Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine.

ABSTRACT: Idiopathic pulmonary fibrosis (IPF) is a chronic, rare progressive lung disease, characterized by lung scarring and the irreversible loss of lung function. Two anti-fibrotic drugs, nintedanib and pirfenidone, have been demonstrated to slow down disease progression, although IPF mortality remains a challenge and the patients die after a few years from diagnosis. Rare pathogenic variants in genes that are involved in the surfactant metabolism and telomere maintenance, among others, have a high penetrance and tend to co-segregate with the disease in families. Common recurrent variants in the population with modest effect sizes have been also associated with the disease risk and progression. Genome-wide association studies (GWAS) support at least 23 genetic risk loci, linking the disease patho

SUBMITTER: Alonso-Gonzalez A 

PROVIDER: S-EPMC10172674 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature