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Articles, 16 registres trobats
Articles 16 registres trobats  1 - 10següent  anar al registre:
1.
19 p, 2.4 MB Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations / Temprano-Sagrera, Gerard (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Sitlani, Collen M. (University of Washington) ; Bone, William P. (University of Pennsylvania) ; Martín Bórnez, Miguel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Voight, Benjamin F. (University of Pennsylvania Perelman School of Medicine) ; Morrison, Alanna C. ; Damrauer, Scott M. ; de Vries, Paul S. ; Smith, Nicholas L. ; Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; Dehghan, Abbas ; Heath, Adam S. ; Reiner, Alex P. ; Johnson, Andrew ; Richmond, Anne ; Peters, Annette ; van Hylckama Vlieg, Astrid ; McKnight, Barbara ; Psaty, Bruce M. ; Hayward, Caroline ; Ward-Caviness, Cavin ; O'Donnell, Cristopher ; Chasman, Daniel ; Strachan, David P. ; Tregouet, David A. ; Mook-Kanamori, Dennis ; Gill, Dipender ; Thibord, Florian ; Asselbergs, Folkert W. ; Leebeek, Frank W. G. ; Rosendaal, Frits R. ; Davies, Gail ; Homuth, Georg ; Temprano, Gerard ; Campbell, Harry ; Taylor, Herman A. ; Bressler, Jan ; Huffman, Jennifer E. ; Rotter, Jerome I. ; Yao, Jie ; Wilson, James F. ; Bis, Joshua C. ; Hahn, Julie M. ; Desch, Karl C. ; Wiggins, Kerri L. ; Raffield, Laura M. ; Bielak, Lawrence F. ; Yanek, Lisa R. ; Kleber, Marcus E. ; Mueller, Martina ; Kavousi, Maryam ; Mangino, Massimo ; Liu, Melissa ; Brown, Michael R. ; Conomos, Matthew P. ; Jhun, Min-A. ; Chen, Ming-Huei ; de Maat, Moniek P. M. ; Pankratz, Nathan ; Smith, Nicholas L. ; Peyser, Patricia A. ; Elliot, Paul ; Wei, Peng ; Wild, Philipp S. ; Morange, Pierre E. ; van der Harst, Pim ; Yang, Qiong ; Le, Ngoc-Quynh ; Marioni, Riccardo ; Li, Ruifang ; Damrauer, Scott M. ; Cox, Simon R. ; Trompet, Stella ; Felix, Stephan B. ; Völker, Uwe ; Tang, Weihong ; Koenig, Wolfgang ; Jukema, J. Wouter ; Guo, Xiuqing ; Lindstrom, Sara ; Wang, Lu ; Smith, Erin N. ; Gordon, William ; van Hylckama Vlieg, Astrid ; de Andrade, Mariza ; Brody, Jennifer A. ; Pattee, Jack W. ; Haessler, Jeffrey ; Brumpton, Ben M. ; Suchon, Pierre ; Chen, Ming-Huei ; Turman, Constance ; Germain, Marine ; Wiggins, Kerri L. ; MacDonald, James ; Braekkan, Sigrid K. ; Armasu, Sebastian M. ; Pankratz, Nathan ; Jackson, Rabecca D. ; Nielsen, Jonas B. ; Giulianini, Franco ; Puurunen, Marja K. ; Ibrahim, Manal ; Heckbert, Susan R. ; Bammler, Theo K. ; Frazer, Kelly A. ; McCauley, Bryan M. ; Taylor, Kent ; Pankow, James S. ; Reiner, Alexander P. ; Gabrielsen, Maiken E. ; Deleuze, Jean-François ; O'Donnell, Chris J. ; Kim, Jihye ; McKnight, Barbara ; Kraft, Peter ; Hansen, John-Bjarne ; Rosendaal, Frits R. ; Heit, John A. ; Psaty, Bruce M. ; Tang, Weihong ; Kooperberg, Charles ; Hveem, Kristian ; Ridker, Paul M. ; Morange, Pierre-Emmanuel ; Johnson, Andrew D. ; Kabrhel, Christopher ; Trégouët, David-Alexandre ; Smith, Nicholas L. ; Malik, Rainer ; Chauhan, Ganesh ; Traylor, Matthew ; Sargurupremraj, Muralidharan ; Okada, Yukinori ; Mishra, Aniket ; Rutten-Jacobs, Loes ; Giese, Anne-Katrin ; van der Laan, Sander W. ; Gretarsdottir, Solveig ; Anderson, Christopher D. ; Chong, Michael ; Adams, Hieab HH. ; Ago, Tetsuro ; Almgren, Peter ; Amouyel, Philippe ; Ay, Hakan ; Bartz, Traci M. ; Benavente, Oscar R. ; Bevan, Steve ; Boncoraglio, Giorgio B. ; Brown, Robert D. ; Butterworth, Aadam S. ; Carrera, Caty ; Carty, Cara L. ; Chen, Wei-Min ; Cole, John W. ; Correa, Adolfo ; Cotlarciuc, Ioanna ; Cruchaga, Carlos ; Danesh, John ; de Bakker, Paul I. W. ; DeStefano, Anita L. ; den Hoed, Marcel ; Duan, Qing ; Engelter, Stefan T. ; Falcone, Guido J. ; Gottesman, Rebecca F. ; Grewal, Raji P. ; Gudnason, Vilmundur ; Gustafsson, Stefan ; Haessler, Jeffrey ; Harris, Tamara B. ; Hassan, Ahamad ; Havulinna, Aki S. ; Heckbert, Susan R. ; Holliday, Elizabeth G. ; Howard, George ; Hsu, Fang-Chi ; Hyacinth, Hyacinth I. ; Arfan Ikram, M. ; Ingelsson, Erik ; Irvin, Marguerite R. ; Jian, Xueqiu ; Jiménez-Conde, Jordi ; Johnson, Julie A. ; Jukema, J. Wouter ; Kanai, Masahiro ; Keene, Keith L. ; Kissela, Brett M. ; Kleindorfer, Dawn O. ; Kooperberg, Charles ; Kubo, Michiaki ; Lange, Leslie A. ; Langefeld, Carl D. ; Langenberg, Claudia ; Launer, Lenore J. ; Lee, Jin-Moo ; Lemmens, Robin ; Leys, Didier ; Lewis, Cathryn M. ; Lin, Wei-Yu ; Lindgren, Arne G. ; Lorentzen, Erik ; Magnusson, Patrik K. ; Maguire, Jane ; Manichaikul, Ani ; McArdle, Patrick F. ; Meschia, James F. ; Mitchell, Braxton D. ; Mosley, Thomas H. ; Nalls, Michael A. ; Ninomiya, Toshiharu ; O'Donnell, Martin J. ; Psaty, Bruce M. ; Pulit, Sara L. ; Rannikmäe, Kristiina ; Reiner, Alexander P. ; Rexrode, Kathryn M. ; Rice, Kenneth ; Rich, Stephen S. ; Ridker, Paul M. ; Rost, Natalia S. ; Rothwell, Peter M. ; Rotter, Jerome I. ; Rundek, Tatjana ; Sacco, Ralph L. ; Sakaue, Saori ; Sale, Michele M. ; Salomaa, Veikko ; Sapkota, Bishwa R. ; Schmidt, Reinhold ; Schmidt, Carsten O. ; Schminke, Ulf ; Sharma, Pankaj ; Slowik, Agnieszka ; Sudlow, Cathie L. M. ; Tanislav, Christian ; Tatlisumak, Turgut ; Taylor, Kent D. ; Thijs, Vincent N. S. ; Thorleifsson, Gudmar ; Thorsteinsdottir, Unnur ; Tiedt, Steffen ; Trompet, Stella ; Tzourio, Christophe ; van Duijn, Cornelia M. ; Walters, Matthew ; Wareham, Nicholas J. ; Wassertheil-Smoller, Sylvia ; Wilson, James G. ; Wiggins, Kerri L. ; Yang, Qiong ; Yusuf, Salim ; Amin, Najaf ; Aparicio, Hugo S. ; Arnett, Donna K. ; Attia, John ; Beiser, Alexa S. ; Berr, Claudine ; Buring, Julie E. ; Bustamante, Mariana ; Caso, Valeria ; Cheng, Yu-Ching ; Hoan Choi, Seung ; Chowhan, Ayesha ; Cullell, Natalia ; Dartigues, Jean-François ; Delavaran, Hossein ; Delgado, Pilar ; Dörr, Marcus ; Engström, Gunnar ; Ford, Ian ; Gurpreet, Wander S. ; Hamsten, Anders ; Heitsch, Laura ; Hozawa, Aatsushi ; Ibanez, Laura ; Ilinca, Andrea ; Ingelsson, Martin ; Iwasaki, Motoki ; Jackson, Rebecca D. ; Jood, Katarina ; Jousilahti, Pekka ; Kaffashian, Sara ; Kalra, Lalit ; Kamouchi, Masahiro ; Kitazono, Takanari ; Kjartansson, Olafur ; Kloss, Manja ; Koudstaal, Peter J. ; Krupinski, Jerzy ; Labovitz, Daniel L. ; Laurie, Cathy C. ; Levi, Christhoper R. ; Li, Linxin ; Lind, Lars ; Lindgren, Cecilia M. ; Lioutas, Vasileios ; Mei Liu, Yong ; Lopez, Oscar L. ; Makoto, Hirata ; Martinez-Majander, Nicolas ; Matsuda, Koichi ; Minegishi, Naoko ; Montaner, Joan ; Morris, Andrew P. ; Muiño, Elena ; Müller-Nurasyid, Martina ; Norrving, Bo ; Ogishima, Soichi ; Parati, Eugenio A. ; Reddy Peddareddygari, Leema ; Pedersen, Nancy L. ; Pera, Joanna ; Perola, Markus ; Pezzini, Alessandro ; Pileggi, Silvana ; Rabionet, Raquel ; Riba-Llena, Iolanda ; Ribasés, Marta ; Romero, Jose R. ; Roquer, Jaume ; Rudd, Anthony G. ; Sarin, Antti-Pekka ; Sarju, Ralhan ; Sarnowski, Chloe ; Sasaki, Makoto ; Satizabal, Claudia L. ; Satoh, Mamoru ; Sattar, Naveed ; Sawada, Norie ; Sibolt, Gerli ; Sigurdsson, Ásgeir ; Smith, Albert ; Sobue, Kenji ; Soriano-Tárraga, Carolina ; Stanne, Tara ; Colin Stine, O. ; Stott, David J. ; Strauch, Konstantin ; Takai, Takako ; Tanaka, Hideo ; Tanno, Kozo ; Teumer, Alexander ; Tomppo, Liisa ; Torres-Aguila, Nuria P. ; Touze, Emmanuel ; Tsugane, Shoichiro ; Uitterlinden, Aandre G. ; Valdimarsson, Einar M. ; van der Lee, Sven J. ; Völzke, Henry ; Wakai, Kenji ; Weir, David ; Williams, Stephen R. ; Wolfe, Charles D.A. ; Wong, Quenna ; Xu, Huichun ; Yamaji, Taiki ; Sanghera, Dharambir K. ; Melander, Olle ; Jern, Christina ; Strbian, Daniel ; Fernandez-Cadenas, Israel ; Longstreth, W.T. ; Rolfs, Arndt ; Hata, Jun ; Woo, Daniel ; Rosand, Jonathan ; Pare, Guillaume ; Hopewell, Jemma C. ; Saleheen, Danish ; Stefansson, Kari ; Worrall, BradfordB. ; Kittner, Steven J. ; Seshadri, Sudha ; Fornage, Myriam ; Markus, Hugh S. ; Howson, Joana M. M. ; Kamatani, Yoichiro ; Debette, Stephanie ; Dichgans, Martin ; Universitat Autònoma de Barcelona
Multi-phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes. [...]
2022 - 10.1111/jth.15698
Journal of Thrombosis and Haemostasis, Vol. 20 Núm. 6 (01 2022) , p. 1331-1349  
2.
12 p, 1.2 MB Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis / Gao, Yixin (Xuzhou Medical University) ; Wang, Ting (Xuzhou Medical University) ; Yu, Xinghao (Xuzhou Medical University) ; Ferrari, Raffaele (Russell Square House) ; Hernandez, Dena G. (Queen Square) ; Nalls, Michael A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Rohrer, Jonathan D. (Queen Square) ; Ramasamy, Adaikalavan (University of Oxford) ; Kwok, John B.J. (University of New South Wales) ; Dobson-Stone, Carol (University of New South Wales) ; Brooks, William S. (University of New South Wales) ; Schofield, Peter R. (Neuroscience Research Australia) ; Halliday, Glenda M. (Neuroscience Research Australia) ; Hodges, John R. (Neuroscience Research Australia) ; Piguet, Olivier (Neuroscience Research Australia) ; Bartley, Lauren (Neuroscience Research Australia) ; Thompson, Elizabeth (University of Adelaide) ; Haan, Eric (University of Adelaide) ; Hernández, Isabel (Institut Català de Neurociéncies Aplicades) ; Ruiz, Agustín (Institut Català de Neurociéncies Aplicades) ; Boada, Mercè (Institut Català de Neurociéncies Aplicades) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Cruchaga, Carlos (Washington University School of Medicine) ; Cairns, Nigel J. (Washington University) ; Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Forloni, Gianluigi (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ; Albani, Diego (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ; Galimberti, Daniela (IRCCS Ospedale Maggiore Policlinico) ; Fenoglio, Chiara (IRCCS Ospedale Maggiore Policlinico) ; Serpente, Maria (IRCCS Ospedale Maggiore Policlinico) ; Scarpini, Elio (University of Milan) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ; Waldö, Maria Landqvist (Lund University) ; Nilsson, Karin (Lund University) ; Nilsson, Christer (Lund University) ; Mackenzie, Ian R.A. (University of British Columbia) ; Hsiung, Ging-Yuek R. (University of British Columbia) ; Mann, David M. A. (Salford Royal Hospital) ; Grafman, Jordan (Northwestern University) ; Morris, Christopher M. (Newcastle University) ; Attems, Johannes (Newcastle University) ; Griffiths, Timothy D. (Newcastle University Medical School) ; McKeith, Ian G. (Newcastle University) ; Thomas, Alan J. (Newcastle University) ; Pietrini, Pietro (IMT School for Advanced Studies) ; Huey, Edward D. (Columbia University) ; Wassermann, Eric M. (National Insititutes of Health) ; Baborie, Atik (University of Alberta Edmonton) ; Jaros, Evelyn (Newcastle University) ; Tierney, Michael C. (National Insititutes of Health) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Razquin, Cristina (Universidad de Navarra) ; Ortega-Cubero, Sara (Universidad de Navarra) ; Alonso, Elena (Universidad de Navarra) ; Perneczky, Robert (West London Mental Health Trust) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Kurz, Alexander (Technische Universität München) ; Rainero, Innocenzo (A.O. Città della Salute e della Scienza di Torino) ; Rubino, Elisa (A.O. Città della Salute e della Scienza di Torino) ; Pinessi, Lorenzo (A.O. Città della Salute e della Scienza di Torino) ; Rogaeva, Ekaterina (University of Toronto) ; St George Hyslop, Peter (University of Cambridge) ; Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ; Rowe, James B. (Behavioural and Clinical Neuroscience Institute) ; Schlachetzki, Johannes C. M. (University of California San Diego) ; Uphill, James (University College London. Institute of Neurology) ; Collinge, John (University College London. Institute of Neurology) ; Mead, Simon (University College London. Institute of Neurology) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Van Deerlin, Vivianna M. (University of Pennsylvania Perelman School of Medicine) ; Grossman, Murray (University of Pennsylvania Perelman School of Medicine) ; Trojanowski, John Q. (University of Pennsylvania Perelman School of Medicine) ; van der Zee, Julie (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Cappa, Stefano F. (Vita-Salute University and San Raffaele Scientific Institute) ; Leber, Isabelle (CNRS UMR 7225) ; Hannequin, Didier (Rouen University Hospital (França)) ; Golfier, Véronique (CH Saint Brieuc) ; Vercelletto, Martine (CHU Nantes) ; Brice, Alexis (AP-HP. Hôpital de la Salpêtrière) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence and IRCCS "Don Carlo Gnocchi" Firenze) ; Bagnoli, Silvia (University of Florence) ; Piaceri, Irene (University of Florence) ; Nielsen, Jørgen E. (Copenhagen University Hospital) ; Hjermind, Lena E. (University of Copenhagen) ; Riemenschneider, Matthias (Saarland University) ; Mayhaus, Manuel (Saarland University) ; Ibach, Bernd (University Regensburg) ; Gasparoni, Gilles (Saarland University) ; Pichler, Sabrina (Saarland University) ; Gu, Wei (University of Luxembourg) ; Rossor, Martin N. (Queen Square) ; Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ; Warren, Jason D. (Queen Square) ; Spillantini, Maria Grazia (University of Cambridge) ; Morris, Huw R. (Russell Square House) ; Rizzu, Patrizia (German Center for Neurodegenerative Diseases-Tübingen) ; Heutink, Peter (German Center for Neurodegenerative Diseases-Tübingen) ; Snowden, Julie S. (University of Manchester) ; Rollinson, Sara (University of Manchester) ; Richardson, Anna (University of Manchester) ; Gerhard, Alexander (The University of Manchester) ; Bruni, Amalia C. (ASPCZ) ; Maletta, Raffaele (ASPCZ) ; Frangipane, Francesca (ASPCZ) ; Cupidi, Chiara (ASPCZ) ; Bernardi, Livia (ASPCZ) ; Anfossi, Maria (ASPCZ) ; Gallo, Maura (ASPCZ) ; Conidi, Maria Elena (ASPCZ) ; Smirne, Nicoletta (ASPCZ) ; Rademakers, Rosa (Mayo Clinic Jacksonville) ; Baker, Matt (Mayo Clinic Jacksonville) ; Dickson, Dennis W. (Mayo Clinic Jacksonville) ; Graff-Radford, Neill R. (Mayo Clinic Jacksonville) ; Petersen, Ronald C. (Mayo Clinic Rochester) ; Knopman, David (Mayo Clinic Rochester) ; Josephs, Keith A. (Mayo Clinic Rochester) ; Boeve, Bradley (Mayo Clinic Rochester) ; Parisi, Joseph E. (Mayo Clinic Rochester) ; Seeley, William W. (University of California) ; Miller, Bruce L. (University of California) ; Karydas, Anna M. (University of California) ; Rosen, Howard (University of California) ; van Swieten, John C. (VU University Medical Centre) ; Dopper, Elise G. P. (Erasmus Medical Centre) ; Seelaar, Harro (Erasmus Medical Centre) ; Pijnenburg, Yolande A. L. (VU University Medical Centre) ; Scheltens, Philip (VU University Medical Centre) ; Logroscino, Giancarlo (University of Bari) ; Capozzo, Rosa (University of Bari) ; Novelli, Valeria (Fondazione Policlinico Universitario A. Gemelli) ; Puca, Annibale A. (University of Salerno) ; Franceschi, Massimo (IRCCS Multimedica) ; Postiglione, Alfredo (University of Naples Federico II) ; Milan, Graziella (Geriatric Center Frullone- ASL Napoli 1 Centro) ; Sorrentino, Paolo (Geriatric Center Frullone- ASL Napoli 1 Centro) ; Kristiansen, Mark (Institute of Child Health (ICH)) ; Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Pasquier, Florence (Univ Lille) ; Rollin, Adeline (Univ Lille) ; Deramecourt, Vincent (Univ Lille) ; Lebouvier, Thibaud (Univ Lille) ; Kapogiannis, Dimitrios (National Institute on Aging (NIA/NIH)) ; Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Pickering-Brown, S. (University of Manchester) ; Singleton, Andrew B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ; Hardy, John (Russell Square House) ; Momeni, Parastoo (Texas Tech University Health Science Center) ; Zhao, Huashuo (Xuzhou Medical University) ; Zeng, Ping (Xuzhou Medical University) ; Universitat Autònoma de Barcelona
We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). [...]
2020 - 10.1038/s41598-020-68848-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 12184  
3.
22 p, 1.4 MB Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers / Jansen, Iris (Vrije Universiteit Amsterdam) ; van der Lee, Sven J (Vrije Universiteit Amsterdam) ; Gomez-Fonseca, Duber (Washington University School of Medicine) ; De Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Dalmasso, Maria Carolina (Neurosciences and Complex Systems Unit (ENyS). CONICET. Hospital El Cruce. National University A. Jauretche (UNAJ)) ; Grenier-Boley, Benjamin (Université de Lille) ; Zettergren, Anna (University of Gothenburg) ; Mishra, Aniket (Université de Bordeaux) ; Ali, Muhammad (Washington University School of Medicine) ; Andrade, Victor (University Hospital Bonn. Medical Faculty) ; Bellenguez, Céline (Université de Lille) ; Kleineidam, Luca (German Center for Neurodegenerative Diseases (DZNE)) ; Küçükali, Fahri (University of Antwerp. Department of Biomedical Sciences) ; Sung, Ju Sung (Washington University School of Medicine) ; Tesí, Niccolo (Vrije Universiteit Amsterdam) ; Vromen, Ellen (Amsterdam Neuroscience. Neurodegeneration) ; Wightman, Douglas P (Vrije Universiteit Amsterdam) ; Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Alegret, Montserrat (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Alvarez, Ignacio (Fundació per a la Recerca Biomèdica i Social Mútua de Terrassa) ; Amouyel, Philippe (Université de Lille) ; Athanasiu, Lavinia (NORMENT Centre. Institute of Clinical Medicine. University of Oslo and Division of Mental Health) ; Bahrami, Shahram (NORMENT Centre. Institute of Clinical Medicine. University of Oslo and Division of Mental Health) ; Bailly, Henri (Université Paris Cité) ; Belbin, Olivia (Institut d'Investigació Biomèdica Sant Pau) ; Bergh, Sverre (Vestfold Hospital Trust) ; Bertram, Lars (University of Lübeck) ; Biessels, Geert Jan (UMC Utrecht Brain Center) ; Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ; Blesa, Rafael (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Boland, Anne (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ; Buerger, K. (Institute for Stroke and Dementia Research (ISD). University Hospital. LMU Munich) ; Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica-CIBERER-IDIS) ; Cervera Carles, Laura (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Chene, Geneviève (Department of Neurology. CHU de Bordeaux) ; Claassen, Jurgen (Donders Center for Medical Neuroscience) ; Debette, Stephanie (University School of Medicine) ; Deleuze, Jean‑Francois (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ; De Deyn, Peter Paul (University Medical Center Groningen. Department of Neurology and Alzheimer Center Groningen.) ; Diehl-Schmid, Janine (kbo-Inn-Salzach-Hospital) ; Djurovic, Srdjan (University of Bergen. Department of Clinical Science. NORMENT Centre.) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Dufouil, Carole (Pôle de Santé Publique) ; Duron, Emmanuelle (Univerisité Paris-Saclay) ; Düzel, Emrah (Otto-von-Guericke University Magdeburg. Institute of Cognitive Neurology and Dementia Research) ; Fladby, Tormod (Akershus University Hospital. Department of Neurology.) ; Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; Frölich, Lutz (Medical Faculty Mannheim. Department of Geriatric Psychiatry. Central Institute of Mental Health.) ; García-González, Pablo (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Garcia-Martinez, María (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Giegling, Ina (Medical University of Vienna) ; Goldhardt, Oliver (Technical University of Munich) ; Gobom, Johan (Sahlgrenska University Hospital (Suècia)) ; Grimmer, Timo (Technical University of Munich) ; Haapasalo, Annakaisa (University of Eastern Finland A.I. Virtanen Institute for Molecular Sciences) ; Hampel, Harald (Neurology Business Group. Eisai Inc) ; Hanon, Olivier (Service gériatrie. Centre Mémoire de Ressources et Recherches Ile de France-Broca. AP-HP. Hôpital Broca) ; Hausner, Lucrezia (Central Institute of Mental Health. Department of Geriatric Psychiatry) ; Heilmann-Heimbach, Stefanie (Institute of Human Genetics. University of Bonn. School of Medicine and University Hospital Bonn) ; Helisalmi, Seppo (University of Eastern Finland. Institute of Clinical Medicine) ; Heneka, Michael (German Center for Neurodegenerative Diseases (DZNE)) ; Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Herukka, Sanna‑Kaisa (University of Eastern Finland. Department of Neurology. Institute of Clinical Medicine) ; Holstege, Henne (Vrije Universiteit Amsterdam. Section Genomics of Neurodegenerative Diseases and Aging) ; Jarholm, Jonas (Akershus University Hospital. Department of Neurology.) ; Kern, Silke (Sahlgrenska University Hospital. Psychiatry. Cognition and Old Age Psychiatry Clinic) ; Knapskog, Anne‑Brita (Oslo University Hospital. Department of Geriatric Medicine) ; Koivisto, A.M. (Department of Neurology. Helsinki University Hospital) ; Kornhuber, Johannes (Friedrich-Alexander Universität Erlangen-Nürnberg) ; Kuulasmaa, Teemu (University of Eastern Finland) ; Lage, Carmen (University of California) ; Laske, Christoph (University of Tübingen. Hertie Institute for Clinical Brain Research and Department of Psychiatry and Psychotherapy.) ; Leinonen, Ville (Kuopio University Hospita. Department of Neurosurgery.) ; Lewczuk, Piotr (Medical University of Białystok. Department of Neurodegeneration Diagnostics.) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; López de Munain, Adolfo (University of The Basque Country) ; López-Garcia, Sara (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Maier, Wolfgang (University Hospital Bonn. Department of Neurodegenerative Diseases and Geriatric Psychiatry) ; Marquié, Marta (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Mol, Merel O. (Erasmus Medical Centre. Department of Neurology) ; Montrreal, Laura (Universitat Internacional de Catalunya. Ace Alzheimer Center Barcelona) ; Moreno, Fermin (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Moreno-Grau, Sonia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Nicolas, Gael (Normandie Univ. UNIROUEN. Department of Genetics and CNR-MAJ) ; Nöthen, Markus M. (Institute of Human Genetics. University of Bonn. School of Medicine and University Hospital Bonn) ; Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Pålhaugen, Lene (Akershus University Hospital. Department of Neurology) ; Papma, Janne M. (Erasmus MC University Medical Center. Department of Neurology and Alzheimer Center Erasmus MC) ; Pasquier, Florence (Université Lille) ; Perneczky, Robert (Imperial College London. Ageing Epidemiology Research Unit) ; Peters, Oliver (German Center for Neurodegenerative Diseases (DZNE)) ; Pijnenburg, Yolande A.L. (Amsterdam Neuroscience. Neurodegeneration) ; Popp, Julius (University Hospital of Lausanne. Department of Psychiatry) ; Posthuma, Danielle (Vrije Universiteit Amsterdam) ; Pozueta, Ana (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Priller, Josef (Technical University Munich. Department of Psychiatry and Psychotherapy) ; Puerta, Raquel (Universitat Internacional de Catalunya. Ace Alzheimer Center Barcelona) ; Quintela, Inés (Grupo de Medicina Xenómica. Centro Nacional de Genotipado (CEGEN-PRB3-ISCIII). Universidade de Santiago de Compostela) ; Ramakers, Inez (Maastricht University. Department of Psychiatry and Neuropsychologie) ; Rodríguez-Rodríguez, Eloy (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Rujescu, Dan (Medical University of Vienna. Department of Psychiatry and Psychotherapy) ; Saltvedt, Ingvild (University Hospital of Trondheim. Department of Geriatrics) ; Sánchez-Juan, Pascual (Alzheimer's Centre Reina Sofia-CIEN Foundation-ISCIII) ; Scheltens, Philip (Amsterdam Neuroscience. Neurodegeneration) ; Scherbaum, Norbert (University of Duisburg-Essen) ; Schmid, Matthias (University Hospital of Bonn. Institute of Medical Biometry) ; Schneider, Anja (German Center for Neurodegenerative Diseases (DZNE)) ; Selbæk, Geir (Oslo University Hospital.Department of Geriatric Medicine) ; Selnes, Per (Akershus University Hospital. Department of Neurology) ; Shadrin, Alexey (University of Oslo and Division of Mental Health. Institute of Clinical Medicine) ; Skoog, Ingmar (Sahlgrenska University Hospital (Suècia)) ; Soininen, Hilkka (University of Eastern Finland. Institute of Clinical Medicine.) ; Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Teipel, Stefan (Rostock University Medical Center. Department of Psychosomatic Medicine) ; Tijms, Betty M (Amsterdam Neuroscience. Neurodegeneration) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Van Broeckhoven, Christine (Neurodegenerative Brain Diseases Group. VIB Center for Molecular Neurology. VIB) ; Van Dongen, Jasper (University of Antwerp. Department of Biomedical Sciences) ; van Swieten, John C. (Erasmus MC University Medical Center) ; Vandenberghe, Rik (Leuven Brain Institute. Department of Neurosciences.) ; Vidal, Jean‑Sébastien (Université Paris Cité) ; Visser, Pieter J. (Division of Neurogeriatrics Karolinska Institutet. Department of Neurobiology) ; Vogelgsang, Jonathan (Harvard Medical School. Department of Psychiatry) ; Waern, Margda (Sahlgrenska University Hospital (Suècia)) ; Wagner, Michael (German Center for Neurodegenerative Diseases (DZNE)) ; Wiltfang, Jens W (Medical Science Department. iBiMED) ; Wittens, Mandy M.J. (Vrije Universiteit Brussel) ; Zetterberg, Henrik (Hong Kong Center for Neurodegenerative Diseases) ; Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; van Duijn, Cornelia M. (Nuffield Department of Population Health. Oxford University) ; Bjerke, Maria (Universitair Ziekenhuis Brussel) ; Engelborghs, Sebastiaan (Universitair Ziekenhuis Brussel. Department of Neurology) ; Jessen, Frank (University of Cologne) ; Teunissen, Charlotte E. (Vrije Universiteit Amsterdam) ; Pastor, Pau (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Hiltunen, Mikko (University of Eastern Finland. Institute of Biomedicine) ; Ingelsson, Martin (University of Toronto. Department of Medicine) ; Andreassen, Ole A (Oslo University Hospital (Oslo, Noruega)) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Sleegers, Kristel (University of Antwerp. Department of Biomedical Sciences) ; Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ramirez, Alfredo (Department of Psychiatry. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ; Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Lambert, Jean-Charles (Institut Pasteur de Lille) ; van der Flier, Wiesje M (Amsterdam Neuroscience. Neurodegeneration) ; Universitat Autònoma de Barcelona
Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer's disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, including 31 cohorts with a total of 13,116 individuals (discovery n = 8074; replication n = 5042 individuals). [...]
2022 - 10.1007/s00401-022-02454-z
Acta Neuropathologica, Vol. 144 Núm. 5 (november 2022) , p. 821-842  
4.
34 p, 16.2 MB Stroke genetics informs drug discovery and risk prediction across ancestries / Mishra, Aniket (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Malik, Rainer (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ; Hachiya, Tsuyoshi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Jürgenson, Tuuli (University of Tartu. Institute of Mathematics and Statistics) ; Namba, Shinichi (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ; Posner, Daniel C. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ; Kamanu, Frederick K. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ; Koido, Masaru (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ; Le Grand, Quentin (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Shi, Mingyang (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ; He, Yunye (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ; Georgakis, Marios K. (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ; Caro, Ilana (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Krebs, Kristi (University of Tartu. Estonian Genome Centre, Institute of Genomics) ; Liaw, Yi-Ching (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ; Vaura, Felix C. (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ; Lin, Kuang (University of Oxford. Nuffield Department of Population Health) ; Winsvold, Bendik Slagsvold (Oslo University Hospital (Oslo, Noruega)) ; Srinivasasainagendra, Vinodh (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ; Parodi, Livia (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ; Bae, Hee-Joon (Seoul National University Bundang Hospital, Seoul National University College of Medicine. Department of Neurology and Cerebrovascular Disease Center) ; Chauhan, Ganesh (Rajendra Institute of Medical Sciences) ; Chong, Michael R. (McMaster University. Department of Pathology and Molecular Medicine, Michael G. DeGroote School of Medicine) ; Tomppo, Liisa (Helsinki University Hospital) ; Akinyemi, Rufus (University of Ibadan. Neuroscience and Ageing Research Unit Institute for Advanced Medical Research and Training, College of Medicine) ; Roshchupkin, Gennady V. (Erasmus MC University Medical Center Rotterdam. Department of Radiology and Nuclear Medicine) ; Habib, Naomi (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ; Jee, Yon Ho (Harvard T. H. Chan School of Public Health. Department of Epidemiology) ; Thomassen, Jesper Qvist (Copenhagen University Hospital-Rigshospitalet. Department of Clinical Biochemistry) ; Abedi, Vida (The Pennsylvania State University. Department of Public Health Sciences, College of Medicine) ; Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ; Nygaard, Marianne (Odense University Hospital (Dinamarca)) ; Leonard, Hampton L. (Data Tecnica International) ; Yang, Chaojie (University of Virginia. Department of Biochemistry and Molecular Genetics) ; Yonova-Doing, Ekaterina (Novo Nordisk Research Centre Oxford. Department of Genetics) ; Knol, Maria J. (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ; Lewis, Adam J. (Vanderbilt University Medical Center. Department of Biomedical Informatics) ; Judy, Renae L. (University of Pennsylvania. Department of Surgery) ; Ago, Tetsuro (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ; Amouyel, Philippe (Institut Pasteur de Lille) ; Armstrong, Nicole D. (University of Alabama at Birmingham. Department of Epidemiology) ; Bakker, Mark K. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ; Bartz, Traci M. (University of Washington. Department of Biostatistics) ; Bennett, David A. (Rush University Medical Center. Rush Alzheimer's Disease Center) ; Bis, Joshua C (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ; Bordes, Constance (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Børte, Sigrid (Oslo University Hospital. Research and Communication Unit for Musculoskeletal Health (FORMI), Department of Research and Innovation, Division of Clinical Neuroscience) ; Cain, Anael (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ; Ridker, Paul M. (Harvard Medical School) ; Cho, Kelly (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ; Chen, Zhengming (University of Oxford. MRC Population Health Research Unit) ; Cruchaga, Carlos (Washington University School of Medicine. NeuroGenomics and Informatics Center) ; Cole, John W. (University of Maryland School of Medicine. Department of Neurology) ; De Jager, Philip L (Columbia University Medical Center. Center for Translational and Computational Neuroimmunology, Department of Neurology) ; de Cid, Rafael (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Endres, Matthias (partner site Berlin. German Centre for Cardiovascular Research (DZHK)) ; Ferreira, Leslie E. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ; Geerlings, Mirjam I. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ; Gasca, Natalie C. (University of Washington. Department of Biostatistics) ; Gudnason, Vilmundur (University of Iceland. Faculty of Medicine) ; Hata, Jun (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ; He, Jing (Vanderbilt University Medical Center. Department of Biomedical Informatics) ; Heath, Alicia K. (Imperial College London. Department of Epidemiology and Biostatistics, School of Public Health) ; Ho, Yuk-Lam (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ; Havulinna, Aki S (FIMM-HiLIFE. Institute for Molecular Medicine Finland) ; Hopewell, Jemma C. (University of Oxford. Clinical Trial Service and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health) ; Hyacinth, Hyacinth I. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ; Inouye, Michael (University of Cambridge. British Heart Foundation Centre of Research Excellence) ; Jacob, Mina A. (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ; Jeon, Christina E. (Los Angeles County Department of Public Health) ; Jern, Christina (Sahlgrenska University Hospital (Suècia)) ; Kamouchi, Masahiro (Kyushu University. Department of Health Care Administration and Management, Graduate School of Medical Sciences) ; Keene, Keith L. (East Carolina University. Department of Biology, Brody School of Medicine Center for Health Disparities) ; Kitazono, Takanari (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ; Kittner, Steven J. (VA Maryland Health Care System. Department of Neurology and Geriatric Research and Education Clinical Center) ; Konuma, Takahiro (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ; Kumar, Amit (Rajendra Institute of Medical Sciences) ; Lacaze, Paul (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ; Launer, Lenore Joy (National Institute on Aging, NIH. Intramural Research Program) ; Lee, Keon-Joo (Korea University Guro Hospital. Department of Neurology) ; Lepik, Kaido (University Center for Primary Care and Public Health, Lausanne, Switzerland) ; Li, Jiang (Geisinger Health System. Department of Molecular and Functional Genomics, Weis Center for Research) ; Li, Liming (Peking University Health Science Center. Department of Epidemiology and Biostatistics, School of Public Health) ; Manichaikul, Ani (University of Virginia. Center for Public Health Genomics) ; Markus, Hugh S. (University of Cambridge. Stroke Research Group, Department of Clinical Neurosciences) ; Marston, Nicholas A. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ; Meitinger, Thomas (German Research Center for Environmental Health. Institute of Human Genetics, Helmholtz Zentrum München) ; Mitchell, Braxton D. (Baltimore Veterans Administration Medical Center. Geriatrics Research and Education Clinical Center) ; Montellano, Felipe A. (University Hospital Würzburg. Department of Neurology) ; Morisaki, Takayuki (The University of Tokyo. Division of Molecular Pathology, Institute of Medical Sciences) ; Mosley, Thomas H. (University of Mississippi Medical Center. The MIND Center) ; Nalls, Mike A. (Data Tecnica International) ; Nordestgaard, Børge G. (University of Copenhagen. Department of Clinical Medicine) ; O'Donnell, Martin J. (NUI Galway. College of Medicine Nursing and Health Science) ; Okada, Yukinori (Osaka University. Center for Infectious Disease Education and Research (CiDER)) ; Onland-Moret, N. Charlotte (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ; Ovbiagele, Bruce (University of California, San Francisco. Weill Institute for Neurosciences) ; Peters, Annette (German Centre for Cardiovascular Research (DZHK), partner site Munich) ; Psaty, Bruce M. (University of Washington. Department of Health Systems and Population Health) ; Rich, Stephen S. (University of Virginia. Center for Public Health Genomics) ; Rosand, Jonathan (Massachusetts General Hospital. McCance Center for Brain Health) ; Sabatine, Marc S. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ; Sacco, Ralph L. (Evelyn F. McKnight Brain Institute) ; Saleheen, Danish (Columbia University. Division of Cardiology, Department of Medicine) ; Sandset, Else Charlotte (The Norwegian Air Ambulance Foundation. Research and Development) ; Salomaa, Veikko (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ; Sargurupremraj, Muralidharan (University of Texas Health Sciences Center. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ; Sasaki, Makoto (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Satizabal, Claudia L. (Framingham Heart Study) ; Schmidt, Carsten O. (University Medicine Greifswald, Institute for Community Medicine, SHIP/KEF) ; Shimizu, Atsushi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Smith, Nicholas L. (Seattle Epidemiologic Research and Information Center. Department of Veterans Affairs Office of Research and Development) ; Sloane, Kelly L. (University of Pennsylvania. Department of Neurology) ; Sutoh, Yoichi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Sun, Yan V. (Emory University Rollins School of Public Health. Department of Epidemiology) ; Tanno, Kozo (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Tiedt, Steffen (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ; Tatlisumak, Turgut (Sahlgrenska University Hospital (Suècia)) ; Torres-Aguila, Nuria P.. (Institut d'Investigació Biomèdica Sant Pau) ; Tiwari, Hemant K. (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ; Trégouët, David-Alexandre (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Trompet, Stella (Leiden University Medical Center. Department of Cardiology) ; Tuladhar, Anil Man (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ; Tybjærg-Hansen, Anne (University of Copenhagen. Department of Clinical Medicine) ; van Vugt, Marion (University Medical Center Utrecht, Utrecht University. Division Heart & Lungs, Department of Cardiology) ; Vibo, Riina (University of Tartu. Department of Neurology and Neurosurgery) ; Verma, Shefali S. (University of Pennsylvania. Department of Pathology and Laboratory Medicine) ; Wiggins, Kerri L. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ; Wennberg, Patrik (Umeå University. Department of Public Health and Clinical Medicine) ; Woo, Daniel (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ; Wilson, Peter W. F. (Emory University School of Medicine. Department of Medicine, Division of Cardiovascular Disease) ; Xu, Huichun (University of Maryland School of Medicine. Department of Medicine) ; Yang, Qiong (Boston University School of Public Health. Department of Biostatistics) ; Yoon, Kyungheon (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ; Millwood, Iona Y. (University of Oxford. MRC Population Health Research Unit) ; Gieger, Christian (German Research Center for Environmental Health. Research Unit Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München) ; Ninomiya, Toshiharu (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ; Grabe, Hans J. (German Center for Neurodegenerative Diseases (DZNE), site Rostock/Greifswald) ; Jukema, J. Wouter (LUMC. Einthoven Laboratory for Experimental Vascular Medicine) ; Rissanen, Ina L. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ; Strbian, Daniel (Helsinki University Hospital) ; Kim, Young Jin (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ; Chen, Pei-Hsin (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ; Mayerhofer, Ernst (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ; Howson, Joanna M. M. (Novo Nordisk Research Centre Oxford. Department of Genetics) ; Irvin, Marguerite R. (University of Alabama at Birmingham. Department of Epidemiology) ; Adams, Hieab (Universidad Adolfo Ibáñez. Latin American Brain Health (BrainLat)) ; Wassertheil-Smoller, Sylvia (Albert Einstein College of Medicine. Department of Epidemiology and Population Health) ; Christensen, Kaare (Odense University Hospital (Dinamarca)) ; Ikram, M. Arfan (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ; Rundek, Tatjana (Evelyn F. McKnight Brain Institute) ; Worrall, Bradford B. (University of Virginia. Department of Public Health Science) ; Lathrop, G. Mark (McGill Genome Centre) ; Riaz, Moeen (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ; Simonsick, Eleanor M. (National Institute on Aging. Longitudinal Studies Section, Translational Gerontology Branch) ; Kõrv, Janika (University of Tartu. Department of Neurology and Neurosurgery) ; França, Paulo H. C. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ; Zand, Ramin (The Pennsylvania State University. Department of Neurology, College of Medicine) ; Prasad, Kameshwar (Rajendra Institute of Medical Sciences) ; Frikke-Schmidt, Ruth (University of Copenhagen. Department of Clinical Medicine) ; de Leeuw, Frank-Erik (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ; Liman, Thomas (Carl von Ossietzky University of Oldenburg. Klinik für Neurologie) ; Haeusler, Karl Georg (University Hospital Würzburg. Department of Neurology) ; Ruigrok, Ynte M. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ; Heuschmann, Peter Ulrich (University Hospital Würzburg. Clinical Trial Center) ; Longstreth, W. T. (University of Washington. Department of Neurology) ; Jung, Keum Ji (Yonsei University. Institute for Health Promotion, Graduate School of Public Health) ; Bastarache, Lisa (Vanderbilt University Medical Center. Department of Biomedical Informatics) ; Paré, Guillaume (David Braley Cardiac, Vascular and Stroke Research Institute. Population Health Research Institute) ; Damrauer, Scott M. (Corporal Michael Crescenz VA Medical Center) ; Chasman, Daniel I. (Harvard Medical School) ; Rotter, Jerome I. (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics) ; Anderson, Christopher D. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Zwart, John-Anker (University of Oslo. Institute of Clinical Medicine, Faculty of Medicine) ; Niiranen, Teemu J. (Turku University Hospital. Division of Medicine) ; Fornage, Myriam (University of Texas Health Science Center at Houston. Human Genetics Center, School of Public Health) ; Liaw, Yung-Po (Chung Shan Medical University Hospital. Department of Medical Imaging) ; Seshadri, Sudha (Boston University School of Medicine. Department of Neurology) ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Walters, Robin G. (University of Oxford. MRC Population Health Research Unit) ; Ruff, Christian T. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ; Owolabi, Mayowa O. (University of Ibadan. Department of Medicine) ; Huffman, Jennifer E. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ; Milani, Lili (University of Tartu. Estonian Genome Centre, Institute of Genomics) ; Kamatani, Yoichiro (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ; Dichgans, Martin (German Center for Neurodegenerative Diseases (DZNE)) ; Debette, Stéphanie (CHU de Bordeaux. Department of Neurology, Institute for Neurodegenerative Diseases) ; Universitat Autònoma de Barcelona
Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry ,. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. [...]
2022 - 10.1038/s41586-022-05165-3
Nature, september 2022, p. 1-15  
5.
12 p, 1.1 MB A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype / Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ; Muiño, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Gallego-Fabrega, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Cullell, Natalia (Institut d'Investigació Biomèdica Sant Pau) ; Lledós, Miquel (Institut d'Investigació Biomèdica Sant Pau) ; Llucià-Carol, Laia (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Sobrino, Tomás (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Campos, Francisco (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Castillo, José (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Freijo, Marimar (Biocruces-Bizkaia Health Research Institute. Department of Neurology) ; Arenillas, Juan F (Hospital Universitario de Valladolid) ; Obach, Víctor (Hospital Clínic i Provincial de Barcelona) ; Álvarez Sabín, José (Hospital Universitari Vall d'Hebron) ; Molina, Carlos A. (Hospital Universitari Vall d'Hebron) ; Ribó, Marc (Hospital Universitari Vall d'Hebron) ; Jiménez-Conde, Jordi (Hospital del Mar (Barcelona, Catalunya)) ; Roquer, Jaume (Hospital del Mar (Barcelona, Catalunya)) ; Muñoz-Narbona, Lucia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; López-Cancio, Elena (Hospital Central de Asturias (HUCA)) ; Millán, Mònica (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Diaz-Navarro, Rosa (Institut d'Investigació Sanitària Illes Balears) ; Vives-Bauza, Cristòfol (Institut d'Investigació Sanitària Illes Balears) ; Serrano-Heras, Gemma (Complejo Hospitalario Universitario de Albacete) ; Segura, Tomás (Complejo Hospitalario Universitario de Albacete) ; Ibañez, Laura (Washington University School of Medicine. Department of Psychiatry) ; Heitsch, Laura (Washington University School of Medicine. Department of Neurology) ; Delgado, Pilar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Dhar, Rajat (Washington University School of Medicine. Department of Neurology.) ; Krupinski, Jerzy (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Delgado Mederos, Raquel (Institut d'Investigació Biomèdica Sant Pau) ; Prats-Sánchez, Luis Antonio (Institut d'Investigació Biomèdica Sant Pau) ; Camps-Renom, Pol (Institut d'Investigació Biomèdica Sant Pau) ; Blay, Natalia (Institut Germans Trias i Pujol) ; Sumoy, Lauro (Institut Germans Trias i Pujol) ; de Cid, Rafael (Institut Germans Trias i Pujol) ; Montaner, Joan (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Cruchaga, Carlos (Washington University in St. Louis. Neurogenomics and Informatics Center.) ; Lee, Jim-Moo (Washington University School of Medicine. Department of Neurology.) ; Martí-Fàbregas, Joan (Institut d'Investigació Biomèdica Sant Pau) ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Background: Occult atrial fibrillation (AF) is one of the major causes of embolic stroke of undetermined source (ESUS). Knowing the underlying etiology of an ESUS will reduce stroke recurrence and/or unnecessary use of anticoagulants. [...]
2022 - 10.3389/fcvm.2022.940696
Frontiers in Cardiovascular Medicine, Vol. 9 (august 2022) , p. 940696  
6.
19 p, 7.4 MB Rp11-362k2.2:Rp11-767i20.1 genetic variation is associated with post-reperfusion therapy parenchymal hematoma. a gwas meta-analysis / Muiño, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ; Carrera, C. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Llucià-Carol, Laia (Institut d'Investigació Biomèdica Sant Pau) ; Gallego-Fabrega, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Cullell, Natalia (Fundació MútuaTerrassa per la Docència i la Recerca) ; Lledós, Miquel (Institut d'Investigació Biomèdica Sant Pau) ; Castillo, J. (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Sobrino, T. (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Campos, Francisco (Instituto de Investigación Sanitaria de Santiago (IDIS)) ; Rodríguez-Castro, E. (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Millán, M. (Institut Germans Trias i Pujol) ; Muñoz-Narbona, L. (Institut Germans Trias i Pujol) ; Bustamante, Alejandro (Institut Germans Trias i Pujol) ; López-Cancio, E. (Hospital Universitario Central de Asturias) ; Ribó, M. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Álvarez Sabín, José (Hospital Universitari Vall d'Hebron) ; Jiménez-Conde, J. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Roquer, J. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Giralt Steinhauer, Eva (Institut Hospital del Mar d'Investigacions Mèdiques) ; Soriano-Tárraga, C. (Institut Hospital del Mar d'Investigacions Mèdiques) ; Vives-Bauza, C. (Instituto de Investigación Sanitaria de Palma) ; Díaz Navarro, R. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Tur, S. (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Obach, V. (Hospital Clínic i Provincial de Barcelona) ; Arenillas, Juan F.. (Hospital Clínico Universitario de Valladolid) ; Segura, T. (Complejo Hospitalario Universitario de Albacete) ; Serrano-Heras, G. (Complejo Hospitalario Universitario de Albacete) ; Martí-Fàbregas, Joan (Institut d'Investigació Biomèdica Sant Pau) ; Delgado Mederos, Raquel (Institut d'Investigació Biomèdica Sant Pau) ; Camps-Renom, Pol (Institut d'Investigació Biomèdica Sant Pau) ; Prats-Sánchez, Luis Antonio (Institut d'Investigació Biomèdica Sant Pau) ; Guisado-Alonso, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Guasch-Jiménez, Marina (Institut d'Investigació Biomèdica Sant Pau) ; Marín, Rebeca (Institut d'Investigació Biomèdica Sant Pau) ; Martínez-Domeño, Alejandro (Institut d'Investigació Biomèdica Sant Pau) ; Freijo-Guerrero, M.D.M. (Instituto de Investigación Sanitaria Biocruces Bizkaia) ; Moniche, F. (Instituto de Biomedicina de Sevilla) ; Cabezas, Juan Antonio (Instituto de Biomedicina de Sevilla) ; Castellanos, M. (Complejo Hospitalario Universitario de A Coruña) ; Krupinsky, J. (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Strbian, D. (Helsinki University Hospital (Finlàndia)) ; Tatlisumak, T. (Sahlgrenska University Hospital (Suècia)) ; Thijs, V. (Austin Health. Department of Neurology) ; Lemmens, R. (University Hospitals Leuven (Bèlgica)) ; Slowik, A. (Jagiellonian University Medical College) ; Pera, J. (Jagiellonian University Medical College) ; Heitsch, Laura (Washington University School of Medicine) ; Ibañez, Laura (Washington University School of Medicine) ; Cruchaga, Carlos (Washington University School of Medicine) ; Dhar, R. (Washington University School of Medicine) ; Lee, J.M. (Washington University School of Medicine) ; Montaner, J. (Instituto de Biomedicina de Sevilla) ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Stroke is one of the most common causes of death and disability. Reperfusion therapies are the only treatment available during the acute phase of stroke. Due to recent clinical trials, these therapies may increase their frequency of use by extending the time-window administration, which may lead to an increase in complications such as hemorrhagic transformation, with parenchymal hematoma (PH) being the more severe subtype, associated with higher mortality and disability rates. [...]
2021 - 10.3390/jcm10143137
Journal of clinical medicine, Vol. 10 Núm. 14 (february 2021) , p. 3137  
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1 p, 647.1 KB Publisher Correction : Stroke genetics informs drug discovery and risk prediction across ancestries / Mishra, Aniket (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Malik, Rainer (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ; Hachiya, Tsuyoshi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Jürgenson, Tuuli (University of Tartu. Institute of Mathematics and Statistics) ; Namba, Shinichi (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ; Posner, Daniel C. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ; Kamanu, Frederick K. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ; Koido, Masaru (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ; Le Grand, Quentin (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Shi, Mingyang (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ; He, Yunye (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ; Georgakis, Marios K. (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ; Caro, Ilana (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Krebs, Kristi (University of Tartu. Estonian Genome Centre, Institute of Genomics) ; Liaw, Yi-Ching (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ; Vaura, Felix C. (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ; Lin, Kuang (University of Oxford. Nuffield Department of Population Health) ; Winsvold, Bendik Slagsvold (Oslo University Hospital (Oslo, Noruega)) ; Srinivasasainagendra, Vinodh (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ; Parodi, Livia (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ; Bae, Hee-Joon (Seoul National University Bundang Hospital, Seoul National University College of Medicine. Department of Neurology and Cerebrovascular Disease Center) ; Chauhan, Ganesh (Rajendra Institute of Medical Sciences) ; Chong, Michael R. (McMaster University. Department of Pathology and Molecular Medicine, Michael G. DeGroote School of Medicine) ; Tomppo, Liisa (Helsinki University Hospital (Finlàndia)) ; Akinyemi, Rufus (University of Ibadan. Neuroscience and Ageing Research Unit Institute for Advanced Medical Research and Training, College of Medicine) ; Roshchupkin, Gennady V. (Erasmus MC University Medical Center Rotterdam. Department of Radiology and Nuclear Medicine) ; Habib, Naomi (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ; Jee, Yon Ho (Harvard T. H. Chan School of Public Health. Department of Epidemiology) ; Thomassen, Jesper Qvist (Copenhagen University Hospital-Rigshospitalet. Department of Clinical Biochemistry) ; Abedi, Vida (The Pennsylvania State University. Department of Public Health Sciences, College of Medicine) ; Cárcel-Márquez, Jara (Universitat Autònoma de Barcelona. Departament de Medicina) ; Nygaard, Marianne (Odense University Hospital (Dinamarca)) ; Leonard, Hampton L. (Data Tecnica International) ; Yang, Chaojie (University of Virginia. Department of Biochemistry and Molecular Genetics) ; Yonova-Doing, Ekaterina (Novo Nordisk Research Centre Oxford. Department of Genetics) ; Knol, Maria J. (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ; Lewis, Adam J. (Vanderbilt University Medical Center. Department of Biomedical Informatics) ; Judy, Renae L. (University of Pennsylvania. Department of Surgery) ; Ago, Tetsuro (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ; Amouyel, Philippe (Institut Pasteur de Lille) ; Armstrong, Nicole D. (University of Alabama at Birmingham. Department of Epidemiology) ; Bakker, Mark K. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ; Bartz, Traci M. (University of Washington. Department of Biostatistics) ; Bennett, David A. (Rush University Medical Center. Rush Alzheimer's Disease Center) ; Bis, Joshua C. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ; Bordes, Constance (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Børte, Sigrid (Oslo University Hospital. Research and Communication Unit for Musculoskeletal Health (FORMI), Department of Research and Innovation, Division of Clinical Neuroscience) ; Cain, Anael (The Hebrew University of Jerusalem. The Edmond and Lily Safra Center for Brain Sciences) ; Ridker, Paul M. (Harvard Medical School) ; Cho, Kelly (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ; Chen, Zhengming (University of Oxford. MRC Population Health Research Unit) ; Cruchaga, Carlos (Washington University School of Medicine. NeuroGenomics and Informatics Center) ; Cole, John W. (University of Maryland School of Medicine. Department of Neurology) ; De Jager, Philip L (Columbia University Medical Center. Center for Translational and Computational Neuroimmunology, Department of Neurology) ; de Cid, Rafael (Institut Germans Trias i Pujol) ; Endres, Matthias (partner site Berlin. German Centre for Cardiovascular Research (DZHK)) ; Ferreira, Leslie E. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ; Geerlings, Mirjam I. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ; Gasca, Natalie C. (University of Washington. Department of Biostatistics) ; Gudnason, Vilmundur (University of Iceland. Faculty of Medicine) ; Hata, Jun (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ; He, Jing (Vanderbilt University Medical Center. Department of Biomedical Informatics) ; Heath, Alicia K. (Imperial College London. Department of Epidemiology and Biostatistics, School of Public Health) ; Ho, Yuk-Lam (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ; Havulinna, Aki S. (FIMM-HiLIFE. Institute for Molecular Medicine Finland) ; Hopewell, Jemma C. (University of Oxford. Clinical Trial Service and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health) ; Hyacinth, Hyacinth I. (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ; Inouye, Michael (University of Cambridge. British Heart Foundation Centre of Research Excellence) ; Jacob, Mina A. (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ; Jeon, Christina E. (Los Angeles County Department of Public Health) ; Jern, Christina (Sahlgrenska University Hospital (Suècia)) ; Kamouchi, Masahiro (Kyushu University. Department of Health Care Administration and Management, Graduate School of Medical Sciences) ; Keene, Keith L. (East Carolina University. Department of Biology, Brody School of Medicine Center for Health Disparities) ; Kitazono, Takanari (Kyushu University. Department of Medicine and Clinical Science, Graduate School of Medical Sciences) ; Kittner, Steven J. (VA Maryland Health Care System. Department of Neurology and Geriatric Research and Education Clinical Center) ; Konuma, Takahiro (Osaka University Graduate School of Medicine. Department of Statistical Genetics) ; Kumar, Amit (Rajendra Institute of Medical Sciences) ; Lacaze, Paul (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ; Launer, Lenore Joy (National Institute on Aging, NIH. Intramural Research Program) ; Lee, Keon-Joo (Korea University Guro Hospital. Department of Neurology) ; Lepik, Kaido (University Center for Primary Care and Public Health, Lausanne, Switzerland) ; Li, Jiang (Geisinger Health System. Department of Molecular and Functional Genomics, Weis Center for Research) ; Li, Liming (Peking University Health Science Center. Department of Epidemiology and Biostatistics, School of Public Health) ; Manichaikul, Ani (University of Virginia. Center for Public Health Genomics) ; Markus, Hugh S. (University of Cambridge. Stroke Research Group, Department of Clinical Neurosciences) ; Marston, Nicholas A. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ; Meitinger, Thomas (German Research Center for Environmental Health. Institute of Human Genetics, Helmholtz Zentrum München) ; Mitchell, Braxton D. (Baltimore Veterans Administration Medical Center. Geriatrics Research and Education Clinical Center) ; Montellano, Felipe A. (University Hospital Würzburg. Department of Neurology) ; Morisaki, Takayuki (The University of Tokyo. Division of Molecular Pathology, Institute of Medical Sciences) ; Mosley, Thomas H. (University of Mississippi Medical Center. The MIND Center) ; Nalls, Mike A. (Data Tecnica International) ; Nordestgaard, Børge G. (University of Copenhagen. Department of Clinical Medicine) ; O'Donnell, Martin J. (NUI Galway. College of Medicine Nursing and Health Science) ; Okada, Yukinori (Osaka University. Center for Infectious Disease Education and Research (CiDER)) ; Onland-Moret, N. Charlotte (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ; Ovbiagele, Bruce (University of California, San Francisco. Weill Institute for Neurosciences) ; Peters, Annette (German Centre for Cardiovascular Research (DZHK), partner site Munich) ; Psaty, Bruce M. (University of Washington. Department of Health Systems and Population Health) ; Rich, Stephen S. (University of Virginia. Center for Public Health Genomics) ; Rosand, Jonathan (Massachusetts General Hospital. McCance Center for Brain Health) ; Sabatine, Marc S. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ; Sacco, Ralph L. (Evelyn F. McKnight Brain Institute) ; Saleheen, Danish (Columbia University. Division of Cardiology, Department of Medicine) ; Sandset, Else Charlotte (The Norwegian Air Ambulance Foundation. Research and Development) ; Salomaa, Veikko (Finnish Institute for Health and Welfare. Department of Public Health and Welfare) ; Sargurupremraj, Muralidharan (University of Texas Health Sciences Center. Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ; Sasaki, Makoto (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Satizabal, Claudia L. (Framingham Heart Study) ; Schmidt, Carsten O. (University Medicine Greifswald, Institute for Community Medicine, SHIP/KEF) ; Shimizu, Atsushi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Smith, Nicholas L. (Seattle Epidemiologic Research and Information Center. Department of Veterans Affairs Office of Research and Development) ; Sloane, Kelly L. (University of Pennsylvania. Department of Neurology) ; Sutoh, Yoichi (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Sun, Yan V. (Emory University Rollins School of Public Health. Department of Epidemiology) ; Tanno, Kozo (Iwate Medical University. Iwate Tohoku Medical Megabank Organization) ; Tiedt, Steffen (University Hospital, LMU Munich. Institute for Stroke and Dementia Research (ISD)) ; Tatlisumak, Turgut (Sahlgrenska University Hospital (Suècia)) ; Torres-Aguila, Nuria P.. (Institut d'Investigació Biomèdica Sant Pau) ; Tiwari, Hemant K. (University of Alabama at Birmingham. Department of Biostatistics, School of Public Health) ; Trégouët, David-Alexandre (University of Bordeaux, Inserm, UMR 1219. Bordeaux Population Health Research Center) ; Trompet, Stella (Leiden University Medical Center. Department of Cardiology) ; Tuladhar, Anil Man (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ; Tybjærg-Hansen, Anne (University of Copenhagen. Department of Clinical Medicine) ; van Vugt, Marion (University Medical Center Utrecht, Utrecht University. Division Heart & Lungs, Department of Cardiology) ; Vibo, Riina (University of Tartu. Department of Neurology and Neurosurgery) ; Verma, Shefali S. (University of Pennsylvania. Department of Pathology and Laboratory Medicine) ; Wiggins, Kerri L. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ; Wennberg, Patrik (Umeå University. Department of Public Health and Clinical Medicine) ; Woo, Daniel (University of Cincinnati College of Medicine. Department of Neurology and Rehabilitation Medicine) ; Wilson, Peter W. F. (Emory University School of Medicine. Department of Medicine, Division of Cardiovascular Disease) ; Xu, Huichun (University of Maryland School of Medicine. Department of Medicine) ; Yang, Qiong (Boston University School of Public Health. Department of Biostatistics) ; Yoon, Kyungheon (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ; Millwood, Iona Y. (University of Oxford. MRC Population Health Research Unit) ; Gieger, Christian (German Research Center for Environmental Health. Research Unit Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München) ; Ninomiya, Toshiharu (Kyushu University. Department of Epidemiology and Public Health, Graduate School of Medical Sciences) ; Grabe, Hans J. (German Center for Neurodegenerative Diseases (DZNE), site Rostock/Greifswald) ; Jukema, J. Wouter (LUMC. Einthoven Laboratory for Experimental Vascular Medicine) ; Rissanen, Ina L. (University Medical Center Utrecht, Utrecht University. Department of Epidemiology, Julius Center for Health Sciences and Primary Care) ; Strbian, Daniel (Helsinki University Hospital (Finlàndia)) ; Kim, Young Jin (National Institute of Health. Division of Genome Science, Department of Precision Medicine) ; Chen, Pei-Hsin (Chung Shan Medical University. Department of Public Health and Institute of Public Health) ; Mayerhofer, Ernst (Broad Institute of Harvard and the Massachusetts Institute of Technology. Program in Medical and Population Genetics) ; Howson, Joanna M. M. (Novo Nordisk Research Centre Oxford. Department of Genetics) ; Irvin, Marguerite R. (University of Alabama at Birmingham. Department of Epidemiology) ; Adams, Hieab (Universidad Adolfo Ibáñez) ; Wassertheil-Smoller, Sylvia (Albert Einstein College of Medicine. Department of Epidemiology and Population Health) ; Christensen, Kaare (Odense University Hospital (Dinamarca)) ; Ikram, M. Arfan (Erasmus MC University Medical Center Rotterdam. Department of Epidemiology) ; Rundek, Tatjana (Evelyn F. McKnight Brain Institute) ; Worrall, Bradford B. (University of Virginia. Department of Public Health Science) ; Lathrop, G. Mark (McGill Genome Centre) ; Riaz, Moeen (Monash University. Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine) ; Simonsick, Eleanor M. (National Institute on Aging. Longitudinal Studies Section, Translational Gerontology Branch) ; Kõrv, Janika (University of Tartu. Department of Neurology and Neurosurgery) ; França, Paulo H. C. (Post-Graduation Program on Health and Environment, Department of Medicine and Joinville Stroke Biobank, University of the Region of Joinville, Santa Catarina, Brazil) ; Zand, Ramin (The Pennsylvania State University. Department of Neurology, College of Medicine) ; Prasad, Kameshwar (Rajendra Institute of Medical Sciences) ; Frikke-Schmidt, Ruth (University of Copenhagen. Department of Clinical Medicine) ; de Leeuw, Frank-Erik (Radboud University Medical Center. Department of Neurology, Donders Center for Medical Neuroscience) ; Liman, Thomas (Carl von Ossietzky University of Oldenburg. Klinik für Neurologie) ; Haeusler, Karl Georg (University Hospital Würzburg. Department of Neurology) ; Ruigrok, Ynte M. (University Medical Center Utrecht, University Utrecht. UMC Utrecht Brain Center, Department of Neurology and Neurosurgery) ; Heuschmann, Peter Ulrich (University Hospital Würzburg. Clinical Trial Center) ; Longstreth, W. T. (University of Washington. Department of Neurology) ; Jung, Keum Ji (Yonsei University. Institute for Health Promotion, Graduate School of Public Health) ; Bastarache, Lisa (Vanderbilt University Medical Center. Department of Biomedical Informatics) ; Paré, Guillaume (David Braley Cardiac, Vascular and Stroke Research Institute. Population Health Research Institute) ; Damrauer, Scott M. (Corporal Michael Crescenz VA Medical Center) ; Chasman, Daniel I. (Harvard Medical School) ; Rotter, Jerome I. (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics) ; Anderson, Christopher D. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Zwart, John-Anker (University of Oslo. Institute of Clinical Medicine, Faculty of Medicine) ; Niiranen, Teemu J. (Turku University Hospital. Division of Medicine) ; Fornage, Myriam (University of Texas Health Science Center at Houston. Human Genetics Center, School of Public Health) ; Liaw, Yung-Po (Chung Shan Medical University Hospital. Department of Medical Imaging) ; Seshadri, Sudha (Boston University School of Medicine. Department of Neurology) ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Walters, Robin G. (University of Oxford. MRC Population Health Research Unit) ; Ruff, Christian T. (Harvard Medical School. Division of Cardiovascular Medicine, Brigham and Women's Hospital) ; Owolabi, Mayowa O. (University of Ibadan. Department of Medicine) ; Huffman, Jennifer E. (VA Boston Healthcare System. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC)) ; Milani, Lili (University of Tartu. Estonian Genome Centre, Institute of Genomics) ; Kamatani, Yoichiro (The University of Tokyo. Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences) ; Dichgans, Martin (German Center for Neurodegenerative Diseases (DZNE)) ; Debette, Stéphanie (CHU de Bordeaux. Department of Neurology, Institute for Neurodegenerative Disease) ; Universitat Autònoma de Barcelona
2022 - 10.1038/s41586-022-05492-5
Nature, Vol. 612 (november 2022) , p. E7  
8.
23 p, 7.9 MB Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease / Holstege, Henne (Delft Bioinformatics Lab, Delft University of Technology) ; Hulsman, Marc (Delft Bioinformatics Lab, Delft University of Technology) ; Charbonnier, Camille (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ; Grenier-Boley, Benjamin (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ; Quenez, Olivier (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ; Grozeva, Detelina (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ; van Rooij, Jeroen G. J. (Erasmus Medical Centre. Department of Internal Medicine) ; Sims, Rebecca (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ; Ahmad, Shahzad (Leiden Academic Centre for Drug Research) ; Amin, Najaf (Nuffield Department of Population Health Oxford University) ; Norsworthy, Penny J. (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Hummerich, Holger (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ; Kawalia, Amit (Faculty of Medicine and University Hospital Cologne, University of Cologne. 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(Case Western Reserve University. Department of Epidemiology and Biostatistics) ; Holmes, Clive (University of Southampton. Clinical and Experimental Science, Faculty of Medicine) ; Ikram, M. Arfan (Erasmus Medical Centre. Department of Epidemiology) ; Ikram, M. Kamran (Erasmus Medical Centre. Department of Epidemiology) ; Jansen, Iris E. (Vrije University. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ; Kraaij, Robert (Erasmus Medical Centre. Department of Internal Medicine) ; Lathrop, Marc (McGill University and Genome Quebec Innovation Centre) ; Lemstra, Afina W. (Amsterdam Neuroscience, Neurodegeneration) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Luckcuck, Lauren (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics) ; Mannens, Marcel M. A. M. (University of Amsterdam, Amsterdam Reproduction and Development Research Institute. Department of Human Genetics, Amsterdam UMC) ; Marshall, Rachel (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ; Martin, Eden R. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ; Masullo, Carlo (Institute of Neurology, Catholic University of the Sacred Heart) ; Mayeux, Richard (Columbia University. Gertrude H. Sergievsky Center) ; Mecocci, Patrizia (University of Perugia. Institute of Gerontology and Geriatrics, Department of Medicine and Surgery) ; Meggy, Alun (Cardiff University. UKDRI Cardiff, School of Medicine) ; Mol, Merel O. (Erasmus Medical Centre. Department of Neurology) ; Morgan, Kevin (University of Nottingham. Human Genetics, School of Life Sciences) ; Myers, Richard M. (HudsonAlpha Institute for Biotechnology) ; Nacmias, Benedetta (IRCCS Fondazione Don Carlo Gnocchi) ; Naj, Adam C. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ; Napolioni, Valerio (Genomic and Molecular Epidemiology Laboratory, School of Biosciences and Veterinary Medicine, University of Camerino) ; Pasquier, Florence (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, UMR1172, Resources and Research Memory Center (MRRC) of Distalz, Licend) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Pericak-Vance, Margaret A. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ; Raybould, Rachel (Cardiff University. UKDRI Cardiff, School of Medicine) ; Redon, Richard (Université de Nantes, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l'institut du Thorax) ; Reinders, Marcel J. T. (Delft Bioinformatics Lab, Delft University of Technology) ; Richard, Anne-Claire (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ; Riedel-Heller, Steffi G. (Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig) ; Rivadeneira, Fernando (Erasmus Medical Centre. Department of Internal Medicine) ; Rousseau, Stéphane (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ; Ryan, Natalie S. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ; Saad, Salha (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ; Sánchez-Juan, Pascual (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Schellenberg, Gerard D. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ; Scheltens, Philip (Amsterdam Neuroscience, Neurodegeneration) ; Schott, Jonathan M. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ; Seripa, Davide (Laboratory for Advanced Hematological Diagnostics, Department of Hematology and Stem Cell Transplant, Lecce, Italy) ; Seshadri, Sudha (Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX USA) ; Sie, Daoud (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ; Sistermans, Erik A. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ; Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi) ; van Spaendonk, Resie (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ; Spalletta, Gianfranco (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology) ; Tesi, Niccolo (Delft Bioinformatics Lab, Delft University of Technology) ; Tijms, Betty (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ; Uitterlinden, André G. (Erasmus Medical Centre. Department of Internal Medicine) ; van der Lee, Sven J. (Delft Bioinformatics Lab, Delft University of Technology) ; Visser, Pieter Jelle (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ; Wagner, Michael (German Center for Neurodegenerative Diseases) ; Wallon, David (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ; Wang, Li-San (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ; Zarea, Aline (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; van Swieten, John C. (Erasmus Medical Centre. Department of Neurology) ; Greicius, Michael D. (Stanford University. Department of Neurology and Neurological Sciences) ; Yokoyama, Jennifer S. (University of California. Memory and Aging Center, Department of Neurology) ; Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ; Hardy, John (University College London Institute of Neurology. Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience) ; Ramirez, Alfredo (University of Cologne. Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases) ; Mead, Simon (University College London. Institute of Prion Diseases) ; van der Flier, Wiesje M. (Amsterdam Neuroscience, Neurodegeneration) ; van Duijn, Cornelia M. (Nuffield Department of Population Health Oxford University) ; Williams, Julie (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ; Nicolas, Gaël (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ; Bellenguez, Céline (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ; Lambert, Jean-Charles (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ; Universitat Autònoma de Barcelona
Alzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70% . The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants . [...]
2022 - 10.1038/s41588-022-01208-7
Nature genetics, Vol. 54 (november 2022) , p. 1786-1794  
9.
17 p, 693.0 KB Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke / Jaworek, Thomas ; Xu, Huichun ; Gaynor, Brady ; Cole, John W. ; Rannikmae, Kristiina ; Stanne, Tara M. ; Tomppo, Liisa ; Abedi, Vida ; Amouyel, Philippe ; Armstrong, Nicole D. ; Attia, John ; Bell, Steven ; Benavente, Oscar R. ; Boncoraglio, Giorgio B. ; Butterworth, Adam ; Cárcel-Márquez, Jara (Institut d'Investigació Biomèdica Sant Pau) ; Chen, Zhengming ; Chong, Michael ; Cruchaga, Carlos ; Cushman, Mary ; Danesh, John ; Debette, Stéphanie ; Duggan, David J. ; Durda, Jon Peter ; Engstrom, Gunnar ; Enzinger, Chris ; Faul, Jessica D. ; Fecteau, Natalie S. ; Fernandez-Cadenas, Israel (Institut d'Investigació Biomèdica Sant Pau) ; Gieger, Christian ; Giese, Anne-Katrin ; Grewal, Raji P. ; Grittner, Ulrike ; Havulinna, Aki S. ; Heitsch, Laura ; Hochberg, Marc C. ; Holliday, Elizabeth ; Hu, Jie ; Ilinca, Andreea ; Irvin, Marguerite R. ; Jackson, Rebecca D. ; Jacob, Mina A. ; Rabionet, Raquel ; Jimenez-Conde, Jordi (Institut Hospital del Mar d'Investigacions Mèdiques) ; Johnson, Julie A. ; Kamatani, Yoichiro ; Kardia, Sharon L.R. ; Koido, Masaru ; Kubo, Michiaki ; Lange, Leslie ; Lee, Jin-Moo ; Lemmens, Robin ; Levi, Christopher R. ; Li, Jiang ; Li, Liming ; Lin, Kuang ; Lopez, Haley ; Luke, Sothear ; Maguire, Jane ; McArdle, Patrick F. ; McDonough, Caitrin W. ; Meschia, James F. (Mayo Clinic (Jacksonville, Estats Units d'Amèrica)) ; Metso, Tiina ; Müller-Nurasyid, Martina ; Dichgans, Martin ; O'Donnell, Martin ; Peddareddygari, Leema R. ; Pera, Joanna ; Perry, James A. ; Peters, Annette ; Putaala, Jukka ; Ray, Debashree ; Rexrode, Kathryn ; Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rosand, Jonathan ; Rothwell, Peter M. ; Rundek, Tatjana ; Ryan, Kathleen A. ; Sacco, Ralph L. ; Salomaa, Veikko ; Sánchez-Mora, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Schmidt, Reinhold ; Sharma, Pankaj ; Slowik, Agnieszka ; Smith, Jennifer A. ; Smith, Nicholas L. ; Wassertheil-Smoller, Sylvia ; Söderholm, Martin ; Stine, O. Colin ; Strbian, Daniel ; Sudlow, Cathie L.M. ; Tatlisumak, Turgut ; Terao, Chikashi ; Thijs, Vincent ; Torres-Aguila, Nuria P.. ; Trégouët, David-Alexandre ; Tuladhar, Anil M. ; Veldink, Jan ; Walters, Robin G. ; Weir, David R. ; Woo, Daniel ; Worrall, Bradford B. ; Hong, Charles C. ; Ross, Owen A. ; Zand, Ramin ; de Leeuw, Frank-Erik ; Lindgren, Arne G. ; Paré, Guillaume ; Anderson, Christopher D. ; Markus, Hugh S. ; Jern, Christina ; Malik, Rainer ; Dichgans, Martin ; Mitchell, Braxton D. ; Kittner, Steven J. ; Universitat Autònoma de Barcelona
Current genome-wide association studies of ischemic stroke have focused primarily on late-onset disease. As a complement to these studies, we sought to identify the contribution of common genetic variants to risk of early-onset ischemic stroke. [...]
2022 - 10.1212/WNL.0000000000201006
Neurology, Vol. 99 (october 2022) , p. e1738-e1754  
10.
13 p, 1.3 MB Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease / Escott-Price, Valentina (Clinical Cardiff University) ; Bellenguez, Céline (Institut Pasteur de Lille, Lille, France) ; Wang, Li-San (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Choi, Seung-Hoan (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Harold, Denise (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Jones, Lesley (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Holmans, Peter (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Gerrish, Amy (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Vedernikov, Alexey (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Richards, Alexander (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; DeStefano, Anita L. (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Lambert, Jean-Charles (Institut Pasteur de Lille, Lille, France) ; Ibrahim-Verbaas, Carla A. (Department of Epidemiology and Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Naj, Adam C. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ; Sims, Rebecca (Cardiff University. Institute of Psychological Medicine and Clinical Neurosciences) ; Jun, Gyungah (Department of Ophthalmology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Bis, Joshua C. (Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, United States of America) ; Beecham, Gary W. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Grenier-Boley, Benjamin (Institut Pasteur de Lille, Lille, France) ; Russo, Giancarlo (Functional Genomics Center Zurich, ETH/University of Zurich, Zurich, Switzerland) ; Thornton-Wells, Tricia A. (Vanderbilt University (Nashville, Estats Units d'Amèrica)) ; Denning, Nicola (Cardiff University) ; Smith, Albert V. (Icelandic Heart Association, Kopavogur, Iceland) ; Chouraki, Vincent (Boston University School of Medicine) ; Thomas, Charlene (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Ikram, M. Arfan (Netherlands Consortium for Healthy Aging, Leiden, The Netherlands) ; Zelenika, Diana (Centre National de Genotypage, Institut Genomique, Commissariat à l'énergie Atomique, Evry, France) ; Vardarajan, Badri N. (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Kamatani, Yoichiro (Fondation Jean Dausset- CEPH, Paris, France) ; Lin, Chiao-Feng (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Schmidt, Helena (Institute for Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria) ; Kunkle, Brian (The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America) ; Dunstan, Melanie L. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Vronskaya, Maria (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Johnson, Andrew D. (NHLBI Cardiovascular Epidemiology and Human Genomics Branch, The Framingham Heart Study, Framingham, Massachusetts, United States of America) ; Ruiz, Agustin (Fundació ACE) ; Bihoreau, Marie-Thérèse (Centre National de Genotypage, Institut Genomique, Commissariat à l'énergie Atomique, Evry, France) ; Reitz, Christiane (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Pasquier, Florence (CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Hollingworth, Paul (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Hanon, Olivier (University Paris Descartes, Sorbonne Paris V, Broca Hospital, Geriatrics department, Paris, France) ; Fitzpatrick, Annette L. (Departments of Epidemiology and Global Health, University of Washington, Seattle, Washington, United States of America) ; Buxbaum, Joseph D (Icahn School of Medicine at Mount Sinai) ; Campion, Dominique (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Crane, Paul K. (Department of Medicine, University of Washington, Seattle, Washington, United States of America) ; Baldwin, Clinton (Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Becker, Tim (German Center for Neurodegenerative Diseases (DZNE), Bonn, and Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany) ; Gudnason, Vilmundur (Icelandic Heart Association, Kopavogur, Iceland) ; Cruchaga, Carlos (Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, Missouri, United States of America) ; Craig, David (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Amin, Najaf (Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Berr, Claudine (Université Montpellier, INSERM, Institute for Neurosciences of Montpellier) ; Lopez, Oscar L. (Departments of Neurology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America) ; De Jager, Philip L. (Program in Medical and Population Genetics, Broad Institute, Boston, Massachusetts, United States of America) ; Deramecourt, Vincent (CNR-MAJ, Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Johnston, Janet A. (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Evans, Denis (Rush Institute for Healthy Aging, Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, United States of America) ; Lovestone, Simon (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Letenneur, Luc (Inserm U897, Victor Segalen University, F-33076, Bordeaux, France) ; Hernández, Isabel (Fundació ACE) ; Rubinsztein, David C. (Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom) ; Eiriksdottir, Gudny (Icelandic Heart Association, Kopavogur, Iceland) ; Sleegers, Kristel (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Goate, Alison M. (Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, Missouri, United States of America) ; Fiévet, Nathalie (Institut Pasteur de Lille, Lille, France) ; Huentelman, Matthew J. (Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States of America) ; Gill, Michael (Discipline of Psychiatry, Trinity College, Dublin, Ireland) ; Brown, Kristelle (Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom) ; Kamboh, M. Ilyas (Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America) ; Keller, Lina (Aging Reasearch Center, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet and Stockholm University, Stockholm, Sweden) ; Barberger-Gateau, Pascale (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; McGuinness, Bernadette (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Larson, Eric B. (Group Health Research Institute, Group Health, Seattle, Washington, United States of America) ; Myers, Amanda J. (Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, Florida, United States of America) ; Dufouil, Carole (Inserm U897, Victor Segalen University, F-33076, Bordeaux, France) ; Todd, Stephen (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Wallon, David (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Love, Seth (University of Bristol Institute of Clinical Neurosciences, School of Clinical Sciences, Frenchay Hospital, Bristol, United Kingdom) ; Rogaeva, Ekaterina (Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Ontario, Canada) ; Gallacher, John (Institute of Primary Care and Public Health, Cardiff University, Neuadd Meirionnydd, University Hospital of Wales, Heath Park, Cardiff, United Kingdom) ; St George Hyslop, Peter (Cambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom) ; Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Lleo, Alberto (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Bayer, Anthony (Institute of Primary Care and Public Health, Cardiff University, Neuadd Meirionnydd, University Hospital of Wales, Heath Park, Cardiff, United Kingdom) ; Tsuang, Debby W. (Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, United States of America) ; Yu, Lei (Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, United States of America) ; Tsolaki, Magda (3rd Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece) ; Bossù, Paola (Clinical and Behavioral Neurology, Fondazione Santa Lucia, Roma, Italy) ; Spalletta, Gianfranco (Clinical and Behavioral Neurology, Fondazione Santa Lucia, Roma, Italy) ; Proitsi, Petra (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Collinge, John (MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom) ; Sorbi, Sandro (Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Florence, Italy) ; Garcia, Florentino Sanchez (Hospital Universitario de Gran Canaria Dr. Negrín) ; Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ; Hardy, John (Department of Molecular Neuroscience and Reta Lilla Weston Laboratories, Institute of Neurology, London, United Kingdom) ; Naranjo, Maria Candida Deniz (Hospital Universitario de Gran Canaria Dr. Negrín) ; Bosco, Paolo (IRCCS Associazione Oasi Maria SS, Troina, Italy) ; Clarke, Robert (Oxford Healthy Aging Project (OHAP), Clinical Trial Service Unit, University of Oxford, Oxford, United Kingdom) ; Brayne, Carol (Cognitive Function and Ageing Study (CFAS), Institute of Public Health, University of Cambridge, Cambridge, United Kingdom) ; Galimberti, Daniela (University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Scarpini, Elio (University of Milan, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy) ; Bonuccelli, Ubaldo (Neurological Clinic, University of Pisa, Pisa, Italy) ; Mancuso, Michelangelo (Neurological Clinic, University of Pisa, Pisa, Italy) ; Siciliano, Gabriele (Neurological Clinic, University of Pisa, Pisa, Italy) ; Moebus, Susanne (Urban Epidemiology, Institute for Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University Duisburg-Essen, Essen, Germany) ; Mecocci, Patrizia (University of Perugia (Itàlia)) ; Zompo, Maria Del (Section of Neuroscience and Clinical Pharmacology, Department of Biomedical Sciences, University of Cagliari, Cagliari, Italy) ; Maier, Wolfgang (Department of Psychiatry and Psychotherapy, University of Bonn, Germany and German Center for Neurodegenerative Diseases (DZNE, Bonn), Bonn, Germany) ; Hampel, Harald (Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany) ; Pilotto, Alberto (Gerontology and Geriatrics Research Laboratory, I.R.C.C.S. Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy) ; Frank-García, Ana (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Panza, F. (University of Bari Aldo Moro) ; Solfrizzi, Vincenzo (Department of Geriatrics,Center for Aging Brain,University of Bari, Bari, Italy) ; Caffarra, Paolo (Center for Cognitive Disorders AUSL, Parma, Italy) ; Nacmias, Benedetta (Centro di Ricerca, Trasferimento e Alta Formazione DENOTHE, University of Florence, Florence, Italy) ; Perry, William (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Mayhaus, Manuel (Department Of Psychiatry, University Hospital, Saarland, Germany) ; Lannfelt, Lars (Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden) ; Hakonarson, Hakon (Children's Hospital of Philadelphia (Pennsilvània)) ; Pichler, Sabrina (Department Of Psychiatry, University Hospital, Saarland, Germany) ; Carrasquillo, Minerva M. (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Ingelsson, Martin (Department of Public Health/Geriatrics, Uppsala University, Uppsala, Sweden) ; Beekly, Duane (National Alzheimer's Coordinating Center, University of Washington, Seattle, Washington, United States of America) ; Alvarez, Victoria (Genetica molecular-Huca-Oviedo, Oviedo, Spain) ; Zou, Fanggeng (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Valladares, Otto (University of Pennsylvania Perelman School of Medicine) ; Younkin, Steven G. (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America) ; Coto, Eliecer (Genetica molecular-Huca-Oviedo, Oviedo, Spain) ; Hamilton-Nelson, Kara L. (The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America) ; Gu, Wei (Department of Psychiatry, University Hospital, Saarland, Germany) ; Razquin, Cristina (Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra School of Medicine, Pamplona, Spain) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Mateo, Ignacio (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Owen, Michael J. (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Faber, Kelley M. (Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America) ; Jonsson, Palmi V. (Landspitali University Hospital (Reykjavík, Islàndia)) ; Combarros, Onofre (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; O'Donovan, Michael C. (Cardiff University) ; Cantwell, Laura B. (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Soininen, Hilkka (Kuopio University Hospital ( Finlàndia)) ; Blacker, Deborah (Massachusetts General Hospital (Boston)) ; Mead, Simon (University College London. Institute of Neurology) ; Mosley, Thomas H. (Department of Medicine (Geriatrics), University of Mississippi Medical Center, Jackson, Mississippi, United States of America) ; Bennett, David A. (Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, United States of America) ; Harris, Tamara B. (Laboratory of Epidemiology, Demography, and Biometry, National Institute of Health, Bethesda, Maryland, United States of America) ; Fratiglioni, Laura (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Holmes, Clive (Division of Clinical Neurosciences, School of Medicine, University of Southampton, Southampton, United Kingdom) ; de Bruijn, Renee F. A. G. (Departments of Neurology and Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands) ; Passmore, Peter (Queen's University Belfast. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences) ; Montine, Thomas J. (Department of Pathology, University of Washington, Seattle, Washington, United States of America) ; Bettens, Karolien (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Rotter, Jerome I. (Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California, United States of America) ; Brice, Alexis (AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France) ; Morgan, Kevin (Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, United Kingdom) ; Foroud, Tatiana M. (Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America) ; Kukull, Walter A. (Department of Epidemiology, University of Washington, Seattle, Washington, United States of America) ; Hannequin, Didier (CNR-MAJ, Inserm U1079, Rouen University Hospital, 76031 France, Rouen, France) ; Powell, John F. (King's College London, Institute of Psychiatry, Department of Neuroscience, De Crespigny Park, Denmark Hill, London, United Kingom) ; Nalls, Michael A.. (Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America) ; Ritchie, Karen (Imperial College, London, United Kingdom) ; Lunetta, Kathryn L. (Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, United States of America) ; Kauwe, John S. K. (Department of Biology, Brigham Young University, Provo, Utah, United States of America) ; Boerwinkle, Eric (Human Genetics Center and Div. of Epidemiology, University of Texas Health Sciences Center at Houston, Houston, Texas, United States of America) ; Riemenschneider, Matthias (Department of Psychiatry, University Hospital, Saarland, Germany) ; Boada, Mercè (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hiltunen, Mikko (Kuopio University Hospital ( Finlàndia)) ; Martin, Eden R. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Schmidt, Reinhold (Department of Neurology, Medical University Graz, Graz, Austria) ; Rujescu, Dan (Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany) ; Dartigues, Jean-François (Centre de Mémoire de Ressources et de Recherche de Bordeaux, CHU de Bordeaux, Bordeaux, France) ; Mayeux, Richard (Gertrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, New York, United States of America) ; Tzourio, Christophe (Inserm U708, Victor Segalen University, Bordeaux, France) ; Hofman, Albert (Netherlands Consortium for Healthy Aging, Leiden, The Netherlands) ; Nöthen, Markus M. (University of Bonn. Life and Brain Center) ; Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Department of Neurobiology, Care Sciences and Society) ; Psaty, Bruce M. (Group Health Research Institute, Group Health Cooperative, Seattle, Washington, United States of America) ; Haines, Jonathan L. (Department of Epidemiology & Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America) ; Lathrop, Mark (McGill University and Génome Québec Innovation Centre, Montreal, Canada) ; Pericak-Vance, Margaret A. (Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, United States of America) ; Launer, Lenore J. (Laboratory of Epidemiology, Demography, and Biometry, National Institute of Health, Bethesda, Maryland, United States of America) ; Van Broeckhoven, Christine (Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium) ; Farrer, Lindsay A. (Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; van Duijn, Cornelia M. (Center for Medical Systems Biology, Leiden, The Netherlands) ; Ramirez, Alfredo (Department of Psychiatry and Psychotherapy and Institute of Human Genetics, University of Bonn, Bonn, Germany) ; Seshadri, Sudha (The Framingham Heart Study, Framingham, Massachusetts, United States of America) ; Schellenberg, Gerard D. (Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Amouyel, Philippe (Centre Hospitalier Régional Universitaire de Lille, Lille, France) ; Williams, Julie (Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom) ; Universitat Autònoma de Barcelona
Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. [...]
2014 - 10.1371/journal.pone.0094661
PloS one, Vol. 9 (june 2014)  

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