Chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD), asthma and interstitial lung diseases are frequently occurring disorders with a polygenic basis that account for a large global burden of morbidity and mortality. Recent large-scale genetic epidemiology studies have identified associations between genetic variation and individual respiratory diseases and linked specific genetic variants to quantitative traits related to lung function. These associations have improved our understanding of the genetic basis and mechanisms underlying common lung diseases. Moreover, examining the overlap between genetic associations of different respiratory conditions, along with evidence for gene–environment interactions, has yielded additional biological insights into affected molecular pathways. This genetic information could inform the assessment of respiratory disease risk and contribute to stratified treatment approaches.

慢性呼吸道疾病，例如慢性阻塞性肺病（COPD）、哮喘和间质性肺病是经常发生的多基因疾病，造成全球发病率和死亡率的巨大负担。最近的大规模遗传流行病学研究已经确定了遗传变异与个体呼吸系统疾病之间的关联，并将特定的遗传变异与肺功能相关的数量特征联系起来。这些关联提高了我们对常见肺部疾病的遗传基础和机制的理解。此外，检查不同呼吸状况的遗传关联之间的重叠以及基因与环境相互作用的证据，已经对受影响的分子途径产生了额外的生物学见解。这些遗传信息可以为呼吸系统疾病风险的评估提供信息，并有助于分层治疗方法。