Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 Nov 29;60(12):1967.
doi: 10.3390/medicina60121967.

Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences

Stefania Cerri  1   2   3 , Elisa Manzini  4   5 , Ottavia Nori  4   6 , Lucia Pacchetti  4   7 , Laura Rossi  4   8 , Maria Giulia Turchiano  1   4 , Anna Valeria Samarelli  2   3 , Giulia Raineri  2 , Dario Andrisani  1   3 , Filippo Gozzi  1   3 , Bianca Beghè  1 , Enrico Clini  1   2   3 , Roberto Tonelli  1   2   3
Affiliations
Review

Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences

Stefania Cerri et al. Medicina (Kaunas). .

Abstract

Recent advances in genetics and epigenetics have provided critical insights into the pathogenesis of both idiopathic and non-idiopathic interstitial lung diseases (ILDs). Mutations in telomere-related genes and surfactant proteins have been linked to familial pulmonary fibrosis, while variants in MUC5B and TOLLIP increase the risk of ILD, including idiopathic pulmonary fibrosis and rheumatoid arthritis-associated ILD. Epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs such as miR-21 and miR-29, regulate fibrotic pathways, influencing disease onset and progression. Although no standardized genetic panel for ILD exists, understanding the interplay of genetic mutations and epigenetic alterations could aid in the development of personalized therapeutic approaches. This review highlights the genetic and epigenetic factors driving ILD, emphasizing their potential for refining diagnosis and treatment.

Keywords: DNA methylation; MUC5B variants; TOLLIP; epigenetics; familial pulmonary fibrosis; fibrosis pathways; idiopathic pulmonary fibrosis; interstitial lung disease; non-coding RNAs; personalized medicine; surfactant proteins; telomere-related genes.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Classification of interstitial lung diseases.
See this image and copyright information in PMC

References

    1. Maher T.M. Interstitial Lung Disease: A Review. JAMA. 2024;331:1655–1665. doi: 10.1001/jama.2024.3669. - DOI - PubMed
    1. Travis W.D., Costabel U., Hansell D.M., King T.E., Lynch D.A., Nicholson A.G., Ryerson C.J., Ryu J.H., Selman M., Wells A.U., et al. An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias. Am. J. Respir. Crit. Care Med. 2013;188:733–748. doi: 10.1164/rccm.201308-1483ST. - DOI - PMC - PubMed
    1. Tirelli C., Pesenti C., Miozzo M., Mondoni M., Fontana L., Centanni S. The Genetic and Epigenetic Footprint in Idiopathic Pulmonary Fibrosis and Familial Pulmonary Fibrosis: A State-of-the-Art Review. Diagnostics. 2022;12:3107. doi: 10.3390/diagnostics12123107. - DOI - PMC - PubMed
    1. Molyneaux P.L., Maher T.M. The role of infection in the pathogenesis of idiopathic pulmonary fibrosis. Eur. Respir. Rev. 2013;22:376–381. doi: 10.1183/09059180.00000713. - DOI - PMC - PubMed
    1. Spagnolo P., Grunewald J., Du Bois R.M. Genetic determinants of pulmonary fibrosis: Evolving concepts. Lancet Respir. Med. 2014;2:416–428. doi: 10.1016/S2213-2600(14)70047-5. - DOI - PubMed

LinkOut - more resources