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Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis

Allen, Richard J.; Guillen-Guio, Beatriz; Oldham, Justin M.; Ma, Shwu-Fan; Dressen, Amy; Paynton, Megan L.; Kraven, Luke M.; Obeidat, Ma'en; Li, Xuan; Ng, Michael; Braybrooke, Rebecca; Molina-Molina, Maria; Hobbs, Brian D.; Putman, Rachel K.; Sakornsakolpat, Phuwanat; Booth, Helen L.; Fahy, William A.; Hart, Simon P.; Hill, Mike R.; Hirani, Nik; Hubbard, Richard B.; McAnulty, Robin J.; Millar, Ann B.; Navaratnam, Vidyia; Oballa, Eunice; Parfrey, Helen; Saini, Gauri; Whyte, Moira K. B.; Zhang, Yingze; Kaminski, Naftali; Adegunsoye, Ayodeji; Strek, Mary E.; Neighbors, Margaret; Sheng, Xuting R.; Gudmundsson, Gunnar; Gudnason, Vilmundur; Hatabu, Hiroto; Lederer, David J.; Manichaikul, Ani; Newell Jr., John D.; O'Connor, George T.; Ortega, Victor E.; Xu, Hanfei; Fingerlin, Tasha E.; Boss?, Yohan; Hao, Ke; Joubert, Philippe; Nickle, David C.; Sin, Don D.; Timens, Wim; Furniss, Dominic; Morris, Andrew P.; Zondervan, Krina; Hall, Ian P.; Sayers, Ian; Tobin, Martin D.; Maher, Toby M.; Cho, Mic...

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Richard J. Allen

Beatriz Guillen-Guio

Justin M. Oldham

Shwu-Fan Ma

Amy Dressen

Megan L. Paynton

Luke M. Kraven

Ma'en Obeidat

Xuan Li

Michael Ng

Rebecca Braybrooke

Maria Molina-Molina

Brian D. Hobbs

Rachel K. Putman

Phuwanat Sakornsakolpat

Helen L. Booth

William A. Fahy

Simon P. Hart

Mike R. Hill

Nik Hirani

Blf/Gsk Professor of Epidemiological Resp Research

Robin J. McAnulty

Ann B. Millar

Vidyia Navaratnam

Eunice Oballa

Helen Parfrey

Gauri Saini

Moira K. B. Whyte

Yingze Zhang

Naftali Kaminski

Ayodeji Adegunsoye

Mary E. Strek

Margaret Neighbors

Xuting R. Sheng

Gunnar Gudmundsson

Vilmundur Gudnason

Hiroto Hatabu

David J. Lederer

Ani Manichaikul

John D. Newell Jr.

George T. O'Connor

Victor E. Ortega

Hanfei Xu

Tasha E. Fingerlin


Ke Hao

Philippe Joubert

David C. Nickle

Don D. Sin

Wim Timens

Dominic Furniss

Andrew P. Morris

Krina Zondervan

Professor of Molecular Medicine

Martin D. Tobin

Toby M. Maher

Michael H. Cho

Gary M. Hunninghake

David A. Schwartz

Brian L. Yaspan

Philip L. Molyneaux

Carlos Flores

Imre Noth

R. Gisli Jenkins

Louise V. Wain


Idiopathic pulmonary fibrosis (IPF) is a complex lung disease characterised by scarring of the lung that is believed to result from an atypical response to injury of the epithelium. Genome-wide association studies have reported signals of association implicating multiple pathways including host defence, telomere maintenance, signalling and cell-cell adhesion.

To improve our understanding of factors that increase IPF susceptibility by identifying previously unreported genetic associations.

We conducted genome-wide analyses across three independent studies and meta-analysed these results to generate the largest genome-wide association study of IPF to date (2,668 IPF cases and 8,591 controls). We performed replication in two independent studies (1,456 IPF cases and 11,874 controls) and functional analyses (including statistical fine-mapping, investigations into gene expression and testing for enrichment of IPF susceptibility signals in regulatory regions) to determine putatively causal genes. Polygenic risk scores were used to assess the collective effect of variants not reported as associated with IPF.

We identified and replicated three new genome-wide significant (P


Allen, R. J., Guillen-Guio, B., Oldham, J. M., Ma, S., Dressen, A., Paynton, M. L., …Wain, L. V. (2020). Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis. American Journal of Respiratory and Critical Care Medicine, 201(5), 564-574.

Journal Article Type Article
Acceptance Date Nov 7, 2019
Online Publication Date Nov 11, 2019
Publication Date Mar 1, 2020
Deposit Date Jan 28, 2020
Publicly Available Date Mar 12, 2020
Journal American Journal of Respiratory and Critical Care Medicine
Print ISSN 1073-449X
Electronic ISSN 1535-4970
Publisher American Thoracic Society
Peer Reviewed Peer Reviewed
Volume 201
Issue 5
Pages 564-574
Keywords Critical Care and Intensive Care Medicine; Pulmonary and Respiratory Medicine
Public URL
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