The genetic basis of idiopathic pulmonary fibrosis

JA Kropski, TS Blackwell… - European Respiratory …, 2015 - Eur Respiratory Soc
European Respiratory Journal, 2015Eur Respiratory Soc
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 …
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.
European Respiratory Society