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

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https://hal.sorbonne-universite.fr/hal-02154109/file/1-s2.0-S2213260018304090-main.pdf

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