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Abstract Number: 1559

Shared Genetic Predisposition in Rheumatoid Arthritis–Interstitial Lung Disease and Idiopathic Pulmonary Fibrosis: A Genetic Association Study

Pierre-Antoine Juge1, Raphaël Borie2, Caroline Kannengiesser3, Steven Gazal3, Patrick Revy4, Lidwine Wemeau-Stervinou5, Marie-Pierre Debray6, Sébastien Ottaviani7, Sylvain Adam-Marchand8, Nadia Nathan9, Gabriel Thabut10, Christophe Richez11, Hilario Nunes12, Isabelle Callebaut13, Aurélien Justet2, Nicolas Leulliot14, Amélie Bonnefond15, David Salgado16, Pascal Richette17, Jean-Pierre Desvignes16, Huguette Lioté18, Philippe Froguel15, Yannick Allanore19, Olivier Sand15, Claire Dromer20, René-Marc Flipo21, Annick Clément9, Christophe Béroud22, Jean Sibilia23, Baptiste Coustet1,24, Vincent Cottin25, Marie-Christophe Boissier26, Benoit Wallaert27, Thierry Schaeverbeke28, Florence Dasto le Moal29, Aline Frazier17, Christelle Ménard30, Martin Soubrier31, Nathalie Saidenberg29, Dominique Valeyre32, Serge Amselem9, Catherine Boileau3, Bruno Crestani2 and Philippe Dieudé1, 1Rhumatologie, Hôpital Bichat - Claude Bernard, Paris, France, 2Pneumologie A, Hôpital Bichat - Claude Bernard, Paris, France, 3Génétique, Hôpital Bichat - Claude Bernard, Paris, France, 4Laboratory of Genome Dynamics in the Immune System, Institut Imagine, Paris, France, 5Pneumologie, CHRU de Lille, Lille, France, 6Université Paris-Diderot, Paris, France, 7Rheumatologie, Hôpital Bichat - Claude Bernard, Paris, France, 8Pneumology, Centre Hospitalier Universitaire de Tours, Tours, France, 9Pneumologie pédiatrique, Hôpital Trousseau, Paris, France, 10Pneumologie B, Hôpital Bichat - Claude Bernard, Paris, France, 11Rhumatologie, Department of Rheumatology, Bordeaux University Hospital, Bordeaux, France, 12Pneumologie B, Hôpital Avicenne, Paris, France, 13CNRS UMR_7590, Paris, France, 14Laboratoire de cristallographie et RMN biologiques, UMR CNRS 8015, Paris, France, 15CNRS UMR_8199, Lille, France, 16UMR_S 910, Marseille, France, 17Rhumatologie, Hôpital Lariboisière, Paris, France, 18Pneumologie A, Hôpital Tenon, Paris, France, 19Rhumatologie A, Hôpital Cochin, Paris, France, 20Imagerie Thoracique et Cardiovasculaire, CHU Bordeaux, Bordeaux, France, 21Rhumatologie, CHU Lille, Lille, France, 22INSERM UMR_S 910, Marseille, France, 23Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France, 24Rheumatology, Université Paris Descartes, Hopital Cochin, Paris, France, 25Louis Pradel Hospital, Claude Bernard University Lyon 1, Lyon, France, 26Li2P, University of Paris 13, Sorbonne Paris Cité, Bobigny, France, 27Pneumology, CHRU, Lille CEDEX, France, 28Rheumatology, CHU Bordeaux, Bordeaux, France, 29Rhumatologie, Hôpital Avicenne, Paris, France, 30Pneumologie Pédiatrique, Hôpital Trousseau, Paris, France, 31Rheumatology, Department of Rheumatology, CHU Gabriel Montpied, Clermont-Ferrand, France, 32Department of Pneumology, Avicenne Hospital (AP-HP), Bobigny, France

Meeting: 2016 ACR/ARHP Annual Meeting

Date of first publication: September 28, 2016

Keywords: genetics, interstitial lung disease, Lung and rheumatoid arthritis (RA)

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Session Information

Date: Monday, November 14, 2016

Session Title: Rheumatoid Arthritis – Human Etiology and Pathogenesis - Poster II

Session Type: ACR Poster Session B

Session Time: 9:00AM-11:00AM

Background/Purpose: Interstitial lung disease (ILD) is one of the leading causes of mortality for rheumatoid arthritis (RA) patients. Despite its high prevalence and mortality, little is known about the pathogenesis of RA–associated ILD (RA-ILD). Given that idiopathic pulmonary fibrosis (IPF) and RA–ILD share the usual interstitial pneumonia pattern and common environmental risk factors such as tobacco smoking, we hypothesized that the two diseases may share additional risk factors including familial pulmonary fibrosis (FPF) susceptibility genes. 

Methods: We used whole-exome sequencing (WES) followed by restricted analysis of a discrete number of FPF-linked genes to compare mutations among consecutive RA–ILD patients collected by a French network of pulmonologists and rheumatologists. A burden test was used to assess the excess number of mutations in RA–ILD patients.

Results: Among the 101 RA–ILD patients included, 12 (11.9%) had 13 WES-identified heterozygous mutations in the TERT, RTEL1, PARN or SFTPC coding regions. The burden test, based on 81 RA–ILD patients and 1010 controls of European ancestry, revealed an excess of TERT, RTEL1, PARN or SFTPC mutations for RA–ILD patients compared to controls (p=9.45x10–4, odds ratio [OR] 3.17 95% CI 1.53–6.12). Telomeres were shorter for RA-ILD patients with a TERT, RTEL1 or PARN mutation than controls (p=2.87×10-2).

Conclusion: Our results support the contribution of FPF-linked genes to RA–ILD susceptibility, linking RA–ILD and IPF pathogeneses. Recent therapeutic advances in IPF may open new avenues for treatment of ILD, the most severe RA manifestation for which effective drugs are lacking.


Disclosure: P. A. Juge, None; R. Borie, None; C. Kannengiesser, None; S. Gazal, None; P. Revy, None; L. Wemeau-Stervinou, None; M. P. Debray, None; S. Ottaviani, None; S. Adam-Marchand, None; N. Nathan, None; G. Thabut, None; C. Richez, None; H. Nunes, None; I. Callebaut, None; A. Justet, None; N. Leulliot, None; A. Bonnefond, None; D. Salgado, None; P. Richette, None; J. P. Desvignes, None; H. Lioté, None; P. Froguel, None; Y. Allanore, None; O. Sand, None; C. Dromer, None; R. M. Flipo, None; A. Clément, None; C. Béroud, None; J. Sibilia, None; B. Coustet, None; V. Cottin, None; M. C. Boissier, None; B. Wallaert, None; T. Schaeverbeke, None; F. Dasto le Moal, None; A. Frazier, None; C. Ménard, None; M. Soubrier, None; N. Saidenberg, None; D. Valeyre, None; S. Amselem, None; C. Boileau, None; B. Crestani, None; P. Dieudé, None.

To cite this abstract in AMA style:

Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Adam-Marchand S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dasto le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S, Boileau C, Crestani B, Dieudé P. Shared Genetic Predisposition in Rheumatoid Arthritis–Interstitial Lung Disease and Idiopathic Pulmonary Fibrosis: A Genetic Association Study [abstract]. Arthritis Rheumatol. 2016; 68 (suppl 10). https://acrabstracts.org/abstract/shared-genetic-predisposition-in-rheumatoid-arthritis-interstitial-lung-disease-and-idiopathic-pulmonary-fibrosis-a-genetic-association-study/. Accessed February 25, 2021.
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