Genetics of chronic respiratory disease

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...

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Bibliographic Details
Published in:Nature reviews. Genetics 2024-08, Vol.25 (8), p.534-547
Main Authors: Sayers, Ian, John, Catherine, Chen, Jing, Hall, Ian P.
Format: Article
Language:English
Subjects:
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Agriculture
Animal Genetics and Genomics
Biomedical and Life Sciences
Biomedicine
Cancer Research
Chronic obstructive pulmonary disease
Epidemiology
Gene Function
Genetic diversity
Human Genetics
Lung diseases
Morbidity
Polygenic inheritance
Respiratory diseases
Respiratory function
Review Article
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Summary: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. In this Review, Sayers et al. summarize findings from recent large-scale genetic epidemiology studies on the genetic underpinnings of chronic respiratory diseases. Furthermore, they outline how insights gained from such studies can improve treatment approaches.
ISSN:1471-0056
1471-0064
1471-0064
DOI:10.1038/s41576-024-00695-0