Autor(es):
Santos, Rita F. ; Gonçalves, Melany ; Mota, Patrícia Caetano ; Cardoso, Catarina Gouveia ; Coelho, Andreia L. ; Sokhatska, Oksana ; Beltrão, Marília ; Guimarães, Susana ; Delgado, Luís ; Soares, Miguel ; Morais, António ; Saraiva, Margarida ; Bastos, Hélder Novais
Data: 2023
Identificador Persistente: http://hdl.handle.net/10400.22/25379
Origem: Repositório Científico do Instituto Politécnico do Porto
Assunto(s): Interstitial lung disease; Hypersensitivity pneumonitis; MUC5B; Single nucleotide polymorphism; Bronchoalveolar lavage
Descrição
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.
