Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis

J Inflamm Res. 2021 Jan 5;13:1305-1318. doi: 10.2147/JIR.S280958. eCollection 2020.


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: MUC5B; genetics; host defense; innate immunity; interstitial lung disease; pulmonary fibrosis.

Publication types

  • Review