Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis

Abstract

Jacob E Michalski, David A Schwartz Department of Medicine, University of Colorado School of Medicine, Aurora, CO, USACorrespondence: David A SchwartzUniversity of Colorado School of Medicine, 12631 East 17th Avenue, B178, Aurora, CO 80045, USATel [phone]Fax [phone]Email [email protected]: 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

Keywords

• pulmonary fibrosis
• interstitial lung disease
• genetics
• muc5b
• host defense
• innate immunity