Incorporating genetics into the identification and treatment of Idiopathic Pulmonary Fibrosis

Background Idiopathic pulmonary fibrosis, the most common form of idiopathic interstitial pneumonia, is characterized by progressive, irreversible scarring of the lung parenchyma. Idiopathic pulmonary fibrosis has a poor prognosis, and there are no medical therapies available that have been shown to...

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Bibliographic Details
Published in:BMC Medicine 2015, Vol.13
Main Authors: Mathai, Susan K, Yang, Ivana V, Schwarz, Marvin I, Schwartz, David A
Format: Report
Language:English
Subjects:
Analysis
Genetic aspects
Medical research
Medicine, Experimental
Mucins
Telomeres
Online Access:Get full text
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Summary:Background Idiopathic pulmonary fibrosis, the most common form of idiopathic interstitial pneumonia, is characterized by progressive, irreversible scarring of the lung parenchyma. Idiopathic pulmonary fibrosis has a poor prognosis, and there are no medical therapies available that have been shown to improve survival. It is usually sporadic, but there is evidence of familial clustering of pulmonary fibrosis, suggesting a genetic basis for this disease. More recently, studies have confirmed that specific genetic variants are associated with both familial and sporadic forms of pulmonary fibrosis. Discussion Although there are common and rare genetic variants that have been associated with the risk of developing pulmonary fibrosis, the genotyping of patients is not a generally accepted strategy. Better understanding of the interplay between genetic risk and environmental exposure is likely needed to inform both treatment and disease prevention. Several identified disease-associated genetic variants have implications for disease progression and survival, but systematic studies of known genetic variants and their influence on therapeutic efficacy are lacking. Future investigations should focus on understanding phenotypic differences between patients carrying different risk alleles, and clinical studies should be designed to control for the influence of different genetic risk variants on patient outcomes. Summary Inherited genetic factors play a significant role in the risk of developing pulmonary fibrosis. Future studies will be needed to characterize patient phenotypes and to understand how these genetic factors will influence clinical decision-making for both diagnosis and treatment of idiopathic pulmonary fibrosis. Keywords: DSP, Familial pulmonary fibrosis, Idiopathic pulmonary fibrosis, MUC5B, Mucin, Pulmonary fibrosis, TERC, TERT, Telomere
ISSN:1741-7015
1741-7015
DOI:10.1186/s12916-015-0434-0