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.
Abstract
Emerging genetic studies offer new insights into the fundamental mechanisms of pulmonary fibrosis http://ow.ly/KK9Q3
Footnotes
Conflict of interest: None declared.
Support statement: This study was funded by the US Department of Health and Human Services, National Institutes of Health (HL085317, HL092870, HL94296). Funding information for this article has been deposited with FundRef.
- Received September 4, 2014.
- Accepted March 17, 2015.
- Copyright ©ERS 2015