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Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism

The MUC5B rs35705950 mutant T allele is the strongest genetic risk factor for familial and sporadic IPF. We sought to determine whether MUC5B genotype influences radiological patterns of IPF at diagnosis, as well as their change over time, in patients on antifibrotic therapy. Among eighty-eight IPF...

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Autores principales: Cocconcelli, Elisabetta, Bernardinello, Nicol, Giraudo, Chiara, Castelli, Gioele, Greco, Clorinda, Polverosi, Roberta, Saetta, Marina, Spagnolo, Paolo, Balestro, Elisabetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9784960/
https://www.ncbi.nlm.nih.gov/pubmed/36555528
http://dx.doi.org/10.3390/ijms232415890
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author Cocconcelli, Elisabetta
Bernardinello, Nicol
Giraudo, Chiara
Castelli, Gioele
Greco, Clorinda
Polverosi, Roberta
Saetta, Marina
Spagnolo, Paolo
Balestro, Elisabetta
author_facet Cocconcelli, Elisabetta
Bernardinello, Nicol
Giraudo, Chiara
Castelli, Gioele
Greco, Clorinda
Polverosi, Roberta
Saetta, Marina
Spagnolo, Paolo
Balestro, Elisabetta
author_sort Cocconcelli, Elisabetta
collection PubMed
description The MUC5B rs35705950 mutant T allele is the strongest genetic risk factor for familial and sporadic IPF. We sought to determine whether MUC5B genotype influences radiological patterns of IPF at diagnosis, as well as their change over time, in patients on antifibrotic therapy. Among eighty-eight IPF patients, previously genotyped for MUC5B rs35705950, we considered seventy-eight patients who were evaluated for radiological quantification of the following features both at treatment initiation (HRCT1) and after 1 year (HRCT2): ground glass opacities (AS), reticulations (IS) and honeycombing (HC). Of the evaluated patients, 69% carried at least one copy of the T allele (TT/TG). Carriers of the T allele displayed similar FVC loss in the first year of treatment as GG carriers, but overall survival at the end of follow-up was longer in the TT/TG group, compared to the GG group. In the GG group, both the AS and HC increased significantly, whereas in the TT/TG group only HC increased over the first year of treatment. MUC5B rs35705950 GG carriers are associated with increased ground glass and honeycombing extent over time and worse survival than T allele carriers. Longitudinal HRCT may help define the prognostic role of the MUC5B rs35705950 genotype.
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spelling pubmed-97849602022-12-24 Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism Cocconcelli, Elisabetta Bernardinello, Nicol Giraudo, Chiara Castelli, Gioele Greco, Clorinda Polverosi, Roberta Saetta, Marina Spagnolo, Paolo Balestro, Elisabetta Int J Mol Sci Article The MUC5B rs35705950 mutant T allele is the strongest genetic risk factor for familial and sporadic IPF. We sought to determine whether MUC5B genotype influences radiological patterns of IPF at diagnosis, as well as their change over time, in patients on antifibrotic therapy. Among eighty-eight IPF patients, previously genotyped for MUC5B rs35705950, we considered seventy-eight patients who were evaluated for radiological quantification of the following features both at treatment initiation (HRCT1) and after 1 year (HRCT2): ground glass opacities (AS), reticulations (IS) and honeycombing (HC). Of the evaluated patients, 69% carried at least one copy of the T allele (TT/TG). Carriers of the T allele displayed similar FVC loss in the first year of treatment as GG carriers, but overall survival at the end of follow-up was longer in the TT/TG group, compared to the GG group. In the GG group, both the AS and HC increased significantly, whereas in the TT/TG group only HC increased over the first year of treatment. MUC5B rs35705950 GG carriers are associated with increased ground glass and honeycombing extent over time and worse survival than T allele carriers. Longitudinal HRCT may help define the prognostic role of the MUC5B rs35705950 genotype. MDPI 2022-12-14 /pmc/articles/PMC9784960/ /pubmed/36555528 http://dx.doi.org/10.3390/ijms232415890 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Cocconcelli, Elisabetta
Bernardinello, Nicol
Giraudo, Chiara
Castelli, Gioele
Greco, Clorinda
Polverosi, Roberta
Saetta, Marina
Spagnolo, Paolo
Balestro, Elisabetta
Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism
title Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism
title_full Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism
title_fullStr Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism
title_full_unstemmed Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism
title_short Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism
title_sort radiological assessment in idiopathic pulmonary fibrosis (ipf) patients according to muc5b polymorphism
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9784960/
https://www.ncbi.nlm.nih.gov/pubmed/36555528
http://dx.doi.org/10.3390/ijms232415890
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