Published May 1, 2023
| Version v1
Publication
Open
Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants
Creators
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Anna L. Peljto1
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Rachel Z. Blumhagen1, 2, 3
- Avram Walts2, 3
- Jonathan Cardwell1
- Julia Powers1
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Tamera J. Corte4, 5
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Joanne L. Dickinson6
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Ian Glaspole7
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Yuben Moodley8
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Martina Vašáková1
- Elisabeth Bendstrup9, 10, 11
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Jesper Rømhild Davidsen12
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Raphaël Borie13
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Bruno Crestani13, 14, 15, 16
- Philippe Dieudé13
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Francesco Bonella17, 18
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Ulrich Costabel17, 18
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Gunnar Guðmundsson19, 20, 21
- Seamas C Donnelly22
- Jim Egan23
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Michael T. Henry24
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Michael P. Keane25, 26
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Marcus P. Kennedy24
- Cormac McCarthy25, 26
- Aoife McElroy22
- Joshua A. Olaniyi22
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Katherine Ma O'Reilly23
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Luca Richeldi27, 28, 29
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Paolo Maria Leone27, 28, 29
- Venerino Poletti30, 31
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Francesco Puppo32
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Sara Tomassetti33
- Valentina Luzzi33
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Nurdan Köktürk34
- Nesrin Moğulkoç35
- Christine Fiddler36
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Nikhil Hirani37
- R. Gisli Jenkins38
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Toby M. Maher38, 39
- Philip L. Molyneaux38
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Helen Parfrey36
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Rebecca Braybrooke40
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Timothy S. Blackwell41
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Peter Jackson42
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Steven D. Nathan43
- Mary K. Porteous44
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Kevin K. Brown2, 3
- Jason D. Christie45
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Harold R. Collard46
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Oliver Eickelberg47
- Elena Foster48
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Kevin F. Gibson47
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Marilyn K. Glassberg49
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Daniel J. Kass47
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Jonathan A. Kropski41
- David J. Lederer50, 1
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A. Linderholm1
- JE Loyd1
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Susan K. Mathai1
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Sydney B. Montesi1
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Imre Noth1
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Justin M. Oldham1
- Amy Palmisciano51, 52
- Cristina Reichner53, 54
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Mauricio Rojas1
- Jesse Roman1
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Neil W. Schluger1
- Barry S. Shea51, 52
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Jeffrey J. Swigris1
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Paul J. Wolters46
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Yingze Zhang47
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Cecilia M. Prêle1
- Juan Ignacio Enghelmayer1, 55, 56
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María Otaola57, 1
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Christopher J. Ryerson1
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Mauricio Salinas58, 1
- Martina Šterclová9
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Tewodros Haile Gebremariam1
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Marjukka Myllärniemi1
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Roberto Carbone32
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Haruhiko Furusawa1
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Masaki Hirose1
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Yoshikazu Inoue1
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Yasunari Miyazaki1
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Ken Ohta59, 1
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Shin Ohta1
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Tsukasa Okamoto1
- Dong Soon Kim1
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Annie Pardo60, 1
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Moisés Selman61, 1
- Alvaro U. Aranda62, 1
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Moo Suk Park1
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Jong Sun Park1
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Jin Woo Song1
- María Molina-Molina1
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Lurdes Planas‐Cerezales63, 64
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Gunilla Westergren‐Thorsson1
- Albert V. Smith1
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Ani Manichaikul65, 1
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John S. Kim1
- 1. University of Colorado Anschutz Medical Campus
- 2. National Jewish Health
- 3. University of Colorado Denver
- 4. Royal Prince Alfred Hospital
- 5. University of Sydney
- 6. University of Tasmania
- 7. Alfred Health
- 8. University of Western Australia
- 9. Aarhus University Hospital
- 10. Aarhus University
- 11. Thomayer University Hospital
- 12. Odense University Hospital
- 13. Hôpital Bichat-Claude-Bernard
- 14. Physiopathologie et Epidémiologie des Maladies Respiratoires
- 15. Université Paris Cité
- 16. Inserm
- 17. Ruhrlandklinik
- 18. University of Duisburg-Essen
- 19. National University Hospital of Iceland
- 20. University of Iceland
- 21. Reykjavík University
- 22. Trinity College Dublin
- 23. Mater Misericordiae University Hospital
- 24. Cork University Hospital
- 25. St. Vincent's University Hospital
- 26. University College Dublin
- 27. Agostino Gemelli University Polyclinic
- 28. Istituti di Ricovero e Cura a Carattere Scientifico
- 29. Università Cattolica del Sacro Cuore
- 30. Ospedale G.B. Morgagni - L.Pierantoni
- 31. University of Bologna
- 32. University of Genoa
- 33. Azienda Ospedaliero-Universitaria Careggi
- 34. Gazi University
- 35. Ege University
- 36. Papworth Hospital NHS Foundation Trust
- 37. University of Edinburgh
- 38. Imperial College London
- 39. University of Southern California
- 40. University of Nottingham
- 41. Vanderbilt University Medical Center
- 42. Virginia Commonwealth University
- 43. Inova Fairfax Hospital
- 44. Hospital of the University of Pennsylvania
- 45. University of Pennsylvania
- 46. University of California, San Francisco
- 47. University of Pittsburgh
- 48. University of California, Davis
- 49. University of Arizona
- 50. Regeneron (United States)
- 51. Brown University
- 52. Providence College
- 53. MedStar Georgetown University Hospital
- 54. Georgetown University
- 55. Hospital de Clínicas "José de San Martín"
- 56. University of Buenos Aires
- 57. Instituto Nacional de Rehabilitación Psicofísica
- 58. University of Chile
- 59. Tokyo National Hospital
- 60. Universidad Nacional Autónoma de México
- 61. Instituto Nacional de Enfermedades Respiratorias
- 62. Pulmonary Associates
- 63. Bellvitge University Hospital
- 64. Universitat de Barcelona
- 65. Office of Public Health Genomics
Description
Count: 3,247 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 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.
Translated Descriptions
⚠️
This is an automatic machine translation with an accuracy of 90-95%
Translated Description (Arabic)
العدد: 3,247 المتغيرات النادرة داخل جينات TERT و RTEL1 والمتغيرات الشائعة الراسخة لها أكبر مساهمة في مخاطر IPF بشكل عام. من المرجح أن يكون للجهود المبذولة في تحديد ملامح المخاطر أو تطوير علاجات IPF التي تركز على TERT و RTEL1 والمتغيرات الشائعة وعوامل الخطر البيئية أكبر تأثير على هذا المرض المعقد.Translated Description (French)
Nombre : 3 247 variants rares dans les gènes TERT et RTEL1 et des variants communs bien établis ont la plus grande contribution au risque de FPI dans l'ensemble. Les efforts dans le profilage des risques ou le développement de thérapies pour la FPI qui se concentrent sur TERT, RTEL1, les variants communs et les facteurs de risque environnementaux sont susceptibles d'avoir le plus grand impact sur cette maladie complexe.Translated Description (Spanish)
Recuento: 3.247 variantes raras dentro de los genes TERT y RTEL1 y variantes comunes bien establecidas tienen la mayor contribución al riesgo general de FPI. Es probable que los esfuerzos en el perfil de riesgo o el desarrollo de terapias para la FPI que SE centran en TERT, RTEL1, variantes comunes y factores de riesgo ambientales tengan el mayor impacto en esta compleja enfermedad.Files
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Additional details
Additional titles
- Translated title (Arabic)
- يرتبط التليف الرئوي مجهول السبب بالمتغيرات الوراثية الشائعة والمتغيرات النادرة المحدودة
- Translated title (French)
- La fibrose pulmonaire idiopathique est associée à des variantes génétiques courantes et à des variantes rares limitées
- Translated title (Spanish)
- La fibrosis pulmonar idiopática se asocia con variantes genéticas comunes y variantes raras limitadas
Identifiers
- Other
- https://openalex.org/W4313544423
- DOI
- 10.1164/rccm.202207-1331oc
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