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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>\n                  <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>\n                  <jats:p>\n                    Among the 101 RA-ILD patients included, 12 (11.9%) had 13 WES-identified heterozygous mutations in the\n                    <jats:italic>TERT<\/jats:italic>\n                    ,\n                    <jats:italic>RTEL1<\/jats:italic>\n                    ,\n                    <jats:italic>PARN<\/jats:italic>\n                    or\n                    <jats:italic>SFTPC<\/jats:italic>\n                    coding regions\n                    <jats:italic>.<\/jats:italic>\n                    The burden test, based on 81 RA-ILD patients and 1010 controls of European ancestry, revealed an excess of\n                    <jats:italic>TERT<\/jats:italic>\n                    ,\n                    <jats:italic>RTEL1<\/jats:italic>\n                    ,\n                    <jats:italic>PARN<\/jats:italic>\n                    or\n                    <jats:italic>SFTPC<\/jats:italic>\n                    mutations in RA-ILD patients (OR 3.17, 95% CI 1.53\u20136.12; p=9.45\u00d710\n                    <jats:sup>\u22124<\/jats:sup>\n                    ). Telomeres were shorter in RA-ILD patients with a\n                    <jats:italic>TERT<\/jats:italic>\n                    ,\n                    <jats:italic>RTEL1<\/jats:italic>\n                    or\n                    <jats:italic>PARN<\/jats:italic>\n                    mutation than in controls (p=2.87\u00d710\n                    <jats:sup>\u22122<\/jats:sup>\n                    ).\n                  <\/jats:p>\n                  <jats:p>Our results support the contribution of FPF-linked genes to RA-ILD susceptibility.<\/jats:p>","DOI":"10.1183\/13993003.02314-2016","type":"journal-article","created":{"date-parts":[[2017,5,11]],"date-time":"2017-05-11T20:10:21Z","timestamp":1494533421000},"page":"1602314","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":212,"title":["Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary 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