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Title: Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol
Austin Authors: Cotlarciuc, Ioana;Marjot, Thomas;Khan, Muhammad S;Hiltunen, Sini;Haapaniemi, Elena;Metso, Tiina M;Putaala, Jukka;Zuurbier, Susanna M;Brouwer, Matthijs C;Passamonti, Serena M;Bucciarelli, Paolo;Pappalardo, Emanuela;Patel, Tasmin;Costa, Paolo;Colombi, Marina;Canhão, Patrícia;Tkach, Aleksander;Santacroce, Rosa;Margaglione, Maurizio;Favuzzi, Giovanni;Grandone, Elvira;Colaizzo, Donatella;Spengos, Kostas;Arauz, Antonio;Hodge, Amanda;Ditta, Reina;Debette, Stephanie;Zedde, Marialuisa;Pare, Guillaume;Ferro, José M;Thijs, Vincent;Pezzini, Alessandro;Majersik, Jennifer J;Martinelli, Ida;Coutinho, Jonathan M;Tatlisumak, Turgut;Sharma, Pankaj;ISGC (International Stroke Genetics Consortium);BEAST investigators
Affiliation: Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK
Department of Gastroenterology and Hepatology, University of Oxford, Oxford University Hospitals NHS Trust, Oxford, Oxfordshire, UK
Department of Restorative Neuroscience, Imperial College London, London, UK
Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland
Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy
Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy
Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal
Department of Neurology, University of Utah, Salt Lake City, Utah, USA
Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy
Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy
Department of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens, Greece
Stroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico
Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada
Department of Neurology, Bordeaux University Hospital, Bordeaux University, Bordeaux, France
Neurology Unit, Stroke Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy
Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australia
Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden
Issue Date: 22-Nov-2016 2016-11-22
Publication information: BMJ Open 2016; 6(11): :e012351
Abstract: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. METHODS AND ANALYSIS: To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease. ETHICS AND DISSEMINATION: BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders.
DOI: 10.1136/bmjopen-2016-012351
Journal: BMJ Open
PubMed URL:
Type: Journal Article
Subjects: Cerebral venous thrombosis
Ischaemic Stroke
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