Department of Pulmonary Medicine, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan.
Allergol Int. 2009 Sep;58(3):315-22. doi: 10.2332/allergolint.09-RAI-0105. Epub 2009 Jul 25.
Asthma and COPD are complex diseases with strong genetic and environmental components. These common pulmonary diseases have both different and similar clinical features. Molecular genetic techniques are being used to improve understanding of these common late onset disorders. Recently, several genes and genetic loci associated with increased susceptibility to asthma and COPD have been described. Many of these genes are expressed in the lung tissues, indicating that events in lung tissues might drive disease processes. Lung tissues are rich sources of innate danger signals, and an increased understanding of how the lung tissues communicate with the immune system to maintain healthy tissue might provide new insights into the pathogenesis of chronic inflammatory lung diseases in which injury and repair are in disequilibrium. Given that the innate immune system is at the interface between the airways and environmental insults, genetic polymorphisms in genes related to the innate immune system are likely to affect susceptibility to both asthma and COPD. In addition, some findings from genetic studies provide molecular support for the point of view proposed in the Dutch hypothesis regarding the relationship between asthma and COPD, which highlights the complexity of the pathways that can induce small airway disease and suggests that there is a continuum between asthma and COPD.
哮喘和 COPD 是具有强烈遗传和环境因素的复杂疾病。这些常见的肺部疾病既有不同的临床特征，也有相似的临床特征。分子遗传学技术正被用于提高对这些常见的迟发性疾病的认识。最近，已经描述了几个与哮喘和 COPD 易感性增加相关的基因和遗传位点。这些基因中的许多在肺部组织中表达，表明肺部组织中的事件可能驱动疾病进程。肺部组织是先天危险信号的丰富来源，对肺部组织如何与免疫系统相互作用以维持健康组织的深入了解，可能为慢性炎症性肺部疾病的发病机制提供新的见解，在这些疾病中，损伤和修复处于失衡状态。鉴于先天免疫系统位于气道和环境损伤之间的界面，与先天免疫系统相关的基因中的遗传多态性可能会影响哮喘和 COPD 的易感性。此外，遗传研究的一些发现为荷兰假说中提出的关于哮喘和 COPD 之间关系的观点提供了分子支持，该假说强调了可诱导小气道疾病的途径的复杂性，并表明哮喘和 COPD 之间存在连续性。
