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慢性呼吸道疾病的遗传学

Genetics of chronic respiratory disease.

作者信息

Sayers Ian, John Catherine, Chen Jing, Hall Ian P

机构信息

NIHR Nottingham Biomedical Research Centre, University of Nottingham, University Park, Nottingham, UK.

Biodiscovery Institute, School of Medicine, University of Nottingham, University Park, Nottingham, UK.

出版信息

Nat Rev Genet. 2024 Aug;25(8):534-547. doi: 10.1038/s41576-024-00695-0. Epub 2024 Mar 6.

Abstract

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.

摘要

慢性呼吸道疾病,如慢性阻塞性肺疾病(COPD)、哮喘和间质性肺疾病,是常见的多基因疾病,在全球范围内造成了巨大的发病和死亡负担。最近的大规模遗传流行病学研究已经确定了基因变异与个体呼吸道疾病之间的关联,并将特定的基因变异与肺功能相关的数量性状联系起来。这些关联加深了我们对常见肺部疾病的遗传基础和潜在机制的理解。此外,研究不同呼吸道疾病的遗传关联之间的重叠,以及基因-环境相互作用的证据,为受影响的分子途径提供了更多的生物学见解。这些遗传信息可以为呼吸道疾病风险评估提供依据,并有助于分层治疗方法的制定。

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