Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Jan 31;20(3):329-345.
doi: 10.7150/ijms.80358. eCollection 2023.

Genomic Fingerprint Associated with Familial Idiopathic Pulmonary Fibrosis: A Review

Dongyan Ding  1 , Rong Gao  1 , Qianfei Xue  2 , Rumei Luan  1 , Junling Yang  1
Affiliations
Review

Genomic Fingerprint Associated with Familial Idiopathic Pulmonary Fibrosis: A Review

Dongyan Ding et al. Int J Med Sci. .

Abstract

Idiopathic pulmonary fibrosis (IPF) is a severe interstitial lung disease; although the recent introduction of two anti-fibrosis drugs, pirfenidone and Nidanib, have resulted in a significant reduction in lung function decline, IPF is still not curable. Approximately 2-20% of patients with IPF have a family history of the disease, which is considered the strongest risk factor for idiopathic interstitial pneumonia. However, the genetic predispositions of familial IPF (f-IPF), a particular type of IPF, remain largely unknown. Genetics affect the susceptibility and progression of f-IPF. Genomic markers are increasingly being recognized for their contribution to disease prognosis and drug therapy outcomes. Existing data suggest that genomics may help identify individuals at risk for f-IPF, accurately classify patients, elucidate key pathways involved in disease pathogenesis, and ultimately develop more effective targeted therapies. Since several genetic variants associated with the disease have been found in f-IPF, this review systematically summarizes the latest progress in the gene spectrum of the f-IPF population and the underlying mechanisms of f-IPF. The genetic susceptibility variation related to the disease phenotype is also illustrated. This review aims to improve the understanding of the IPF pathogenesis and facilitate his early detection.

Keywords: Familial idiopathic pulmonary fibrosis; Mucin 5B; Sporadic idiopathic pulmonary fibrosis; Surfactant-related gene.; Telomerase-associated gene.

PubMed Disclaimer

Conflict of interest statement

Competing Interests: The authors have declared that no competing interest exists.

Figures

Fig 1
Fig 1
Role of short telomeres in PF.
Fig 2
Fig 2
Eight telomerase and telomere maintenance genes are mutated in f-IPF. The mutated components are shown in color.
Fig 3
Fig 3
Possible influencing factors of MUC5B expression and its role in airways.
Fig 4
Fig 4
Core mechanisms and candidate molecular biomarkers of idiopathic pulmonary fibrosis.
See this image and copyright information in PMC

References

    1. Alfaro TM, Moor CC, Alfieri V, Jeny F, Kreuter M, Wijsenbeek MS, Research highlights from the 2018 ERS International Congress: interstitial lung diseases. ERJ Open Res. 2019. 5(1) - PMC - PubMed
    1. Fernandez BA, Fox G, Bhatia R, Sala E, Noble B, Denic N. et al. A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features. Respir Res. 2012;13(1):64. - PMC - PubMed
    1. Raghu G, Remy-Jardin M, Myers JL, Richeldi L, Ryerson CJ, Lederer DJ. et al. Diagnosis of Idiopathic Pulmonary Fibrosis. An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline. Am J Respir Crit Care Med. 2018;198(5):e44–e68. - PubMed
    1. Wells AU, Kouranos V. An IPF-like disease course in disorders other than IPF: how can this be anticipated, recognized, and managed? Expert Rev Clin Immunol. 2021;17(10):1091–101. - PubMed
    1. Saito S, Alkhatib A, Kolls JK, Kondoh Y, Lasky JA. Pharmacotherapy and adjunctive treatment for idiopathic pulmonary fibrosis (IPF) J Thorac Dis. 2019;11(Suppl 14):S1740–s54. - PMC - PubMed