Genetic Risk Factors for Idiopathic Pulmonary Fibrosis: Insights into Immunopathogenesis
| Autor: | Jacob E. Michalski, David A. Schwartz |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Immunology Review Disease MUC5B Pathogenesis 03 medical and health sciences Idiopathic pulmonary fibrosis 0302 clinical medicine Genetic variation Pulmonary fibrosis Immunology and Allergy Medicine genetics Genetic risk innate immunity interstitial lung disease Innate immune system pulmonary fibrosis business.industry Interstitial lung disease respiratory system medicine.disease respiratory tract diseases 030104 developmental biology host defense 030220 oncology & carcinogenesis business |
| Zdroj: | Journal of Inflammation Research |
| ISSN: | 1178-7031 |
| DOI: | 10.2147/jir.s280958 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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