Cic edizioni internazionali
Shortness of Breath

Genetics of idiopathic pulmonary fibrosis

Mini-Review, 45 - 50
doi: 10.11138/sob/2016.5.2.045
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Idiopathic pulmonary fibrosis (IPF) is a chronic and invariably lethal lung disorder, of unknown origin and for which there is no cure. Whilst uncertainty remains about the leading cause/s, the disease is believed to occur in genetically susceptible hosts as a consequence of an aberrant woundhealing response following repetitive alveolar microinjury, resulting in scarring of the lung paren - chyma and irreversible loss of function. The heterogeneous radiological and histopathologic appearances coupled with its variable disease behaviour and rate of progression suggest that in IPF a multitude of genetic and nongenetic factors interacting with each other are at play. Such factors however are largely unknown. Familial clustering of cases and the occurrence of pulmonary fibrosis in the context of rare genetic disorders (e.g. Hermansky-Pudlak syndrome and dyskeratosis congenita) indicate that genetic predisposition contributes significantly to the pathogenesis of IPF. Genome-wide association and linkage studies have recently identified several rare and common genetic variants that confer susceptibility to both familial and sporadic IPF. These discoveries have the potential to increase our understanding of disease pathogenesis and facilitate the development of targeted more effective therapies.