Accès ouvert déclaré 2020 article

Cerebral small vessel disease genomics and its implications across the lifespan

Muralidharan Sargurupremraj, Hideaki Suzuki, Xueqiu Jian, Chloé Sarnowski, Tavia E. Evans, Joshua C. Bis, Gudny Eiriksdottir, Saori Sakaue, Natalie Terzikhan, Mohamad Habes, Wei Zhao, Nicola J. Armstrong, Edith Hofer, Lisa R. Yanek, Saskia P. Hagenaars, Erik B. van den Akker, Rebekah McWhirter, Stella Trompet, Aniket Mishra, Yasaman Saba, Claudia L. Satizábal, Grégory Beaudet, Laurent Petit, Ami Tsuchida, Laure Zago, Sabrina Schilling, Sigurður Sigurðsson, Rebecca F. Gottesman, Cora E. Lewis, Neelum T. Aggarwal, Oscar L. López, Jennifer A. Smith, Maria C. Valdés Hernández, Jeroen van der Grond, Margaret J. Wright, Maria J. Knol, Marcus Dörr, Russell Thomson, Constance Bordes, Quentin Le Grand, Marie‐Gabrielle Duperron, Albert V. Smith, David S. Knopman, Pamela J. Schreiner, Denis A. Evans, Jerome I. Rotter, Alexa Beiser, Susana Muñoz Maniega, Marian Beekman, Julian N. Trollor, David J. Stott, Meike W. Vernooij, Katharina Wittfeld, Wiro J. Niessen, Aïcha Soumaré, Eric Boerwinkle, Stephen Sidney, Stephen T. Turner, Gail Davies, Anbupalam Thalamuthu, Uwe Völker, Mark A. van Buchem, R. Nick Bryan, Josée Dupuis, Mark E. Bastin, David Ames, Alexander Teumer, Philippe Amouyel, John B. Kwok, Robin Bülow, Ian J. Deary, Peter R. Schofield, Henry Brodaty, Jiyang Jiang, Yasuharu Tabara, Kazuya Setoh, Susumu Miyamoto, Kazumichi Yoshida, Manabu Nagata, Yoichiro Kamatani, Fumihiko Matsuda, Bruce M. Psaty, David A. Bennett, Philip L. De Jager, Thomas H. Mosley, Perminder S. Sachdev, Reinhold Schmidt, Helen R. Warren, Εvangelos Εvangelou, David‐Alexandre Trégouët, Mariza de Andrade, Saonli Basu, Claudine Berr, Jennifer A. Brody, Daniel I. Chasman, Jean‐François Dartigues, Aaron R. Folsom, Marine Germain, Hugoline G. de Haan, John A. Heit, Jeanine Houwing-Duitermaat, Christopher Kabrhel, Peter Kraft, Grégoire Le Gal, Sara Lindström, Ramin Monajemi, Pierre‐Emmanuel Morange, P.H. Reitsma, Lynda Rose, Frits R. Rosendaal, Noémie Saut, P. Eline Slagboom, David M. Smadja, Nicholas L. Smith, Pierre Suchon, Weihong Tang, Kent D. Taylor, Christophe Tzourio, Marieke C. Visser, Astrid van Hylckama Vlieg, Lu-Chen Weng, Kerri L. Wiggins, Padhraig Gormley, Verneri Anttila, Bendik S. Winsvold, Priit Palta, Tonu Esko, Tune H. Pers, Kai-How Farh, Ester Cuenca-León, Mikko Muona, Nicholas A. Furlotte, Tobias Kurth, Andrés Ingason, George McMahon, Lannie Ligthart, Gisela M. Terwindt, Mikko Kallela, Tobias Freilinger, Caroline Ran, Anine H Stam, Stacy Steinberg, Guntram Borck, Markku Koiranen, Lydia Quaye, Hieab H.H. Adams, Terho Lehtimäki, Antti‐Pekka Sarin, Juho Wedenoja, David A. Hinds, Julie E. Buring, Markus Schürks, Maria Gudlaug Hrafnsdottir, Hreinn Stefánsson, Susan M. Ring, Jouke‐Jan Hottenga, Brenda W. J. H. Penninx, Ville Artto, Mari Kaunisto, Salli Vepsäläinen, Rainer Malik, Andrew C. Heath, Pamela A. F. Madden, Nicholas G. Martin, Grant W. Montgomery, Mitja Kurki, Mart Kals, Reedik Mägi, Kalle Pärn, Eija Hämäläinen, Hailiang Huang, Andrea Byrnes, Lude Franke, Jie Huang, Evie Stergiakouli, Cynthia Sandor, Caleb Webber, M. Zameel Cader, Bertram Müller‐Myhsok, Stefan Schreiber, Thomas Meitinger, Johan G. Eriksson, Veikko Salomaa, Kauko Heikkilä, Elizabeth Loehrer, Andre G. Uitterlinden, Albert Hofman, Cornelia M. van Duijn, Lynn Cherkas, Linda M. Pedersen, Audun Stubhaug, Christopher Sivert Nielsen, Minna Männikkö, Evelin Mihailov, Lili Milani, Hartmut Göbel, Ann-Louise Esserlind, Anne Francke Christensen, Thomas Folkmann Hansen, Thomas Werge, Jaakko Kaprio, Arpo Aromaa, Olli T. Raitakari, M. Arfan Ikram, Tim D. Spector, Marjo-Riitta Järvelin, Andres Metspalu, Christian Kubisch, David P. Strachan, Michel D. Ferrari, Andrea Carmine Belin, Martin Dichgans, Maija Wessman, Arn M. J. M. van den Maagdenberg, John‐Anker Zwart, George Davey Smith, Kari Stefansson, Nicholas Eriksson, Mark J. Daly, Benjamin M. Neale, Jes Olesen, Dale R. Nyholt, Aarno Palotie, Wei Wen, Charles DeCarli, Velandai Srikanth, J. Wouter Jukema, Sharon L. R. Kardia, Yukinori Okada, Bernard Mazoyer, Joanna M. Wardlaw, Paul Nyquist, Karen A. Mather, Hans J. Grabe, Helena Schmidt, Vilmundur Guðnason, W.T. Longstreth, Lenore J. Launer, Mark Lathrop, Sudha Seshadri, Paul M. Matthews, Myriam Fornage, Stéphanie Debette

211Citations signalées, ce qui n’est pas une note de qualité

157Institutions déclarées

17Pays d’affiliation déclarés

Rattachement africain : fr, jp, gb, us, nl, is, de, au, at, gr, ca, no, fi, ee, dk, es, se. Niveau de preuve : code pays fourni par la source.

Le résumé fourni par la source

White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.

Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: Cerebral small vessel disease genomics and its implications across the lifespan
Date Crossref: 08/12/2020
Éditeur: Springer Science and Business Media LLC
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Les institutions déclarées

Université de Bordeaux Inserm Bordeaux Population Health Tohoku University Tohoku University Hospital Tohoku Medical Megabank Organization Imperial College London The University of Texas at San Antonio Health Science Center Institute for Neurodegenerative Disorders The University of Texas Health Science Center at Houston Boston University Erasmus MC Erasmus University Rotterdam University of Washington Icelandic Heart Association RIKEN Center for Integrative Medical Sciences The University of Tokyo The University of Osaka Universitätsmedizin Greifswald University of Pennsylvania University of Michigan Murdoch University Medical University of Graz Johns Hopkins University Johns Hopkins Medicine King's College London University of Edinburgh Leiden University Leiden University Medical Center University of Tasmania Framingham Heart Study Institut des Maladies Neurodégénératives University of Alabama at Birmingham Rush University Medical Center University of Pittsburgh The University of Queensland German Centre for Cardiovascular Research Western Sydney University Mayo Clinic in Arizona University of Minnesota The Lundquist Institute Harbor–UCLA Medical Center UNSW Sydney Centre for Healthy Brain Ageing University of Glasgow German Center for Neurodegenerative Diseases Delft University of Technology Kaiser Permanente Mayo Clinic The University of Texas at Austin The Royal Melbourne Hospital The University of Melbourne National Ageing Research Institute St George Hospital Université de Lille Institut Pasteur de Lille Centre Hospitalier Universitaire de Lille The University of Sydney Neuroscience Research Australia Dementia Collaborative Research Centres Kyoto University Kaiser Permanente Washington Health Research Institute Broad Institute Columbia University Irving Medical Center University of Mississippi Medical Center Prince of Wales Hospital Queen Mary University of London National Institute for Health and Care Research William Harvey Research Institute University of Ioannina Université de Montpellier Brigham and Women's Hospital Harvard University Massachusetts General Hospital University of Ottawa Université de Bretagne Occidentale Ottawa Hospital Laboratoire des Sciences et Techniques de l’Information de la Communication et de la Connaissance Aix-Marseille Université Hôpital de la Timone Nutrition, Obésité et Risque Thrombotique Délégation Paris 5 Université Paris Cité Sorbonne Paris Cité Assistance Publique – Hôpitaux de Paris Hôpital Européen Georges-Pompidou Hôpital Européen Group Health Cooperative VA Office of Research and Development UCLA Medical Center Centre Hospitalier Universitaire de Bordeaux Wellcome Sanger Institute Oslo University Hospital University of Oslo University of Helsinki Institute for Molecular Medicine Finland Boston Children's Hospital University of Tartu Statens Serum Institut University of Copenhagen Novo Nordisk Foundation Illumina (United States)Vall d'Hebron Institut de Recerca Vall d'Hebron Hospital Universitari Folkhälsans Forskningscentrum 23andMe (United States)deCODE Genetics (Iceland)University of Bristol Medical Research Council Vrije Universiteit Amsterdam Helsinki University Hospital Hertie Institute for Clinical Brain Research Institut für Schlaganfall- und Demenzforschung Ludwig-Maximilians-Universität München Karolinska Institutet QIMR Berghofer Medical Research Institute Universität Ulm University of Oulu Tampere University Fimlab (Finland)University of Duisburg-Essen Reykjavík University National University Hospital of Iceland Amsterdam UMC Location Vrije Universiteit Amsterdam Washington University in St. Louis University Medical Center Groningen University of Groningen University of Oxford Genomics (United Kingdom)John Radcliffe Hospital Max Planck Institute of Psychiatry Christian-Albrechts-Universität zu Kiel Helmholtz Munich Finnish Institute for Health and Welfare 657 Oslo Norwegian Institute of Public Health Clinical Research Center Kiel Glostrup Hospital Rigshospitalet Mental Health Services Lundbeck Foundation University of Turku Turku University Hospital Universität Hamburg University Medical Center Hamburg-Eppendorf St George's, University of London Munich Cluster for Systems Neurology University of Iceland Queensland University of Technology University of California, Davis Monash University UK Dementia Research Institute National Institutes of Health Institute on Aging National Institute on Aging McGill Genome Centre The University of Texas Health Science Center

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Cerebrovascular and genetic disordersNeurological Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

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