Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants

Author:

Peljto Anna L.1ORCID,Blumhagen Rachel Z.12,Walts Avram D.2,Cardwell Jonathan1,Powers Julia1,Corte Tamera J.3,Dickinson Joanne L.4,Glaspole Ian5,Moodley Yuben P.6,Vasakova Martina Koziar7,Bendstrup Elisabeth89,Davidsen Jesper R.10ORCID,Borie Raphael11ORCID,Crestani Bruno1112,Dieude Philippe13,Bonella Francesco14ORCID,Costabel Ulrich14,Gudmundsson Gunnar1516,Donnelly Seamas C.17,Egan Jim18,Henry Michael T.19,Keane Michael P.20,Kennedy Marcus P.19,McCarthy Cormac20,McElroy Aoife N.17,Olaniyi Joshua A.17,O’Reilly Katherine M. A.21,Richeldi Luca2223,Leone Paolo M.2223ORCID,Poletti Venerino2425,Puppo Francesco26ORCID,Tomassetti Sara27ORCID,Luzzi Valentina28,Kokturk Nurdan29,Mogulkoc Nesrin30,Fiddler Christine A.31,Hirani Nikhil32,Jenkins R. Gisli33,Maher Toby M.3334ORCID,Molyneaux Philip L.33,Parfrey Helen31,Braybrooke Rebecca35,Blackwell Timothy S.36,Jackson Peter D.37ORCID,Nathan Steven D.38,Porteous Mary K.39,Brown Kevin K.2,Christie Jason D.40,Collard Harold R.41,Eickelberg Oliver42ORCID,Foster Elena E.43,Gibson Kevin F.42,Glassberg Marilyn44,Kass Daniel J.42ORCID,Kropski Jonathan A.36ORCID,Lederer David45,Linderholm Angela L.46,Loyd Jim36,Mathai Susan K.47,Montesi Sydney B.48,Noth Imre49,Oldham Justin M.50ORCID,Palmisciano Amy J.51,Reichner Cristina A.52,Rojas Mauricio53,Roman Jesse54,Schluger Neil55,Shea Barry S.51,Swigris Jeffrey J.2,Wolters Paul J.41,Zhang Yingze42,Prele Cecilia M. A.56,Enghelmayer Juan I.5758,Otaola Maria59,Ryerson Christopher J.60,Salinas Mauricio61ORCID,Sterclova Martina8,Gebremariam Tewodros H.62,Myllärniemi Marjukka63,Carbone Roberto G.26,Furusawa Haruhiko64ORCID,Hirose Masaki65,Inoue Yoshikazu65ORCID,Miyazaki Yasunari64ORCID,Ohta Ken66,Ohta Shin67ORCID,Okamoto Tsukasa64,Kim Dong Soon68,Pardo Annie69,Selman Moises70,Aranda Alvaro U.71,Park Moo Suk72ORCID,Park Jong Sun73,Song Jin Woo68,Molina-Molina Maria74,Planas-Cerezales Lurdes75ORCID,Westergren-Thorsson Gunilla76,Smith Albert V.77,Manichaikul Ani W.78,Kim John S.49,Rich Stephen S.7879,Oelsner Elizabeth C.80,Barr R. Graham80,Rotter Jerome I.81,Dupuis Josee8283,O’Connor George84,Vasan Ramachandran S.85,Cho Michael H.86,Silverman Edwin K.86,Schwarz Marvin I.1,Steele Mark P.1,Lee Joyce S.1,Yang Ivana V.1,Fingerlin Tasha E.2,Schwartz David A.1ORCID

Affiliation:

1. Department of Medicine, University of Colorado, Anschutz Medical Campus, Aurora, Colorado;

2. National Jewish Health, Denver, Colorado;

3. Royal Prince Alfred Hospital, University of Sydney, Sydney, Australia;

4. Menzies Institute of Medical Research, University of Tasmania, Hobart, Tasmania, Australia;

5. Allergy, Asthma and Clinical Immunology Clinic, Alfred Health, Sydney, Australia;

6. Department of Respiratory Medicine, University of Western Australia, Perth, Australia;

7. Department of Respiratory Medicine, University Thomayer Hospital, Prague, Czech Republic;

8. Center for Rare Lung Diseases, Department of Respiratory Diseases and Allergy, Aarhus University Hospital, Aarhus, Denmark;

9. Department of Clinical Medicine, Aarhus University, Aarhus, Denmark;

10. South Danish Center for Interstitial Lung Diseases, Department of Respiratory Medicine, Odense University Hospital, Odense, Denmark;

11. Service de Pneumologie A and

12. Université Paris Cité, INSERM, Physiopathologie et Épidémiologie des Maladies Respiratoires, Paris, France;

13. Service de Rhumatologie, Hopital Bichat, Paris, France;

14. Center for Interstitial and Rare Lung Diseases, Ruhrlandklinik University Hospital, University of Duisburg-Essen, Essen, Germany;

15. Faculty of Medicine, University of Iceland, Reykjavik, Iceland;

16. Department of Respiratory Medicine and Sleep, Landspitali University Hospital, Reykjavik, Iceland;

17. Trinity College Dublin, Dublin, Ireland;

18. National Lung Transplantation Centre, Mater Misericordiae University Hospital, Dublin, Ireland;

19. Department of Respiratory Medicine, Cork University Hospital, Cork, Ireland;

20. St. Vincent’s University Hospital, University College Dublin, Dublin, Ireland;

21. Mater Misericordiae University Hospital, Dublin, Ireland;

22. Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy;

23. Università Cattolica del Sacro Cuore, Rome, Italy;

24. Department of Diseases of the Thorax, G. B. Morgagni Hospital, Forlì, Italy;

25. Department of Medical and Surgical Sciences, DIMES University of Bologna, Bologna, Italy;

26. Department of Internal Medicine, University of Genoa, Genoa, Italy;

27. Department of Clinical and Experimental Medicine, Interventional Pulmonology Unit, Careggi University Hospital, Florence, Italy;

28. Interventional Pulmonology Unit, Careggi University Hospital, Florence, Italy;

29. Faculty of Medicine, Gazi University, Ankara, Turkey;

30. Department of Pulmonology, Ege University Hospital, Izmir, Turkey;

31. Royal Papworth Hospital NHS Foundation Trust, Cambridge, United Kingdom;

32. University of Edinburgh, Edinburgh, United Kingdom;

33. National Heart and Lung Institute, Imperial College London, London, United Kingdom;

34. Keck Medicine of USC, University of Southern California, Los Angeles, California;

35. Division of Respiratory Medicine, University of Nottingham, Nottingham, United Kingdom;

36. Vanderbilt University Medical Center, Nashville, Tennessee;

37. Department of Pulmonary and Critical Care Medicine, Virginia Commonwealth University, Richmond, Virginia;

38. Inova Fairfax Hospital, Falls Church, Virginia;

39. Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania;

40. Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania;

41. Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Department of Medicine, University of California, San Francisco, San Francisco, California;

42. Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania;

43. Division of Pulmonary, Critical Care, and Sleep Medicine, School of Medicine, University of California, Davis, Sacramento, California;

44. Division of Pulmonary, Critical Care and Sleep Medicine, College of Medicine, University of Arizona, Phoenix, Arizona;

45. Regeneron Pharmaceuticals, Inc., Tarrytown, New York;

46. Department of Internal Medicine, University of California, Davis, Davis, California;

47. Baylor University Medical Center, Dallas, Texas;

48. Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, Massachusetts;

49. Department of Medicine,

50. Department of Medicine and

51. Division of Pulmonary, Critical Care and Sleep Medicine, Alpert Medical School, Brown University, Providence, Rhode Island;

52. Division of Pulmonary, Critical Care and Sleep Medicine, MedStar Georgetown University Hospital, Washington, DC;

53. Division of Pulmonary, Critical Care, and Sleep Medicine, Ohio State University, Columbus, Ohio;

54. Division of Pulmonary, Allergy, and Critical Care, Thomas Jefferson University, Philadelphia, Pennsylvania;

55. Columbia University Medical Center, New York, New York;

56. Institute for Respiratory Health, University of Western Australia, Perth, Australia;

57. Brown University, Providence, Rhode Island;

58. Hospital de Clínicas, Universidad de Buenos Aires, Buenos Aires, Argentina;

59. Instituto de Rehabilitación Psicofísica de Buenos Aires, Buenos Aires, Argentina;

60. Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada;

61. Departamento de Medicina, Universidad de Chile, Santiago, Chile;

62. College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia;

63. Department of Pulmonary Medicine, Heart and Lung Center, Helsinki University Hospital, Helsinki, Finland;

64. Department of Respiratory Medicine, Tokyo Medical and Dental University, Tokyo, Japan;

65. National Hospital Organization Kinki-Chuo Chest Medical Center, Osaka, Japan;

66. National Hospital Organization Tokyo National Hospital, Tokyo, Japan;

67. Department of Medicine, Showa University, Tokyo, Japan;

68. Asan Medical Center, University of Ulsan, Seoul, Republic of Korea;

69. Faculty of Sciences, Universidad Nacional Autónoma de México, Mexico City, Mexico;

70. Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico;

71. Cardiopulmonary Research Center, Alliance Pulmonary Group, Guaynabo, Puerto Rico;

72. Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea;

73. Seoul National University Bundang Hospital, Seoul National University, Seongnam, Republic of Korea;

74. Respiratory Department and

75. Interstitial Lung Disease Multidisciplinary Unit, University Hospital of Bellvitge, University of Barcelona, Barcelona, Spain;

76. Department of Experimental Medical Science, Lung Biology Unit, Lund University, Lund, Sweden;

77. Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan;

78. Center for Public Health Genomics, and

79. Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia;

80. Department of Medicine and Department of Epidemiology, Columbia University Medical Center, New York, New York;

81. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute at Harbor-UCLA Medical Center, Torrance, California;

82. Department of Biostatistics, School of Public Health, Boston University, Boston, Massachusetts;

83. Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, Quebec, Canada;

84. Pulmonary Center, School of Medicine, Boston University, Boston, Massachusetts;

85. Boston University and National Heart, Lung, and Blood Institute Framingham Heart Study, Boston, Massachusetts; and

86. Channing Division of Network Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts

Funder

National Heart, Lung, and Blood Institute

U.S. Department of Veterans Affairs

U.S. Department of Defense

Publisher

American Thoracic Society

Subject

Critical Care and Intensive Care Medicine,Pulmonary and Respiratory Medicine

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