García-Carmona Salvador, Falfán-Valencia Ramcés, Fernández-López Juan C, Ramírez-Venegas Alejandra, Morales-González Fernando, Ramírez-Díaz María E, Cruz-Vicente Filiberto, Martínez-Gómez María L, Hernández-Zenteno Rafael, Fricke-Galindo Ingrid, Sansores Raúl, Pérez-Rubio Gloria
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico.
Consorcio de Genómica Computacional, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City, Mexico.
Epigenomics. 2025 Aug;17(12):793-801. doi: 10.1080/17501911.2025.2535966. Epub 2025 Jul 23.
Exposure to smoke from biomass combustion is a significant environmental risk factor for chronic obstructive pulmonary disease (COPD). Through epigenome-wide association studies (EWAS), changes in DNA methylation levels associated with pathological conditions can be identified. We aimed to determine the methylation patterns in genes involved in the development of COPD resulting from exposure to biomass-burning smoke (COPD-BBS).
EWAS was conducted on induced sputum samples from 45 women with stable COPD (COPD-BBS) exposure and 45 women exposed to BBS but without the disease (BBES). Proteins whose genes showed significant differences in methylation and were soluble in the induced sputum supernatant were quantified.
205 CpG sites were found differentially hypomethylated, and 420 were hypermethylated. The top 50 show genes associated with lung remodeling ( = 0.002, = 0.012, = 0.044), the immune system ( = 0.005, = 0.047), mucus production ( = 0.04), and xenobiotic metabolism ( = 0.02). Of the proteins evaluated, endothelin-1 was decreased in the reference group compared to patients ( = 0.00054).
Gene methylation changes are linked to lung remodeling, immune response, mucus production, and xenobiotic metabolism. Hypermethylation of the cg08450425 site () is significant in women with COPD and associated with low endothelin-1 levels.
接触生物质燃烧产生的烟雾是慢性阻塞性肺疾病（COPD）的一个重要环境风险因素。通过全基因组关联研究（EWAS），可以识别与病理状况相关的DNA甲基化水平变化。我们旨在确定因接触生物质燃烧烟雾（COPD - BBS）导致的COPD发展过程中相关基因的甲基化模式。
对45名稳定期COPD女性（COPD - BBS）和45名接触生物质燃烧烟雾但未患该病的女性（BBES）的诱导痰样本进行EWAS。对基因甲基化存在显著差异且可溶于诱导痰上清液的蛋白质进行定量分析。
发现205个CpG位点存在差异低甲基化，420个存在高甲基化。排名前50的基因与肺重塑（P = 0.002，P = 0.012，P = 0.044）、免疫系统（P = 0.005，P = 0.047）、黏液分泌（P = 0.04）和外源性物质代谢（P = 0.02）相关。在所评估的蛋白质中，与患者相比，参考组中的内皮素 - 1水平降低（P = 0.00054）。
基因甲基化变化与肺重塑、免疫反应、黏液分泌和外源性物质代谢有关。cg08450425位点（P值）的高甲基化在COPD女性中具有显著性，且与低内皮素 - 1水平相关。
