The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population

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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Main Authors: Borie, Raphael, Crestani, Bruno, Dieude, Philippe, Nunes, Hilario, Allanore, Yannick, Kannengiesser, Caroline, Airo, Paolo, Matucci-Cerinic, Marco, Wallaert, Benoit, Israel-Biet, Dominique, Cadranel, Jacques, Cottin, Vincent, Gazal, Steven, Peljto, Anna L., Varga, John, Schwartz, David A., Valeyre, Dominique, Grandchamp, Bernard
Format: Online
Language:English
Published: Public Library of Science 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734256/
id pubmed-3734256
recordtype oai_dc
spelling pubmed-37342562013-08-12 The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population Borie, Raphael Crestani, Bruno Dieude, Philippe Nunes, Hilario Allanore, Yannick Kannengiesser, Caroline Airo, Paolo Matucci-Cerinic, Marco Wallaert, Benoit Israel-Biet, Dominique Cadranel, Jacques Cottin, Vincent Gazal, Steven Peljto, Anna L. Varga, John Schwartz, David A. Valeyre, Dominique Grandchamp, Bernard Research Article 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. Public Library of Science 2013-08-05 /pmc/articles/PMC3734256/ /pubmed/23940607 http://dx.doi.org/10.1371/journal.pone.0070621 Text en © 2013 Borie et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Borie, Raphael
Crestani, Bruno
Dieude, Philippe
Nunes, Hilario
Allanore, Yannick
Kannengiesser, Caroline
Airo, Paolo
Matucci-Cerinic, Marco
Wallaert, Benoit
Israel-Biet, Dominique
Cadranel, Jacques
Cottin, Vincent
Gazal, Steven
Peljto, Anna L.
Varga, John
Schwartz, David A.
Valeyre, Dominique
Grandchamp, Bernard
spellingShingle Borie, Raphael
Crestani, Bruno
Dieude, Philippe
Nunes, Hilario
Allanore, Yannick
Kannengiesser, Caroline
Airo, Paolo
Matucci-Cerinic, Marco
Wallaert, Benoit
Israel-Biet, Dominique
Cadranel, Jacques
Cottin, Vincent
Gazal, Steven
Peljto, Anna L.
Varga, John
Schwartz, David A.
Valeyre, Dominique
Grandchamp, Bernard
The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population
author_facet Borie, Raphael
Crestani, Bruno
Dieude, Philippe
Nunes, Hilario
Allanore, Yannick
Kannengiesser, Caroline
Airo, Paolo
Matucci-Cerinic, Marco
Wallaert, Benoit
Israel-Biet, Dominique
Cadranel, Jacques
Cottin, Vincent
Gazal, Steven
Peljto, Anna L.
Varga, John
Schwartz, David A.
Valeyre, Dominique
Grandchamp, Bernard
author_sort Borie, Raphael
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
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.
publisher Public Library of Science
publishDate 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734256/
_version_ 1612000827404189696

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