Perez-Garcia Javier, Cardenas Andres, Lorenzo-Diaz Fabian, Pino-Yanes Maria
Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology, and Genetics, Universidad de La Laguna (ULL), La Laguna, Tenerife, Spain.
Department of Epidemiology and Population Health, Stanford University, Stanford, Calif.
J Allergy Clin Immunol. 2025 Feb;155(2):298-315. doi: 10.1016/j.jaci.2024.06.010. Epub 2024 Jun 19.
Asthma is a leading worldwide biomedical concern. Patients can experience life-threatening worsening episodes (exacerbations) usually controlled by anti-inflammatory and bronchodilator drugs. However, substantial heterogeneity in treatment response exists, and a subset of patients with unresolved asthma carry the major burden of this disease. The study of the epigenome and microbiome might bridge the gap between human genetics and environmental exposure to partially explain the heterogeneity in drug response. This review aims to provide a critical examination of the existing literature on the microbiome and epigenetic studies examining associations with asthma treatments and drug response, highlight convergent pathways, address current challenges, and offer future perspectives. Current epigenetic and microbiome studies have shown the bilateral relationship between asthma pharmacologic interventions and the human epigenome and microbiome. These studies, focusing on corticosteroids and to a lesser extent on bronchodilators, azithromycin, immunotherapy, and mepolizumab, have improved the understanding of the molecular basis of treatment response and identified promising biomarkers for drug response prediction. Immune and inflammatory pathways (eg, IL-2, TNF-α, NF-κB, and C/EBPs) underlie microbiome-epigenetic associations with asthma treatment, representing potential therapeutic pathways to be targeted. A comprehensive evaluation of these omics biomarkers could significantly contribute to precision medicine and new therapeutic target discovery.
哮喘是全球主要的生物医学关注问题。患者可能会经历通常由抗炎药和支气管扩张剂控制的危及生命的病情恶化发作(加重)。然而,治疗反应存在很大的异质性,一部分未解决哮喘问题的患者承担了这种疾病的主要负担。表观基因组和微生物组的研究可能会弥合人类遗传学与环境暴露之间的差距,从而部分解释药物反应的异质性。本综述旨在对现有关于微生物组和表观遗传学研究的文献进行批判性审视,这些研究探讨了与哮喘治疗和药物反应的关联,突出趋同途径,解决当前挑战,并提供未来展望。目前的表观遗传学和微生物组研究已经表明哮喘药物干预与人类表观基因组和微生物组之间的双向关系。这些研究主要聚焦于皮质类固醇,在较小程度上关注支气管扩张剂、阿奇霉素、免疫疗法和美泊利单抗,它们增进了对治疗反应分子基础的理解,并确定了用于预测药物反应的有前景的生物标志物。免疫和炎症途径(如白细胞介素 -2、肿瘤坏死因子 -α、核因子 -κB 和 C/EBPs)构成了微生物组 - 表观遗传学与哮喘治疗关联的基础,代表了有待靶向的潜在治疗途径。对这些组学生物标志物进行全面评估可能会显著推动精准医学和新治疗靶点的发现。