Department of Medicine, McMaster University, Hamilton, ON L8N 3Z5, Canada.
Respirology Department, Galway University Hospital, H91 YR71 Galway, Ireland.
Genes (Basel). 2022 Oct 15;13(10):1870. doi: 10.3390/genes13101870.
Asthma is a chronic disease of the airways characterized by inflammation, tightened muscles, and thickened airway walls leading to symptoms such as shortness of breath, chest tightness, and cough in patients. The increased risk of asthma in children of asthmatics parents supports the existence of genetic factors involved in the pathogenesis of this disease. Genome-wide association studies have discovered several single nucleotide polymorphisms associated with asthma. These polymorphisms occur within several genes and can contribute to different asthma phenotypes, affect disease severity, and clinical response to different therapies. The complexity in the etiology of asthma also results from interactions between environmental and genetic factors. Environmental exposures have been shown to increase the prevalence of asthma in individuals who are genetically susceptible. This review summarizes what is currently known about the genetics of asthma in relation to risk, response to common treatments, and gene-environmental interactions.
哮喘是一种气道慢性疾病,其特征为炎症、肌肉收缩和气道壁增厚,导致患者出现呼吸急促、胸闷和咳嗽等症状。哮喘患者的子女患哮喘的风险增加,支持遗传因素在这种疾病的发病机制中起作用。全基因组关联研究发现了几个与哮喘相关的单核苷酸多态性。这些多态性发生在几个基因内,可以导致不同的哮喘表型,影响疾病的严重程度和对不同治疗方法的临床反应。哮喘的病因复杂性还来自于环境和遗传因素之间的相互作用。环境暴露已被证明会增加遗传易感个体中哮喘的患病率。这篇综述总结了目前已知的与风险、常见治疗反应和基因-环境相互作用有关的哮喘遗传学。