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Juge, Pierre-Antoine; Borie, Raphaël; Kannengiesser, Caroline; Gazal, Steven; Revy, Patrick; Wemeau-Stervinou, Lidwine; Debray, Marie-Pierre; Ottaviani, Sébastien; Marchand-Adam, Sylvain; Nathan, Nadia; Thabut, Gabriel; Richez, Christophe; Nunes, Hilario; Callebaut, Isabelle; Justet, Aurélien; Leulliot, Nicolas; Bonnefond, Amélie; Salgado, David; Richette, Pascal; Desvignes, Jean-Pierre; Lioté, Huguette; Froguel, Philippe; Allanore, Yannick; Sand, Olivier; [...]

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

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  • Media type: E-Article
  • Title: Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
  • Contributor: Juge, Pierre-Antoine; Borie, Raphaël; Kannengiesser, Caroline; Gazal, Steven; Revy, Patrick; Wemeau-Stervinou, Lidwine; Debray, Marie-Pierre; Ottaviani, Sébastien; Marchand-Adam, Sylvain; Nathan, Nadia; Thabut, Gabriel; Richez, Christophe; Nunes, Hilario; Callebaut, Isabelle; Justet, Aurélien; Leulliot, Nicolas; Bonnefond, Amélie; Salgado, David; Richette, Pascal; Desvignes, Jean-Pierre; Lioté, Huguette; Froguel, Philippe; Allanore, Yannick; Sand, Olivier; [...]
  • imprint: European Respiratory Society (ERS), 2017
  • Published in: European Respiratory Journal
  • Language: English
  • DOI: 10.1183/13993003.02314-2016
  • ISSN: 0903-1936; 1399-3003
  • Origination:
  • Footnote:
  • Description: <jats:p>Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF) and RA-ILD frequently share the usual pattern of interstitial pneumonia and common environmental risk factors, we hypothesised that the two diseases might share additional risk factors, including FPF-linked genes. Our aim was to identify coding mutations of FPF-risk genes associated with RA-ILD.</jats:p><jats:p>We used whole exome sequencing (WES), followed by restricted analysis of a discrete number of FPF-linked genes and performed a burden test to assess the excess number of mutations in RA-ILD patients compared to controls.</jats:p><jats:p>Among the 101 RA-ILD patients included, 12 (11.9%) had 13 WES-identified heterozygous mutations in the <jats:italic>TERT</jats:italic>, <jats:italic>RTEL1</jats:italic>, <jats:italic>PARN</jats:italic> or <jats:italic>SFTPC</jats:italic> coding regions<jats:italic>.</jats:italic> The burden test, based on 81 RA-ILD patients and 1010 controls of European ancestry, revealed an excess of <jats:italic>TERT</jats:italic>, <jats:italic>RTEL1</jats:italic>, <jats:italic>PARN</jats:italic> or <jats:italic>SFTPC</jats:italic> mutations in RA-ILD patients (OR 3.17, 95% CI 1.53–6.12; p=9.45×10<jats:sup>−4</jats:sup>). Telomeres were shorter in RA-ILD patients with a <jats:italic>TERT</jats:italic>, <jats:italic>RTEL1</jats:italic> or <jats:italic>PARN</jats:italic> mutation than in controls (p=2.87×10<jats:sup>−2</jats:sup>).</jats:p><jats:p>Our results support the contribution of FPF-linked genes to RA-ILD susceptibility.</jats:p>
  • Access State: Open Access