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Published on: September 20, 2024
The genetics of interstitial lung diseases
Raphael Borie1,2, Pierre Le Guen1,2, Mada Ghanem1,2
1Service de Pneumologie A, Hôpital Bichat, AP-HP, Paris, France.
Genetic variants are increasingly recognized as contributors to interstitial lung diseases (ILDs), a group of inflammatory lung conditions. This review explores the current understanding of genetic risk factors in the development and manifestation of ILDs.
Area of Science:
- Pulmonology
- Genetics
- Immunology
Background:
- Interstitial lung diseases (ILDs) encompass diverse lung conditions marked by inflammation and fibrosis.
- These diseases cause symptoms like dyspnea and cough, leading to impaired gas exchange, restrictive lung physiology, hypoxemia, and potentially respiratory failure.
- While some ILDs stem from systemic diseases or environmental factors, treatment efficacy varies, with lung transplantation often being the only cure.
Purpose of the Study:
- To review the current understanding of genetic risk factors in interstitial lung diseases.
- To explore the contribution of common and rare genetic variants to ILD development and clinical presentation.
Main Methods:
- Literature review of existing research on genetic contributions to ILDs.
- Synthesis of current knowledge on genetic variants and their role in ILD pathogenesis.
Main Results:
- Growing evidence indicates that both common and rare genetic variants play a significant role in the development of various ILDs.
- Genetic factors influence the clinical manifestation and potentially the progression of these lung conditions.
Conclusions:
- Genetic predisposition is an important factor in the etiology of many interstitial lung diseases.
- Understanding genetic risk factors is crucial for advancing ILD research and therapeutic strategies.
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