Journal Article

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

Manzini, Elisa, Pacchetti, Lucia, Andrisani, Dario, Beghè, Bianca, Raineri, Giulia, Turchiano, Maria Giulia, Nori, Ottavia, Tonelli, Roberto, Cerri, Stefania, Samarelli, Anna Valeria, Clini, Enrico, Rossi, Laura, Gozzi, Filippo

2024

Overview

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.

• Publisher: MDPI AG
• Subject: Development and progression / DNA Methylation / Epigenesis, Genetic / Epigenetic inheritance / Epigenetics / familial pulmonary fibrosis / Gene mutations / Genes / Genetic aspects / Genetic Predisposition to Disease / Humans / idiopathic pulmonary fibrosis / Idiopathic Pulmonary Fibrosis - genetics / interstitial lung disease / Li Siguang / Liver cirrhosis / Lung diseases / Lung Diseases, Interstitial - diagnosis / Lung Diseases, Interstitial - genetics / Methylation / Mucin-5B - genetics / Mutation / Proteins / Rheumatoid factor / Risk Factors / Surface active agents / surfactant proteins / telomere-related genes / Telomeres / Yeast