Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs.

ABSTRACT: Pulmonary fibrosis is the main cause of severe morbidity and mortality in idiopathic interstitial pneumonias (IIP). In the past years, there has been major progress in the discovery of genetic factors that contribute to disease. Genes with highly penetrant mutations or strongly predisposing common risk alleles have been identified in familial and sporadic IIP. This review summarizes genes harbouring causative rare mutations and replicated common predisposing alleles. To date, rare mutations in nine different genes and five risk alleles fulfil this criterion. Mutated genes represent three genes involved in surfactant homeostasis and six genes involved in telomere maintenance. We summarize gene function, gene expressing cells, and pathological consequences of genetic alterations associated w

SUBMITTER: van Moorsel CH 

PROVIDER: S-EPMC4619788 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature