The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.
A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD). We genotyped the MUC5B promoter in the first 142 patients of the French national prospective cohort of IPF, in 98...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23940607/pdf/?tool=EBI |
| _version_ | 1818405493323857920 |
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| author | Raphael Borie Bruno Crestani Philippe Dieude Hilario Nunes Yannick Allanore Caroline Kannengiesser Paolo Airo Marco Matucci-Cerinic Benoit Wallaert Dominique Israel-Biet Jacques Cadranel Vincent Cottin Steven Gazal Anna L Peljto John Varga David A Schwartz Dominique Valeyre Bernard Grandchamp |
| author_facet | Raphael Borie Bruno Crestani Philippe Dieude Hilario Nunes Yannick Allanore Caroline Kannengiesser Paolo Airo Marco Matucci-Cerinic Benoit Wallaert Dominique Israel-Biet Jacques Cadranel Vincent Cottin Steven Gazal Anna L Peljto John Varga David A Schwartz Dominique Valeyre Bernard Grandchamp |
| author_sort | Raphael Borie |
| collection | DOAJ |
| description | A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD). We genotyped the MUC5B promoter in the first 142 patients of the French national prospective cohort of IPF, in 981 French patients with SSc (346 ILD), 598 Italian patients with SSc (207 ILD), 1383 French controls and 494 Italian controls. A meta-analysis was performed including all American data available. The T risk allele was present in 41.9% of the IPF patients, 10.8% of the controls (P = 2 × 10(-44)), OR 6.3 [4.6-8.7] for heterozygous patients and OR 21.7 [10.4-45.3] for homozygous patients. Prevalence of the T allele was not modified according to age, gender, smoking in IPF patients. However, none of the black patients with IPF presented the T allele. The prevalence of the T risk allele was similar between French (10%) and Italian (12%) cohorts of SSc whatever the presence of an ILD (11.1% and 13.5%, respectively). Meta-analysis confirmed the similarity between French, Italian and American cohorts of IPF or SSc-ILD. This study confirms 1) an association between the T allele risk and IPF, 2) an absence of association with SSc-ILD, suggesting different pathophysiology. |
| first_indexed | 2024-12-14T08:56:55Z |
| format | Article |
| id | doaj.art-e4f3f0a63d2a4ce1aad9e5e92605ab27 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-14T08:56:55Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-e4f3f0a63d2a4ce1aad9e5e92605ab272022-12-21T23:08:54ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0188e7062110.1371/journal.pone.0070621The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.Raphael BorieBruno CrestaniPhilippe DieudeHilario NunesYannick AllanoreCaroline KannengiesserPaolo AiroMarco Matucci-CerinicBenoit WallaertDominique Israel-BietJacques CadranelVincent CottinSteven GazalAnna L PeljtoJohn VargaDavid A SchwartzDominique ValeyreBernard GrandchampA polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD). We genotyped the MUC5B promoter in the first 142 patients of the French national prospective cohort of IPF, in 981 French patients with SSc (346 ILD), 598 Italian patients with SSc (207 ILD), 1383 French controls and 494 Italian controls. A meta-analysis was performed including all American data available. The T risk allele was present in 41.9% of the IPF patients, 10.8% of the controls (P = 2 × 10(-44)), OR 6.3 [4.6-8.7] for heterozygous patients and OR 21.7 [10.4-45.3] for homozygous patients. Prevalence of the T allele was not modified according to age, gender, smoking in IPF patients. However, none of the black patients with IPF presented the T allele. The prevalence of the T risk allele was similar between French (10%) and Italian (12%) cohorts of SSc whatever the presence of an ILD (11.1% and 13.5%, respectively). Meta-analysis confirmed the similarity between French, Italian and American cohorts of IPF or SSc-ILD. This study confirms 1) an association between the T allele risk and IPF, 2) an absence of association with SSc-ILD, suggesting different pathophysiology.https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23940607/pdf/?tool=EBI |
| spellingShingle | Raphael Borie Bruno Crestani Philippe Dieude Hilario Nunes Yannick Allanore Caroline Kannengiesser Paolo Airo Marco Matucci-Cerinic Benoit Wallaert Dominique Israel-Biet Jacques Cadranel Vincent Cottin Steven Gazal Anna L Peljto John Varga David A Schwartz Dominique Valeyre Bernard Grandchamp The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. PLoS ONE |
| title | The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. |
| title_full | The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. |
| title_fullStr | The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. |
| title_full_unstemmed | The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. |
| title_short | The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. |
| title_sort | muc5b variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the european caucasian population |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23940607/pdf/?tool=EBI |
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