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Advisor(s)
Abstract(s)
Progressive fibrosing ILDs (PF-ILDs) comprise a heterogeneous group of lung disorders associated with high morbidity and mortality, that exhibit a continuous worsening phenotype despite standard treatment. Among PF-ILDs are pulmonary fibrosis (IPF) and fibrotic hypersensitivity pneumonitis (HP), involving complex interactions between host genetics and different environmental triggers, shaping the immune milieu that ultimately drives the fibrotic cascade in a susceptible patient. The MUC5B promoter variant rs35705950 is the common genetic variant associated with the greatest risk of developing IPF. As IPF and fibrotic HP present phenotypic resemblances, we aim to analyze the role of rs35705950 MUC5B single nucleotide polymorphism (SNP) in common molecular pathways linked to PF-ILDs. Herein, taking advantage of our extensive ILD patients’ cohort, we found that MUC5B rs35705950 GT and TT genotypes frequency was dramatically increased in IPF and fibrotic HP compared to healthy controls.
Description
Keywords
Interstitial lung disease Hypersensitivity pneumonitis MUC5B Single nucleotide polymorphism Bronchoalveolar lavage
Citation
Santos, R. F., Gonçalves, M., Mota, P. C., Cardoso, C. G., Coelho, A. L., Sokhatska, O., Beltrão, M., Guimarães, S., Delgado, L., Soares, M., Morais, A., Saraiva, M., & Bastos, H. N. (2013). Unveiling common molecular pathways linked to ILDs with progressive fibrosing phenotype: The role of MUC5B. Trends in Biomedical Laboratory Sciences Abstract Book, 1, no1 supplement, 94.