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Genetics of chronic respiratory disease

Nature Reviews Genetics (2024)Cite this article

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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.

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Fig. 1: Workflow for variant-to-gene mapping.
Fig. 2: Spirometry and lung function traits.
Fig. 3: Key genes and pathways implicated by GWASs of lung function.
Fig. 4: Genes and pathways identified in GWASs of asthma targeted by recently developed biological therapies.
Fig. 5: Circle plot of genetic loci implicated in one or more respiratory trait.

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Acknowledgements

The authors thank R. Allen, K. Fawcett and M. Saward for their assistance with Fig. 5, K. Bingham for the original development of Fig. 4, and A. Izquierdo for the original development of Fig. 2.

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Authors and Affiliations

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

    Ian Sayers & Ian P. Hall

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

    Ian Sayers & Ian P. Hall

  3. University of Leicester, Leicester, UK

    Catherine John & Jing Chen

  4. University Hospitals of Leicester, Leicester, UK

    Catherine John

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All authors researched the literature. C.J., I.P.H. and I.S. contributed substantially to discussions of the content. All authors wrote the article and reviewed and/or edited the manuscript before submission.

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Sayers, I., John, C., Chen, J. et al. Genetics of chronic respiratory disease. Nat Rev Genet (2024). https://doi.org/10.1038/s41576-024-00695-0

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