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Review
. 2019 Sep 25;28(153):190053.
doi: 10.1183/16000617.0053-2019. Print 2019 Sep 30.

The genetics of interstitial lung diseases

Raphael Borie  1   2 , Pierre Le Guen  1   2 , Mada Ghanem  1   2 , Camille Taillé  1   2 , Clairelyne Dupin  1   2 , Philippe Dieudé  2   3 , Caroline Kannengiesser  2   4 , Bruno Crestani  5   2
Affiliations
Review

The genetics of interstitial lung diseases

Raphael Borie et al. Eur Respir Rev. .

Abstract

Interstitial lung diseases (ILDs) are a set of heterogeneous lung diseases characterised by inflammation and, in some cases, fibrosis. These lung conditions lead to dyspnoea, cough, abnormalities in gas exchange, restrictive physiology (characterised by decreased lung volumes), hypoxaemia and, if progressive, respiratory failure. In some cases, ILDs can be caused by systemic diseases or environmental exposures. The ability to treat or cure these ILDs varies based on the subtype and in many cases lung transplantation remains the only curative therapy. There is a growing body of evidence that both common and rare genetic variants contribute to the development and clinical manifestation of many of the ILDs. Here, we review the current understanding of genetic risk and ILD.

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Conflict of interest statement

Conflict of interest: R. Borie reports personal fees and non-financial support from Roche, and Boehringer Ingelheim, outside the submitted work. Conflict of interest: P. Le Guen has nothing to disclose. Conflict of interest: M. Ghanem has nothing to disclose. Conflict of interest: C. Taillé has received personal fees and other funding from AstraZeneca and Roche, personal fees from Teva and Genzyme, grants, personal fees and other from GlaxoSmithKline, Novartis and Sanofi, and other funding from Boehringer Ingelheim. Conflict of interest: C. Dupin reports personal fees, non-financial support and other from AstraZeneca, Boehringer, GlaxoSmithKline and Novartis, personal fees and other from Chiesi, personal fees from Sanofi, and non-financial support and other from Roche, outside the submitted work. Conflict of interest: P. Dieudé has nothing to disclose. Conflict of interest: C. Kannengiesser has nothing to disclose. Conflict of interest: B. Crestani reports personal fees from AstraZeneca, grants, personal fees and non-financial support from Boehringer Ingelheim and Roche, personal fees and non-financial support from Sanofi, and grants from Novartis, outside the submitted work.

Figures

FIGURE 1
FIGURE 1
High-resolution computed tomography imaging of usual interstitial pneumonia: a) a patient with idiopathic pulmonary fibrosis (IPF) and carrier of rs35705950 within MUC5B, b) a patient with IPF and carrier of a TERC mutation and c) a patient with rheumatoid arthritis-interstitial lung disease and carrier of rs35705950.
FIGURE 2
FIGURE 2
High-resolution computed tomography of a) non-usual interstitial pneumonia (UIP) pattern (indeterminate) with ground-glass opacities and reticulation associated with a SFTPA1 mutation, and b, c) non-UIP pattern (indeterminate) with ground-glass opacities and cysts from two patients, both carriers of a compound heterozygous ABCA3 mutation. d) Pattern suggestive of pleuroparenchymal fibroelastosis associated with a TERT mutation.
See this image and copyright information in PMC

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