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Eur Respir J. 2015 Jun;45(6):1717-27. doi: 10.1183/09031936.00163814. Epub 2015 Apr 2.

The genetic basis of idiopathic pulmonary fibrosis.

Author information

1
Division of Allergy, Pulmonary and Critical Care Medicine, Dept of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA jon.kropski@vanderbilt.edu.
2
Division of Allergy, Pulmonary and Critical Care Medicine, Dept of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA Dept of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA Dept of Cancer Biology, Vanderbilt University School of Medicine, Nashville, TN, USA Department of Veterans Affairs Medical Center, Nashville, TN, USA.
3
Division of Allergy, Pulmonary and Critical Care Medicine, Dept of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.

Abstract

Throughout the past decade, there have been substantial advances in understanding the pathogenesis of idiopathic pulmonary fibrosis (IPF). Recently, several large genome-wide association and linkage studies have identified common genetic variants in more than a dozen loci that appear to contribute to IPF risk. In addition, family-based studies have led to the identification of rare genetic variants in genes related to surfactant function and telomere biology, and mechanistic studies suggest pathophysiological derangements associated with these rare genetic variants are also found in sporadic cases of IPF. Current evidence suggests that rather than existing as distinct syndromes, sporadic and familial cases of IPF (familial interstitial pneumonia) probably reflect a continuum of genetic risk. Rapidly evolving bioinformatic and molecular biology techniques, combined with next-generation sequencing technologies, hold great promise for developing a comprehensive, integrated approach to defining the fundamental molecular mechanisms that underlie IPF pathogenesis.

Comment in

PMID:
25837031
PMCID:
PMC4849867
DOI:
10.1183/09031936.00163814
[Indexed for MEDLINE]
Free PMC Article

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