Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism
The <i>MUC5B</i> rs35705950 mutant T allele is the strongest genetic risk factor for familial and sporadic IPF. We sought to determine whether <i>MUC5B</i> genotype influences radiological patterns of IPF at diagnosis, as well as their change over time, in patients on antifib...
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MDPI AG
2022-12-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/24/15890 |
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| author | Elisabetta Cocconcelli Nicol Bernardinello Chiara Giraudo Gioele Castelli Clorinda Greco Roberta Polverosi Marina Saetta Paolo Spagnolo Elisabetta Balestro |
| author_facet | Elisabetta Cocconcelli Nicol Bernardinello Chiara Giraudo Gioele Castelli Clorinda Greco Roberta Polverosi Marina Saetta Paolo Spagnolo Elisabetta Balestro |
| author_sort | Elisabetta Cocconcelli |
| collection | DOAJ |
| description | The <i>MUC5B</i> rs35705950 mutant T allele is the strongest genetic risk factor for familial and sporadic IPF. We sought to determine whether <i>MUC5B</i> 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. <i>MUC5B</i> 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 <i>MUC5B</i> rs35705950 genotype. |
| first_indexed | 2024-03-09T16:19:06Z |
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| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T16:19:06Z |
| publishDate | 2022-12-01 |
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| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-bfbf922a84e24cb2b0fae16078f25ad02023-11-24T15:29:46ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-12-0123241589010.3390/ijms232415890Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B PolymorphismElisabetta Cocconcelli0Nicol Bernardinello1Chiara Giraudo2Gioele Castelli3Clorinda Greco4Roberta Polverosi5Marina Saetta6Paolo Spagnolo7Elisabetta Balestro8Respiratory Disease Unit, Department of Cardiac Thoracic Vascular Sciences, Public Health University of Padova, 35128 Padova, ItalyRespiratory Disease Unit, Department of Cardiac Thoracic Vascular Sciences, Public Health University of Padova, 35128 Padova, ItalyDepartment of Medicine-DIMED, Padova University Hospital, 35128 Padova, ItalyRespiratory Disease Unit, Department of Cardiac Thoracic Vascular Sciences, Public Health University of Padova, 35128 Padova, ItalySan Giovanni di Dio Hospital, 88900 Crotone, ItalyAntoniano Diagnostic Institute, 35123 Padova, ItalyRespiratory Disease Unit, Department of Cardiac Thoracic Vascular Sciences, Public Health University of Padova, 35128 Padova, ItalyRespiratory Disease Unit, Department of Cardiac Thoracic Vascular Sciences, Public Health University of Padova, 35128 Padova, ItalyRespiratory Disease Unit, Department of Cardiac Thoracic Vascular Sciences, Public Health University of Padova, 35128 Padova, ItalyThe <i>MUC5B</i> rs35705950 mutant T allele is the strongest genetic risk factor for familial and sporadic IPF. We sought to determine whether <i>MUC5B</i> 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. <i>MUC5B</i> 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 <i>MUC5B</i> rs35705950 genotype.https://www.mdpi.com/1422-0067/23/24/15890MUC5B genotypeHRCT scoresIPF survival |
| spellingShingle | Elisabetta Cocconcelli Nicol Bernardinello Chiara Giraudo Gioele Castelli Clorinda Greco Roberta Polverosi Marina Saetta Paolo Spagnolo Elisabetta Balestro Radiological Assessment in Idiopathic Pulmonary Fibrosis (IPF) Patients According to MUC5B Polymorphism International Journal of Molecular Sciences MUC5B genotype HRCT scores IPF survival |
| 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 | MUC5B genotype HRCT scores IPF survival |
| url | https://www.mdpi.com/1422-0067/23/24/15890 |
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