Recent advances in the genetics of idiopathic pulmonary fibrosis.

ABSTRACT:

Purpose of review

Genetics contributes substantially to the susceptibility to idiopathic pulmonary fibrosis (IPF). Genetic studies in sporadic and familial disease have identified several IPF-associated variants, mainly in telomere-related and surfactant protein genes.Here, we review the most recent literature on genetics of IPF and discuss how it may contribute to disease pathogenesis.

Recent findings

Recent studies implicate genes involved in telomere maintenance, host defence, cell growth, mammalian target of rapamycin signalling, cell-cell adhesion, regulation of TGF-β signalling and spindle assembly as biological processes involved in the pathogenesis of IPF. Both common and rare genetic variants contribute to the overall risk of IPF; however, while common variants (i.e

SUBMITTER: Spagnolo P 

PROVIDER: S-EPMC10470435 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature