Year: 2021
Type: review
Abstract: : Idiopathic pulmonary fibrosis is an etiologically complex interstitial lung disease characterized by progressive scarring of the lungs with a subsequent decline in lung function. While much of the pathogenesis of IPF still remains unclear, it is now understood that genetic variation accounts for at least one-third of the risk of developing the disease. The single-most validated and most significant risk factor, genetic or otherwise, is a gain-of-function promoter variant in the MUC5B gene. While the functional impact of these IPF risk variants at the cellular and tissue levels are areas of active investigation, there is a growing body of evidence that these genetic variants may influence disease pathogenesis through modulation of innate immune processes. Keywords: pulmonary fibrosis, interstitial lung disease, genetics, MUC5B, host defense, innate immunity
Source: Journal of Inflammation Research
DOI: 10.2147/jir.s280958
Authors: Jacob E Michalski, David A Schwartz
Institution: University of Colorado Anschutz
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,836
OpenAlex ID: W3118595812