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...
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2013
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oai:doaj.org-article:e4f3f0a63d2a4ce1aad9e5e92605ab272021-11-18T09:01:19ZThe MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.1932-620310.1371/journal.pone.0070621https://doaj.org/article/e4f3f0a63d2a4ce1aad9e5e92605ab272013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23940607/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203A 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.Raphael BorieBruno CrestaniPhilippe DieudeHilario NunesYannick AllanoreCaroline KannengiesserPaolo AiroMarco Matucci-CerinicBenoit WallaertDominique Israel-BietJacques CadranelVincent CottinSteven GazalAnna L PeljtoJohn VargaDavid A SchwartzDominique ValeyreBernard GrandchampPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 8, p e70621 (2013) |
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DOAJ |
| collection |
DOAJ |
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EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q 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. |
| 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. |
| format |
article |
| 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 |
| title |
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_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_sort |
muc5b variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the european caucasian population. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/e4f3f0a63d2a4ce1aad9e5e92605ab27 |
| work_keys_str_mv |
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muc5bvariantisassociatedwithidiopathicpulmonaryfibrosisbutnotwithsystemicsclerosisinterstitiallungdiseaseintheeuropeancaucasianpopulation AT annalpeljto muc5bvariantisassociatedwithidiopathicpulmonaryfibrosisbutnotwithsystemicsclerosisinterstitiallungdiseaseintheeuropeancaucasianpopulation AT johnvarga muc5bvariantisassociatedwithidiopathicpulmonaryfibrosisbutnotwithsystemicsclerosisinterstitiallungdiseaseintheeuropeancaucasianpopulation AT davidaschwartz muc5bvariantisassociatedwithidiopathicpulmonaryfibrosisbutnotwithsystemicsclerosisinterstitiallungdiseaseintheeuropeancaucasianpopulation AT dominiquevaleyre muc5bvariantisassociatedwithidiopathicpulmonaryfibrosisbutnotwithsystemicsclerosisinterstitiallungdiseaseintheeuropeancaucasianpopulation AT bernardgrandchamp muc5bvariantisassociatedwithidiopathicpulmonaryfibrosisbutnotwithsystemicsclerosisinterstitiallungdiseaseintheeuropeancaucasianpopulation |
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