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Genetics of Interstitial Lung Diseases: A State-of-the-Art Review

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journal contribution
posted on 2025-09-25, 11:09 authored by Nicole Ng, Maria Molina-Molina, Ayodeji Adegunsoye, Raphael Borie, Chad A Newton, Benjamin Raby, David Zhang, Maria Padilla, Bruno Crestani, Marshall S Horwitz, Siobán Keel, Michael F Murray, Andrew B Stergachis, Shandra Knight, Christine K Garcia, Louise WainLouise Wain, Ganesh Raghu
Advancements in genetics and genomics continue to further our understanding of their contributions to the development of interstitial lung diseases. This state-of-the-art clinical review synthesizes current knowledge of the contribution of genetics when evaluating patients suspected to have ILD. We consider highly penetrant Mendelian disorders as well as common variants conferring smaller risk that act in concert with other genetic and acquired risk factors. Additionally, gene-by-environment and pharmacogenomic interactions are discussed to highlight their impact on disease course. Lastly, the approach to genetic ILDs is reviewed from available testing to future directions.<p></p>

History

Author affiliation

College of Life Sciences Medical Sciences

Version

  • AM (Accepted Manuscript)

Published in

European Respiratory Journal

Pagination

2500788

Publisher

European Respiratory Society (ERS)

issn

0903-1936

eissn

1399-3003

Copyright date

2025

Available date

2025-09-25

Spatial coverage

England

Language

en

Deposited by

Professor Louise Wain

Deposit date

2025-09-22

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