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Pulmonary Fibrosis: Hereditary and Non-hereditary—What Are the Role of Genetic Factors in the Pathogenesis of Pulmonary Fibrosis?

  • Takafumi Suda
Chapter
Part of the Respiratory Disease Series: Diagnostic Tools and Disease Managements book series (RDSDTDM)

Abstract

Pulmonary fibrosis is a diverse group of disorders with various etiologies and characterized by varying patterns of lung inflammation and fibrosis. To date, familial aggregation has been noted even in idiopathic pulmonary fibrosis (IPF), suggesting genetic background of pulmonary fibrosis. Over the past decade, remarkable progress has been made in understanding the genetic causes of pulmonary fibrosis. For instance, investigations of familial interstitial pneumonia (FIP) have identified rare genetic variants in genes related to surfactant and telomere biology. Large genome-wide association and linkage studies have also uncovered common genetic variants that confer the risk of pulmonary fibrosis, including genes associated with mucus secretion, telomerase function, and immunity. Further, functional studies of these rare as well as common genetic variants have provided novel insights into pathophysiology of pulmonary fibrosis. More importantly, genetic factors also determine response to treatment and outcome in patients with pulmonary fibrosis. Moving forward, next-generation and high-throughput sequencing will probably identify additional causative genes and pathways. Ultimately, combined analysis of genetic and environmental factors, including epigenetic modifications, will further improve our understanding of this disease, possibly leading to the development of novel, more effective therapies.

Keywords

Pulmonary fibrosis Familial interstitial pneumonia Surfactant Telomerase Mucin 

Notes

Acknowledgement

I thank Prof. Tamio Suzuki (Department of Dermatology, Yamagata University School of Medicine) and Prof. Yasuhiro Setoguchi (Department of Pulmonary Medicine, Tokyo Medical University) for performing genetic analysis.

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© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  1. 1.Second Division, Department of Internal MedicineHamamatsu University School of MedicineShizuokaJapan

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