• Medicina · Nov 2024

    Review

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

    • Stefania Cerri, Elisa Manzini, Ottavia Nori, Lucia Pacchetti, Laura Rossi, Maria Giulia Turchiano, Anna Valeria Samarelli, Giulia Raineri, Dario Andrisani, Filippo Gozzi, Bianca Beghè, Enrico Clini, and Roberto Tonelli.
    • Respiratory Disease Unit, University Hospital of Modena, 41124 Modena, Italy.
    • Medicina (Kaunas). 2024 Nov 29; 60 (12).

    AbstractRecent 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.

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