Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review
Zhumagaliyeva A. Chorostowska-Wynimko J. Jezela-Stanek A.
December 2025Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
2025#26Issue 24
Progressive pulmonary fibrosis (PPF) encompasses fibrosing interstitial lung diseases marked by relentless scarring of the lungs, leading to respiratory failure. Although its pathogenesis remains incompletely understood, recent genetic discoveries have shed light on the molecular mechanisms that drive PPF onset and progression. This comprehensive review summarizes current knowledge of PPF genetics, highlighting both rare pathogenic variants and more common susceptibility polymorphisms. Key genetic contributors include telomere maintenance genes, surfactant protein genes, and the MUC5B promoter variant rs35705950, which is the strongest known genetic risk factor for idiopathic pulmonary fibrosis. We also discuss epigenetic factors such as DNA methylation and histone modifications that regulate fibrotic gene expression. Integrating genetic findings with clinical phenotypes reveals distinct disease endotypes with different prognoses and therapeutic responses, laying the groundwork for precision medicine in PPF treatment. Finally, we address the clinical implications of PPF genetics, including advances in genetic testing, biomarker development, and emerging gene-targeted treatment strategies.
epigenetics , genetic variants , idiopathic pulmonary fibrosis , MUC5B promoter , precision medicine , progressive pulmonary fibrosis , surfactant protein genes , telomere biology genes
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Department of Family Medicine No.2, Astana Medical University, Astana, 010000, Kazakhstan
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, 01-138, Poland
Department of Family Medicine No.2
Department of Genetics and Clinical Immunology
10 лет помогаем публиковать статьи Международный издатель
Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026