Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Autor: Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RV, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, A, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Consortium, UK NIHR Bioresource Rare Diseases, Consortium, UK PAH Cohort Study, Consortium, US PAH Biobank, McCarthy, M

Publikováno v: Lancet Respiratory medicine
Lancet Respiratory medicine, Elsevier, 2019, 7 (3), pp.227-238. ⟨10.1016/S2213-2600(18)30409-0⟩
Lancet respiratory medicine, 7(3), 227-238. Elsevier Limited
The Lancet. Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0

Background Raregenetic variantscause pulmonary arterial hypertension, but the contribution of commongenetic variationto disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertensio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ae9607d585d112e007c7f8cea64b0b66
https://hal.sorbonne-universite.fr/hal-02154109/file/1-s2.0-S2213260018304090-main.pdf

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

Autor: Rhodes CJ; Department of Medicine, Imperial College London, London, UK., Batai K; Department of Surgery, University of Arizona, Tucson, AZ, USA., Bleda M; Department of Medicine, University of Cambridge, Cambridge, UK., Haimel M; Department of Medicine, University of Cambridge, Cambridge, UK., Southgate L; Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK., Germain M; Sorbonne Universités, UPMC, INSERM, Paris, France., Pauciulo MW; Human Genetics, Cincinnati, OH, USA., Hadinnapola C; Department of Medicine, University of Cambridge, Cambridge, UK., Aman J; Department of Medicine, Imperial College London, London, UK., Girerd B; University Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France., Arora A; Department of Surgery, University of Arizona, Tucson, AZ, USA., Knight J; Data Science Institute, Lancaster University, Lancaster, UK., Hanscombe KB; Genetics and Molecular Medicine, King's College London, London, UK., Karnes JH; Pharmacy Practice and Science, University of Arizona, Tucson, AZ, USA., Kaakinen M; Department of Medicine, Imperial College London, London, UK., Gall H; University of Giessen and Marburg Lung Center, Giessen, Germany., Ulrich A; Department of Medicine, Imperial College London, London, UK., Harbaum L; Department of Medicine, Imperial College London, London, UK., Cebola I; Department of Medicine, Imperial College London, London, UK., Ferrer J; Department of Medicine, Imperial College London, London, UK., Lutz K; Human Genetics, Cincinnati, OH, USA., Swietlik EM; Department of Medicine, University of Cambridge, Cambridge, UK., Ahmad F; University of Iowa, Iowa City, IA, USA., Amouyel P; University of Lille, Lille, France., Archer SL; Queen's University, Kingston, ON, Canada., Argula R; Medical University of South Carolina, Charleston, SC, USA., Austin ED; Vanderbilt University, Nashville, TN, USA., Badesch D; University of Colorado Denver, Denver, CO, USA., Bakshi S; Baylor Research Institute, Plano, TX, USA., Barnett C; Medstar Health, Washington, DC, USA., Benza R; Allegheny-Singer Research Institute, Pittsburgh, PA, USA., Bhatt N; Ohio State University, Columbus, OH, USA., Bogaard HJ; VU University Medical Center, Amsterdam, Netherlands., Burger CD; Mayo Clinic Florida, Jacksonville, FL, USA., Chakinala M; Washington University, St Louis, MO, USA., Church C; Golden Jubilee National Hospital, Glasgow, UK., Coghlan JG; Royal Free Hospital, London, UK., Condliffe R; Royal Hallamshire Hospital, Sheffield, UK., Corris PA; University of Newcastle, Newcastle, UK., Danesino C; University of Pavia, Pavia, Italy., Debette S; University of Bordeaux, Bordeaux, France., Elliott CG; Intermountain Medical Center, Murray, UT, USA., Elwing J; University of Cincinnati, Cincinnati OH, USA., Eyries M; Sorbonne Universités, UPMC, INSERM, Paris, France., Fortin T; Duke University Medical Center, Durham, NC, USA; University of Kiel, Kiel, Germany., Franke A; University of Kiel, Kiel, Germany., Frantz RP; Mayo Clinic, Rochester, MN, USA., Frost A; Houston Methodist Research Institute, Houston, TX, USA., Garcia JGN; Department of Medicine, University of Arizona, Tucson, AZ, USA., Ghio S; Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Ghofrani HA; University of Giessen and Marburg Lung Center, Giessen, Germany., Gibbs JSR; National Heart and Lung Institute, Imperial College London, London, UK., Harley J; CAGE, Cincinnati, OH, USA., He H; Human Genetics, Cincinnati, OH, USA., Hill NS; Tufts-New England Medical Center, Boston, MA, USA., Hirsch R; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; University of Cincinnati, Cincinnati OH, USA., Houweling AC; VU University Medical Center, Amsterdam, Netherlands., Howard LS; National Heart and Lung Institute, Imperial College London, London, UK., Ivy D; Health Sciences Center, University of Colorado, Aurora, CO, USA., Kiely DG; Royal Hallamshire Hospital, Sheffield, UK., Klinger J; Rhode Island Hospital, Providence, RI, USA., Kovacs G; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Lahm T; Indiana University, Indianapolis, IN, USA., Laudes M; University of Kiel, Kiel, Germany., Machado RD; University of Lincoln, Lincoln, UK., MacKenzie Ross RV; Royal United Hospitals Bath NHS Foundation Trust, Bath, UK., Marsolo K; Biomedical Informatics, Cincinnati, OH, USA., Martin LJ; Human Genetics, Cincinnati, OH, USA., Moledina S; Great Ormond Street Hospital, London, UK., Montani D; University Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France., Nathan SD; Inova Heart and Vascular Institute, Falls Church, VA, USA., Newnham M; Department of Medicine, University of Cambridge, Cambridge, UK; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Olschewski A; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Olschewski H; Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria., Oudiz RJ; Harbor-UCLA Medical Center, Torrance, CA, USA., Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge, UK., Peacock AJ; Golden Jubilee National Hospital, Glasgow, UK., Pepke-Zaba J; Papworth Hospital, Papworth, UK., Rehman Z; East Carolina University, Greenville, NC, USA., Robbins I; Vanderbilt University School of Medicine, Nashville, TN, USA., Roden DM; Vanderbilt University School of Medicine, Nashville, TN, USA., Rosenzweig EB; Columbia University, New York, NY, USA., Saydain G; Wayne State University, Detroit, MI, USA., Scelsi L; Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Schilz R; University Hospital of Cleveland, Cleveland, OH, USA., Seeger W; University of Giessen and Marburg Lung Center, Giessen, Germany., Shaffer CM; Vanderbilt University School of Medicine, Nashville, TN, USA., Simms RW; Boston University School of Medicine, Boston, MA, USA., Simon M; University of Pittsburgh, Pittsburgh, PA, USA., Sitbon O; University Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France., Suntharalingam J; Royal United Hospitals Bath NHS Foundation Trust, Bath, UK., Tang H; Department of Medicine, University of Arizona, Tucson, AZ, USA., Tchourbanov AY; Ambry Genetics, Aliso Viejo, CA, USA., Thenappan T; University of Minnesota, Minneapolis, MN, USA., Torres F; University of Texas Southwestern Medical Center, Dallas, TX, USA., Toshner MR; Department of Medicine, University of Cambridge, Cambridge, UK., Treacy CM; Department of Medicine, University of Cambridge, Cambridge, UK., Vonk Noordegraaf A; VU University Medical Center, Amsterdam, Netherlands., Waisfisz Q; VU University Medical Center, Amsterdam, Netherlands., Walsworth AK; Human Genetics, Cincinnati, OH, USA., Walter RE; Louisiana State University Health, Shreveport, LA, USA., Wharton J; Department of Medicine, Imperial College London, London, UK., White RJ; University of Rochester Medical Center, Rochester, NY, USA., Wilt J; Spectrum Health Hospitals, Grand Rapids, MI, USA., Wort SJ; National Heart and Lung Institute, Imperial College London, London, UK., Yung D; Seattle Children's Hospital, Seattle, WA, USA., Lawrie A; University of Sheffield, Sheffield, UK., Humbert M; University Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France., Soubrier F; Sorbonne Universités, UPMC, INSERM, Paris, France., Trégouët DA; Sorbonne Universités, UPMC, INSERM, Paris, France., Prokopenko I; Department of Medicine, Imperial College London, London, UK., Kittles R; City of Hope, Duarte, CA, USA., Gräf S; Department of Medicine, University of Cambridge, Cambridge, UK., Nichols WC; Human Genetics, Cincinnati, OH, USA., Trembath RC; Genetics and Molecular Medicine, King's College London, London, UK., Desai AA; Indiana University, Indianapolis, IN, USA. Electronic address: ankdesai@iu.edu., Morrell NW; Department of Medicine, University of Cambridge, Cambridge, UK. Electronic address: nwm23@cam.ac.uk., Wilkins MR; Department of Medicine, Imperial College London, London, UK. Electronic address: m.wilkins@imperial.ac.uk.

Publikováno v: The Lancet. Respiratory medicine [Lancet Respir Med] 2019 Mar; Vol. 7 (3), pp. 227-238. Date of Electronic Publication: 2018 Dec 05.