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Updated: Sep 10, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Genetics of interstitial lung diseases: a state-of-the-art review
Nicole Ng1, Maria Molina-Molina2, Ayodeji Adegunsoye3
1Division of Pulmonary, Critical Care, and Sleep Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
None:
Advancements in genetics and genomics continue to further our understanding of their contributions to the development of interstitial lung diseases (ILDs). This state-of-the-art clinical review synthesises 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.
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