{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T07:11:13Z","timestamp":1793949073888,"version":"4.8.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"vor","delay-in-days":997,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01-HL149836"],"award-info":[{"award-number":["R01-HL149836"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01-HL158668"],"award-info":[{"award-number":["R01-HL158668"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["P01-HL0928701"],"award-info":[{"award-number":["P01-HL0928701"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UH2\/3-HL123442"],"award-info":[{"award-number":["UH2\/3-HL123442"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UG3-HL151865"],"award-info":[{"award-number":["UG3-HL151865"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["X01-HL134585"],"award-info":[{"award-number":["X01-HL134585"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000738","name":"U.S. Department of Veterans Affairs","doi-asserted-by":"publisher","award":["I01BX005295"],"award-info":[{"award-number":["I01BX005295"]}],"id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W81XWH-17-1-0597"],"award-info":[{"award-number":["W81XWH-17-1-0597"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"crossref","award":["R01-HL149836"],"award-info":[{"award-number":["R01-HL149836"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"crossref","award":["R01-HL158668"],"award-info":[{"award-number":["R01-HL158668"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"crossref","award":["P01-HL0928701"],"award-info":[{"award-number":["P01-HL0928701"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"crossref","award":["UH2\/3-HL123442"],"award-info":[{"award-number":["UH2\/3-HL123442"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"crossref","award":["UG3-HL151865"],"award-info":[{"award-number":["UG3-HL151865"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"crossref","award":["X01-HL134585"],"award-info":[{"award-number":["X01-HL134585"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000738","name":"U.S. Department of Veterans Affairs","doi-asserted-by":"publisher","award":["I01BX005295"],"award-info":[{"award-number":["I01BX005295"]}],"id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000738","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W81XWH-17-1-0597"],"award-info":[{"award-number":["W81XWH-17-1-0597"]}],"id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.atsjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Rationale<\/jats:title>\n                    <jats:p>Idiopathic pulmonary fibrosis (IPF) is a rare, irreversible, and progressive disease of the lungs. Common genetic variants, in addition to nongenetic factors, have been consistently associated with IPF. Rare variants identified by candidate gene, family-based, and exome studies have also been reported to associate with IPF. However, the extent to which rare variants, genome-wide, may contribute to the risk of IPF remains unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We used whole-genome sequencing to investigate the role of rare variants, genome-wide, on IPF risk.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>As part of the Trans-Omics for Precision Medicine Program, we sequenced 2,180 cases of IPF. Association testing focused on the aggregated effect of rare variants (minor allele frequency \u22640.01) within genes or regions. We also identified individual rare variants that are influential within genes and estimated the heritability of IPF on the basis of rare and common variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Measurements and Main Results<\/jats:title>\n                    <jats:p>Rare variants in both TERT and RTEL1 were significantly associated with IPF. A single rare variant in each of the TERT and RTEL1 genes was found to consistently influence the aggregated test statistics. There was no significant evidence of association with other previously reported rare variants. The SNP heritability of IPF was estimated to be 32% (SE\u2009=\u20093%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Rare variants within the TERT and RTEL1 genes and well-established common variants have the largest contribution to IPF risk overall. Efforts in risk profiling or the development of therapies for IPF that focus on TERT, RTEL1, common variants, and environmental risk factors are likely to have the largest impact on this complex disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1164\/rccm.202207-1331oc","type":"journal-article","created":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T11:45:45Z","timestamp":1672919145000},"page":"1194-1202","update-policy":"https:\/\/doi.org\/10.1164\/crossmarkpolicies","source":"Crossref","is-referenced-by-count":81,"title":["Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants"],"prefix":"10.1093","volume":"207","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8389-0736","authenticated-orcid":false,"given":"Anna L.","family":"Peljto","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel Z.","family":"Blumhagen","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"},{"name":"National Jewish Health, Denver, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avram D.","family":"Walts","sequence":"additional","affiliation":[{"name":"National Jewish Health, Denver, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Cardwell","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Powers","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamera J.","family":"Corte","sequence":"additional","affiliation":[{"name":"Royal Prince Alfred Hospital, University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne L.","family":"Dickinson","sequence":"additional","affiliation":[{"name":"Menzies Institute of Medical Research, University of Tasmania, Hobart, Tasmania, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Glaspole","sequence":"additional","affiliation":[{"name":"Allergy, Asthma and Clinical Immunology Clinic, Alfred Health, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuben P.","family":"Moodley","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, University of Western Australia, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina Koziar","family":"Vasakova","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, University Thomayer Hospital, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Bendstrup","sequence":"additional","affiliation":[{"name":"Center for Rare Lung Diseases, Department of Respiratory Diseases and Allergy, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4128-4014","authenticated-orcid":false,"given":"Jesper R.","family":"Davidsen","sequence":"additional","affiliation":[{"name":"South Danish Center for Interstitial Lung Diseases, Department of Respiratory Medicine, Odense University Hospital, Odense, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9906-0024","authenticated-orcid":false,"given":"Raphael","family":"Borie","sequence":"additional","affiliation":[{"name":"Service de Pneumologie A and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Crestani","sequence":"additional","affiliation":[{"name":"Service de Pneumologie A and"},{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM, Physiopathologie et \u00c9pid\u00e9miologie des Maladies Respiratoires, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Dieude","sequence":"additional","affiliation":[{"name":"Service de Rhumatologie, Hopital Bichat, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7579-9767","authenticated-orcid":false,"given":"Francesco","family":"Bonella","sequence":"additional","affiliation":[{"name":"Center for Interstitial and Rare Lung Diseases, Ruhrlandklinik University Hospital, University of Duisburg-Essen, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Costabel","sequence":"additional","affiliation":[{"name":"Center for Interstitial and Rare Lung Diseases, Ruhrlandklinik University Hospital, University of Duisburg-Essen, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunnar","family":"Gudmundsson","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Iceland, Reykjavik, Iceland"},{"name":"Department of Respiratory Medicine and Sleep, Landspitali University Hospital, Reykjavik, Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seamas C.","family":"Donnelly","sequence":"additional","affiliation":[{"name":"Trinity College Dublin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jim","family":"Egan","sequence":"additional","affiliation":[{"name":"National Lung Transplantation Centre, Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T.","family":"Henry","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Cork University Hospital, Cork, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Keane","sequence":"additional","affiliation":[{"name":"St. Vincent\u2019s University Hospital, University College Dublin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus P.","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Cork University Hospital, Cork, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cormac","family":"McCarthy","sequence":"additional","affiliation":[{"name":"St. Vincent\u2019s University Hospital, University College Dublin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aoife N.","family":"McElroy","sequence":"additional","affiliation":[{"name":"Trinity College Dublin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua A.","family":"Olaniyi","sequence":"additional","affiliation":[{"name":"Trinity College Dublin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine M. A.","family":"O\u2019Reilly","sequence":"additional","affiliation":[{"name":"Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Richeldi","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy"},{"name":"Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7868-8410","authenticated-orcid":false,"given":"Paolo M.","family":"Leone","sequence":"additional","affiliation":[{"name":"Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy"},{"name":"Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venerino","family":"Poletti","sequence":"additional","affiliation":[{"name":"Department of Diseases of the Thorax, G. B. Morgagni Hospital, Forl\u00ec, Italy"},{"name":"Department of Medical and Surgical Sciences, DIMES University of Bologna, Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5393-0071","authenticated-orcid":false,"given":"Francesco","family":"Puppo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Genoa, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4781-6539","authenticated-orcid":false,"given":"Sara","family":"Tomassetti","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Interventional Pulmonology Unit, Careggi University Hospital, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Luzzi","sequence":"additional","affiliation":[{"name":"Interventional Pulmonology Unit, Careggi University Hospital, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurdan","family":"Kokturk","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Gazi University, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nesrin","family":"Mogulkoc","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Ege University Hospital, Izmir, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine A.","family":"Fiddler","sequence":"additional","affiliation":[{"name":"Royal Papworth Hospital NHS Foundation Trust, Cambridge, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Hirani","sequence":"additional","affiliation":[{"name":"University of Edinburgh, Edinburgh, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Gisli","family":"Jenkins","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Imperial College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7192-9149","authenticated-orcid":false,"given":"Toby M.","family":"Maher","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Imperial College London, London, United Kingdom"},{"name":"Keck Medicine of USC, University of Southern California, Los Angeles, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip L.","family":"Molyneaux","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Imperial College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Parfrey","sequence":"additional","affiliation":[{"name":"Royal Papworth Hospital NHS Foundation Trust, Cambridge, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Braybrooke","sequence":"additional","affiliation":[{"name":"Division of Respiratory Medicine, University of Nottingham, Nottingham, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy S.","family":"Blackwell","sequence":"additional","affiliation":[{"name":"Vanderbilt University Medical Center, Nashville, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5108-9381","authenticated-orcid":false,"given":"Peter D.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, Virginia Commonwealth University, Richmond, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven D.","family":"Nathan","sequence":"additional","affiliation":[{"name":"Inova Fairfax Hospital, Falls Church, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary K.","family":"Porteous","sequence":"additional","affiliation":[{"name":"Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin K.","family":"Brown","sequence":"additional","affiliation":[{"name":"National Jewish Health, Denver, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason D.","family":"Christie","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harold R.","family":"Collard","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Department of Medicine, University of California, San Francisco, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7170-0360","authenticated-orcid":false,"given":"Oliver","family":"Eickelberg","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena E.","family":"Foster","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Critical Care, and Sleep Medicine, School of Medicine, University of California, Davis, Sacramento, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin F.","family":"Gibson","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn","family":"Glassberg","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Critical Care and Sleep Medicine, College of Medicine, University of Arizona, Phoenix, Arizona"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6597-7830","authenticated-orcid":false,"given":"Daniel J.","family":"Kass","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8923-1344","authenticated-orcid":false,"given":"Jonathan A.","family":"Kropski","sequence":"additional","affiliation":[{"name":"Vanderbilt University Medical Center, Nashville, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Lederer","sequence":"additional","affiliation":[{"name":"Regeneron Pharmaceuticals, Inc., Tarrytown, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela L.","family":"Linderholm","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of California, Davis, Davis, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jim","family":"Loyd","sequence":"additional","affiliation":[{"name":"Vanderbilt University Medical Center, Nashville, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan K.","family":"Mathai","sequence":"additional","affiliation":[{"name":"Baylor University Medical Center, Dallas, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sydney B.","family":"Montesi","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imre","family":"Noth","sequence":"additional","affiliation":[{"name":"Department of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4957-8869","authenticated-orcid":false,"given":"Justin M.","family":"Oldham","sequence":"additional","affiliation":[{"name":"Department of Medicine and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy J.","family":"Palmisciano","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Critical Care and Sleep Medicine, Alpert Medical School, Brown University, Providence, Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina A.","family":"Reichner","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Critical Care and Sleep Medicine, MedStar Georgetown University Hospital, Washington, DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauricio","family":"Rojas","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Critical Care, and Sleep Medicine, Ohio State University, Columbus, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesse","family":"Roman","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Allergy, and Critical Care, Thomas Jefferson University, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Schluger","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry S.","family":"Shea","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Critical Care and Sleep Medicine, Alpert Medical School, Brown University, Providence, Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey J.","family":"Swigris","sequence":"additional","affiliation":[{"name":"National Jewish Health, Denver, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Wolters","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Department of Medicine, University of California, San Francisco, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingze","family":"Zhang","sequence":"additional","affiliation":[{"name":"Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia M. A.","family":"Prele","sequence":"additional","affiliation":[{"name":"Institute for Respiratory Health, University of Western Australia, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan I.","family":"Enghelmayer","sequence":"additional","affiliation":[{"name":"Brown University, Providence, Rhode Island"},{"name":"Hospital de Cl\u00ednicas, Universidad de Buenos Aires, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Otaola","sequence":"additional","affiliation":[{"name":"Instituto de Rehabilitaci\u00f3n Psicof\u00edsica de Buenos Aires, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J.","family":"Ryerson","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7278-9088","authenticated-orcid":false,"given":"Mauricio","family":"Salinas","sequence":"additional","affiliation":[{"name":"Departamento de Medicina, Universidad de Chile, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Sterclova","sequence":"additional","affiliation":[{"name":"Center for Rare Lung Diseases, Department of Respiratory Diseases and Allergy, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tewodros H.","family":"Gebremariam","sequence":"additional","affiliation":[{"name":"College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjukka","family":"Myll\u00e4rniemi","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Heart and Lung Center, Helsinki University Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto G.","family":"Carbone","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Genoa, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5569-1051","authenticated-orcid":false,"given":"Haruhiko","family":"Furusawa","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Tokyo Medical and Dental University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaki","family":"Hirose","sequence":"additional","affiliation":[{"name":"National Hospital Organization Kinki-Chuo Chest Medical Center, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3994-874X","authenticated-orcid":false,"given":"Yoshikazu","family":"Inoue","sequence":"additional","affiliation":[{"name":"National Hospital Organization Kinki-Chuo Chest Medical Center, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9073-9815","authenticated-orcid":false,"given":"Yasunari","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Tokyo Medical and Dental University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Ohta","sequence":"additional","affiliation":[{"name":"National Hospital Organization Tokyo National Hospital, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8744-6096","authenticated-orcid":false,"given":"Shin","family":"Ohta","sequence":"additional","affiliation":[{"name":"Department of Medicine, Showa University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsukasa","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Tokyo Medical and Dental University, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong Soon","family":"Kim","sequence":"additional","affiliation":[{"name":"Asan Medical Center, University of Ulsan, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Pardo","sequence":"additional","affiliation":[{"name":"Faculty of Sciences, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moises","family":"Selman","sequence":"additional","affiliation":[{"name":"Instituto Nacional de Enfermedades Respiratorias Ismael Cos\u00edo Villegas, Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro U.","family":"Aranda","sequence":"additional","affiliation":[{"name":"Cardiopulmonary Research Center, Alliance Pulmonary Group, Guaynabo, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0820-7615","authenticated-orcid":false,"given":"Moo Suk","family":"Park","sequence":"additional","affiliation":[{"name":"Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong Sun","family":"Park","sequence":"additional","affiliation":[{"name":"Seoul National University Bundang Hospital, Seoul National University, Seongnam, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin Woo","family":"Song","sequence":"additional","affiliation":[{"name":"Asan Medical Center, University of Ulsan, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Molina-Molina","sequence":"additional","affiliation":[{"name":"Respiratory Department and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7636-444X","authenticated-orcid":false,"given":"Lurdes","family":"Planas-Cerezales","sequence":"additional","affiliation":[{"name":"Interstitial Lung Disease Multidisciplinary Unit, University Hospital of Bellvitge, University of Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunilla","family":"Westergren-Thorsson","sequence":"additional","affiliation":[{"name":"Department of Experimental Medical Science, Lung Biology Unit, Lund University, Lund, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert V.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ani W.","family":"Manichaikul","sequence":"additional","affiliation":[{"name":"Center for Public Health Genomics, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John S.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen S.","family":"Rich","sequence":"additional","affiliation":[{"name":"Center for Public Health Genomics, and"},{"name":"Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth C.","family":"Oelsner","sequence":"additional","affiliation":[{"name":"Department of Medicine and Department of Epidemiology, Columbia University Medical Center, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Graham","family":"Barr","sequence":"additional","affiliation":[{"name":"Department of Medicine and Department of Epidemiology, Columbia University Medical Center, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome I.","family":"Rotter","sequence":"additional","affiliation":[{"name":"The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute at Harbor-UCLA Medical Center, Torrance, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josee","family":"Dupuis","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, School of Public Health, Boston University, Boston, Massachusetts"},{"name":"Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montr\u00e9al, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"O\u2019Connor","sequence":"additional","affiliation":[{"name":"Pulmonary Center, School of Medicine, Boston University, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramachandran S.","family":"Vasan","sequence":"additional","affiliation":[{"name":"Boston University and National Heart, Lung, and Blood Institute Framingham Heart Study, Boston, Massachusetts; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael H.","family":"Cho","sequence":"additional","affiliation":[{"name":"Channing Division of Network Medicine, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin K.","family":"Silverman","sequence":"additional","affiliation":[{"name":"Channing Division of Network Medicine, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marvin I.","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark P.","family":"Steele","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyce S.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana V.","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasha E.","family":"Fingerlin","sequence":"additional","affiliation":[{"name":"National Jewish Health, Denver, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6743-8443","authenticated-orcid":false,"given":"David A.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,5,1]]},"reference":[{"key":"2026012220022095100_bib1","doi-asserted-by":"crossref","first-page":"e44","DOI":"10.1164\/rccm.201807-1255ST","article-title":"Diagnosis of idiopathic pulmonary fibrosis. An official ATS\/ERS\/JRS\/ALAT clinical practice guideline","volume":"198","author":"Raghu","year":"2018","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib2","first-page":"797","article-title":"Idiopathic pulmonary fibrosis","volume":"379","author":"Lederer","year":"2018","journal-title":"N Engl J Med"},{"key":"2026012220022095100_bib3","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1750-1172-3-8","article-title":"Idiopathic pulmonary fibrosis","volume":"3","author":"Meltzer","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"2026012220022095100_bib4","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1093\/aje\/152.4.307","article-title":"Occupational and environmental risk factors for idiopathic pulmonary fibrosis: a multicenter case-control study","volume":"152","author":"Baumgartner","year":"2000","journal-title":"Am J Epidemiol"},{"key":"2026012220022095100_bib5","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1179\/oeh.2008.14.2.117","article-title":"Occupational risks for idiopathic pulmonary fibrosis mortality in the United States","volume":"14","author":"Pinheiro","year":"2008","journal-title":"Int J Occup Environ Health"},{"key":"2026012220022095100_bib6","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1165\/rcmb.2017-0046OC","article-title":"Regulation of MUC5B expression in idiopathic pulmonary fibrosis","volume":"57","author":"Helling","year":"2017","journal-title":"Am J Respir Cell Mol Biol"},{"key":"2026012220022095100_bib7","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1056\/NEJMoa1013660","article-title":"A common MUC5B promoter polymorphism and pulmonary fibrosis","volume":"364","author":"Seibold","year":"2011","journal-title":"N Engl J Med"},{"key":"2026012220022095100_bib8","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/ng.2609","article-title":"Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis","volume":"45","author":"Fingerlin","year":"2013","journal-title":"Nat Genet"},{"key":"2026012220022095100_bib9","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1136\/jmg.2008.057356","article-title":"A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis","volume":"45","author":"Mushiroda","year":"2008","journal-title":"J Med Genet"},{"key":"2026012220022095100_bib10","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S2213-2600(13)70045-6","article-title":"Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study","volume":"1","author":"Noth","year":"2013","journal-title":"Lancet Respir Med"},{"key":"2026012220022095100_bib11","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s12863-016-0377-2","article-title":"Genome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumonia","volume":"17","author":"Fingerlin","year":"2016","journal-title":"BMC Genet"},{"key":"2026012220022095100_bib12","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/S2213-2600(17)30387-9","article-title":"Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study","volume":"5","author":"Allen","year":"2017","journal-title":"Lancet Respir Med"},{"key":"2026012220022095100_bib13","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1164\/rccm.201810-1891OC","article-title":"Resequencing study confirms that host defense and cell senescence gene variants contribute to the risk of idiopathic pulmonary fibrosis","volume":"200","author":"Moore","year":"2019","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib14","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1164\/rccm.201905-1017OC","article-title":"Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis","volume":"201","author":"Allen","year":"2020","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib15","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1164\/rccm.202110-2439OC","article-title":"Rare and common variants in KIF15 contribute to genetic risk of idiopathic pulmonary fibrosis","volume":"206","author":"Zhang","year":"2022","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib16","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1056\/NEJM200102223440805","article-title":"A mutation in the surfactant protein C gene associated with familial interstitial lung disease","volume":"344","author":"Nogee","year":"2001","journal-title":"N Engl J Med"},{"key":"2026012220022095100_bib17","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1056\/NEJMoa066157","article-title":"Telomerase mutations in families with idiopathic pulmonary fibrosis","volume":"356","author":"Armanios","year":"2007","journal-title":"N Engl J Med"},{"key":"2026012220022095100_bib18","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1136\/thx.2004.026336","article-title":"Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF","volume":"59","author":"Lawson","year":"2004","journal-title":"Thorax"},{"key":"2026012220022095100_bib19","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1164\/rccm.200112-123OC","article-title":"Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred","volume":"165","author":"Thomas","year":"2002","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib20","doi-asserted-by":"crossref","first-page":"7552","DOI":"10.1073\/pnas.0701009104","article-title":"Adult-onset pulmonary fibrosis caused by mutations in telomerase","volume":"104","author":"Tsakiri","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"2026012220022095100_bib21","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1164\/rccm.200906-0953OC","article-title":"Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a Dutch cohort","volume":"182","author":"van Moorsel","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib22","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ajhg.2008.11.010","article-title":"Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer","volume":"84","author":"Wang","year":"2009","journal-title":"Am J Hum Genet"},{"key":"2026012220022095100_bib23","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/ng.3278","article-title":"Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening","volume":"47","author":"Stuart","year":"2015","journal-title":"Nat Genet"},{"key":"2026012220022095100_bib24","doi-asserted-by":"crossref","first-page":"e000057","DOI":"10.1136\/bmjresp-2014-000057","article-title":"Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations","volume":"1","author":"Coghlan","year":"2014","journal-title":"BMJ Open Respir Res"},{"key":"2026012220022095100_bib25","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1164\/rccm.201408-1510OC","article-title":"Rare variants in RTEL1 are associated with familial interstitial pneumonia","volume":"191","author":"Cogan","year":"2015","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib26","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1164\/rccm.201610-2088OC","article-title":"An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis","volume":"196","author":"Petrovski","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib27","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","article-title":"Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program","volume":"590","author":"Taliun","year":"2021","journal-title":"Nature"},{"key":"2026012220022095100_bib28","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.ajhg.2012.06.007","article-title":"Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies","volume":"91","author":"Lee","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2026012220022095100_bib29","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/gepi.22040","article-title":"On the association analysis of genome-sequencing data: a spatial clustering approach for partitioning the entire genome into nonoverlapping windows","volume":"41","author":"Loehlein Fier","year":"2017","journal-title":"Genet Epidemiol"},{"key":"2026012220022095100_bib30","article-title":"Identification of influential variants in significant aggregate rare variant tests","author":"Blumhagen","year":"2021","journal-title":"Hum Hered"},{"key":"2026012220022095100_bib31","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1038\/ng.3390","article-title":"Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index","volume":"47","author":"Yang","year":"2015","journal-title":"Nat Genet"},{"key":"2026012220022095100_bib32","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/s42003-021-01910-y","article-title":"Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis","volume":"4","author":"Dhindsa","year":"2021","journal-title":"Commun Biol"},{"key":"2026012220022095100_bib33","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1136\/thoraxjnl-2021-218577","article-title":"Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis","volume":"77","author":"Allen","year":"2022","journal-title":"Thorax"},{"key":"2026012220022095100_bib34","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/S2213-2600(18)30135-8","article-title":"Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study","volume":"6","author":"Dressen","year":"2018","journal-title":"Lancet Respir Med"},{"key":"2026012220022095100_bib35","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1136\/jmg.2009.066829","article-title":"New surfactant protein C gene mutations associated with diffuse lung disease","volume":"46","author":"Guillot","year":"2009","journal-title":"J Med Genet"},{"key":"2026012220022095100_bib36","doi-asserted-by":"crossref","first-page":"2002806","DOI":"10.1183\/13993003.02806-2020","article-title":"Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer","volume":"56","author":"Legendre","year":"2020","journal-title":"Eur Respir J"},{"key":"2026012220022095100_bib37","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1378\/chest.14-1947","article-title":"Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis","volume":"147","author":"Alder","year":"2015","journal-title":"Chest"},{"key":"2026012220022095100_bib38","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1465-9921-15-43","article-title":"A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant","volume":"15","author":"Campo","year":"2014","journal-title":"Respir Res"},{"key":"2026012220022095100_bib39","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1136\/thoraxjnl-2018-212430","article-title":"MUC5B variant is associated with visually and quantitatively detected preclinical pulmonary fibrosis","volume":"74","author":"Mathai","year":"2019","journal-title":"Thorax"},{"key":"2026012220022095100_bib40","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1164\/rccm.201908-1571OC","article-title":"Interstitial lung disease in relatives of patients with pulmonary fibrosis","volume":"201","author":"Hunninghake","year":"2020","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib41","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1164\/rccm.201809-1652OC","article-title":"Imaging patterns are associated with interstitial lung abnormality progression and mortality","volume":"200","author":"Putman","year":"2019","journal-title":"Am J Respir Crit Care Med"},{"key":"2026012220022095100_bib42","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1164\/rccm.202206-1075OC","article-title":"Incidence and progression of fibrotic lung disease in an at-risk cohort","volume":"207","author":"Steele","year":"2023","journal-title":"Am J Respir Crit Care Med"}],"updated-by":[{"DOI":"10.1164\/rccm.v209erratum2","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T00:00:00Z","timestamp":1707955200000}}],"container-title":["American Journal of Respiratory and Critical Care Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ajrccm\/article-pdf\/207\/9\/1194\/66437103\/ajrccm_207_9_1194.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ajrccm\/article-pdf\/207\/9\/1194\/66437103\/ajrccm_207_9_1194.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T01:02:31Z","timestamp":1769130151000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ajrccm\/article\/207\/9\/1194\/8428144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,1]]},"references-count":42,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2023,5,1]]},"published-print":{"date-parts":[[2023,5,1]]}},"URL":"https:\/\/doi.org\/10.1164\/rccm.202207-1331oc","relation":{},"ISSN":["1073-449X","1535-4970"],"issn-type":[{"value":"1073-449X","type":"print"},{"value":"1535-4970","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,5]]},"published":{"date-parts":[[2023,5,1]]},"assertion":[{"value":"2022-07-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}