Incorporating genetics into the identification and treatment of Idiopathic Pulmonary Fibrosis

BMC Medicine

David A. Schwartz¹  Marvin I. Schwarz¹  Ivana V. Yang¹  Susan K. Mathai¹ 

[1] Division of Pulmonary Sciences and Critical Care Medicine, Department of Medicine, University of Colorado Denver, Anschutz Medical Campus, 12631 East 17th Avenue, Aurora 80045, CO, USA

关键词: Telomere;    TERT;    TERC;    Pulmonary fibrosis;    Mucin;    MUC5B;    Idiopathic pulmonary fibrosis;    Familial pulmonary fibrosis;    DSP;   

Others  :  1227204
DOI  :  10.1186/s12916-015-0434-0

 received in 2015-05-02, accepted in 2015-07-24,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Mathai et al.

【 图 表 】

Fig. 1.

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