Nature Communications (Apr 2018)
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
- Stefan Gräf,
- Matthias Haimel,
- Marta Bleda,
- Charaka Hadinnapola,
- Laura Southgate,
- Wei Li,
- Joshua Hodgson,
- Bin Liu,
- Richard M. Salmon,
- Mark Southwood,
- Rajiv D. Machado,
- Jennifer M. Martin,
- Carmen M. Treacy,
- Katherine Yates,
- Louise C. Daugherty,
- Olga Shamardina,
- Deborah Whitehorn,
- Simon Holden,
- Micheala Aldred,
- Harm J. Bogaard,
- Colin Church,
- Gerry Coghlan,
- Robin Condliffe,
- Paul A. Corris,
- Cesare Danesino,
- Mélanie Eyries,
- Henning Gall,
- Stefano Ghio,
- Hossein-Ardeschir Ghofrani,
- J. Simon R. Gibbs,
- Barbara Girerd,
- Arjan C. Houweling,
- Luke Howard,
- Marc Humbert,
- David G. Kiely,
- Gabor Kovacs,
- Robert V. MacKenzie Ross,
- Shahin Moledina,
- David Montani,
- Michael Newnham,
- Andrea Olschewski,
- Horst Olschewski,
- Andrew J. Peacock,
- Joanna Pepke-Zaba,
- Inga Prokopenko,
- Christopher J. Rhodes,
- Laura Scelsi,
- Werner Seeger,
- Florent Soubrier,
- Dan F. Stein,
- Jay Suntharalingam,
- Emilia M. Swietlik,
- Mark R. Toshner,
- David A. van Heel,
- Anton Vonk Noordegraaf,
- Quinten Waisfisz,
- John Wharton,
- Stephen J. Wort,
- Willem H. Ouwehand,
- Nicole Soranzo,
- Allan Lawrie,
- Paul D. Upton,
- Martin R. Wilkins,
- Richard C. Trembath,
- Nicholas W. Morrell
Affiliations
- Stefan Gräf
- Department of Medicine, University of Cambridge
- Matthias Haimel
- Department of Medicine, University of Cambridge
- Marta Bleda
- Department of Medicine, University of Cambridge
- Charaka Hadinnapola
- Department of Medicine, University of Cambridge
- Laura Southgate
- Molecular and Clinical Sciences Research Institute, St George’s, University of London
- Wei Li
- Department of Medicine, University of Cambridge
- Joshua Hodgson
- Department of Medicine, University of Cambridge
- Bin Liu
- Department of Medicine, University of Cambridge
- Richard M. Salmon
- Department of Medicine, University of Cambridge
- Mark Southwood
- Royal Papworth Hospital
- Rajiv D. Machado
- Institute of Medical and Biomedical Education, St George’s University of London
- Jennifer M. Martin
- Department of Medicine, University of Cambridge
- Carmen M. Treacy
- Department of Medicine, University of Cambridge
- Katherine Yates
- Department of Medicine, University of Cambridge
- Louise C. Daugherty
- Department of Haematology, University of Cambridge
- Olga Shamardina
- Department of Haematology, University of Cambridge
- Deborah Whitehorn
- Department of Haematology, University of Cambridge
- Simon Holden
- Addenbrooke’s Hospital
- Micheala Aldred
- Cleveland Clinic, Cleveland
- Harm J. Bogaard
- VU University Medical Center
- Colin Church
- Golden Jubilee National Hospital
- Gerry Coghlan
- Royal Free Hospital
- Robin Condliffe
- Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital
- Paul A. Corris
- University of Newcastle
- Cesare Danesino
- Department of Molecular Medicine, University of Pavia
- Mélanie Eyries
- Département de génétique, hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, and UMR_S 1166-ICAN, INSERM, UPMC Sorbonne Universités
- Henning Gall
- University of Giessen and Marburg Lung Center (UGMLC), member of the German Center for Lung Research (DZL) and of the Excellence Cluster Cardio-Pulmonary System (ECCCPS)
- Stefano Ghio
- Fondazione IRCCS Policlinico San Matteo
- Hossein-Ardeschir Ghofrani
- University of Giessen and Marburg Lung Center (UGMLC), member of the German Center for Lung Research (DZL) and of the Excellence Cluster Cardio-Pulmonary System (ECCCPS)
- J. Simon R. Gibbs
- National Heart & Lung Institute, Imperial College London
- Barbara Girerd
- Université Paris-Sud, Faculté de Médecine, Université Paris-Saclay; AP-HP, Service de Pneumologie, Centre de référence de l’hypertension pulmonaire; INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre
- Arjan C. Houweling
- VU University Medical Center
- Luke Howard
- Imperial College London
- Marc Humbert
- Université Paris-Sud, Faculté de Médecine, Université Paris-Saclay; AP-HP, Service de Pneumologie, Centre de référence de l’hypertension pulmonaire; INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre
- David G. Kiely
- Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital
- Gabor Kovacs
- Ludwig Boltzmann Institute for Lung Vascular Research
- Robert V. MacKenzie Ross
- Royal United Hospitals Bath NHS Foundation Trust
- Shahin Moledina
- Great Ormond Street Hospital
- David Montani
- Université Paris-Sud, Faculté de Médecine, Université Paris-Saclay; AP-HP, Service de Pneumologie, Centre de référence de l’hypertension pulmonaire; INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre
- Michael Newnham
- Department of Medicine, University of Cambridge
- Andrea Olschewski
- Ludwig Boltzmann Institute for Lung Vascular Research
- Horst Olschewski
- Ludwig Boltzmann Institute for Lung Vascular Research
- Andrew J. Peacock
- Golden Jubilee National Hospital
- Joanna Pepke-Zaba
- Royal Papworth Hospital
- Inga Prokopenko
- Imperial College London
- Christopher J. Rhodes
- Imperial College London
- Laura Scelsi
- Fondazione IRCCS Policlinico San Matteo
- Werner Seeger
- University of Giessen and Marburg Lung Center (UGMLC), member of the German Center for Lung Research (DZL) and of the Excellence Cluster Cardio-Pulmonary System (ECCCPS)
- Florent Soubrier
- Département de génétique, hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, and UMR_S 1166-ICAN, INSERM, UPMC Sorbonne Universités
- Dan F. Stein
- Department of Medicine, University of Cambridge
- Jay Suntharalingam
- Royal United Hospitals Bath NHS Foundation Trust
- Emilia M. Swietlik
- Department of Medicine, University of Cambridge
- Mark R. Toshner
- Department of Medicine, University of Cambridge
- David A. van Heel
- Blizard Institute, Queen Mary University of London
- Anton Vonk Noordegraaf
- VU University Medical Center
- Quinten Waisfisz
- VU University Medical Center
- John Wharton
- Imperial College London
- Stephen J. Wort
- Imperial College London
- Willem H. Ouwehand
- Department of Haematology, University of Cambridge
- Nicole Soranzo
- Department of Haematology, University of Cambridge
- Allan Lawrie
- Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield
- Paul D. Upton
- Department of Medicine, University of Cambridge
- Martin R. Wilkins
- Imperial College London
- Richard C. Trembath
- Division of Genetics & Molecular Medicine, King’s College London
- Nicholas W. Morrell
- Department of Medicine, University of Cambridge
- DOI
- https://doi.org/10.1038/s41467-018-03672-4
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 16
Abstract
Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and identify likely causal variants in GDF2, ATP13A3, AQP1 and SOX17.
