的研究很少。本研究旨在评估墨西哥混血人群中与吸烟和生物质燃烧暴露相关的慢性阻塞性肺疾病（COPD）患者中基因的两个错义单核苷酸多态性（SNP）（rs709932 和 rs1303）。对 1700 名受试者进行了基因分型，并分为四组：与吸烟有关的 COPD（COPD-S， = 297）、与生物质燃烧暴露有关的 COPD（COPD-BB， = 178）、无 COPD 的吸烟者（SWOC， = 674）和生物质燃烧暴露的受试者（BBES， = 551），通过实时 PCR 进行分组。此外，根据患者的加重频率对患者组进行了分组。我们进行了单倍型分析。在未调整和调整分析中，我们都没有发现这些 SNP 在组间的等位基因和基因型频率存在差异，与这些 SNP 和肺功能下降也没有关系。加重的频率与这些 SNP 无关。然而，我们发现一个主要等位基因（CT）的单倍型与 COPD 的风险降低有关（<0.05）。我们的分析表明，基因中的这些与 PiS 和 PiZ（rs709932 和 rs1303）不同的 SNP 与墨西哥混血人群中的 COPD 和肺功能下降无关。然而，由两个主要等位基因（CT 单倍型）构成的单倍型与 COPD 的风险降低有关。
