# An Overview of the Role of Genetic factors in Idiopathic Pulmonary Fibrosis: Insights from Epidemiology to Prognosis

**Authors:** Jiahao Liu, Zihan Yi, Ting Chen, Yinghua Ying, Yue Hu

PMC · DOI: 10.7150/ijms.113226 · International Journal of Medical Sciences · 2025-06-12

## TL;DR

This paper reviews how genetic factors influence the development and progression of idiopathic pulmonary fibrosis, a lung disease with poor prognosis.

## Contribution

The paper provides a comprehensive overview of genetic variations and their roles in idiopathic pulmonary fibrosis, emphasizing personalized therapy.

## Key findings

- Genetic variations in MUC5B, telomerase complex, and surfactant proteins impact IPF development and progression.
- Genetic susceptibility influences both familial and sporadic forms of IPF.
- Integrating genetic knowledge can improve diagnosis, treatment, and prognosis in IPF.

## Abstract

Idiopathic pulmonary fibrosis (IPF), a chronic progressive fibrosing interstitial lung disease with an unclear etiology, is characterized by progressive respiratory impairment and a median survival of 3-5 years. The pathophysiology associated with genetic factors in IPF remains largely unknown, despite the fact that both familial and sporadic IPF exhibit genetic susceptibility. In this review, we comprehensively examine genetic variations associated with the functional roles of mucin 5B (MUC5B), telomerase complex, surfactant proteins, cytokines, signaling pathways, and epigenetic mechanisms. A multifaceted perspective derived from genetic, epidemiological, and clinical studies demonstrates that genetic variations exert differential impacts on the development, progression, and prognosis of IPF. We advocate for the application of genetic knowledge to facilitate the refinement of diagnostic approaches, enhance the assessment of therapeutic strategies and prognostic outcomes, and underscore the significance of personalized therapy for IPF.

## Linked entities

- **Genes:** MUC5B (mucin 5B, oligomeric mucus/gel-forming) [NCBI Gene 727897]
- **Diseases:** idiopathic pulmonary fibrosis (MONDO:0800029), IPF (MONDO:0800504)

## Full-text entities

- **Genes:** MUC5B (mucin 5B, oligomeric mucus/gel-forming) [NCBI Gene 727897] {aka MG1, MUC-5B, MUC5, MUC9}
- **Diseases:** IPF (MESH:D054990), respiratory impairment (MESH:D012131), interstitial lung disease (MESH:D017563)

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12244033/full.md

## References

110 references — full list in the complete paper: https://tomesphere.com/paper/PMC12244033/full.md

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Source: https://tomesphere.com/paper/PMC12244033