title: Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.
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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.
authors.forename: Ioana
authors.initials: I
authors.lastname: Cotlarciuc
authors.affiliation: Department of Gastroenterology and Hepatology, University of Oxford, Oxford University Hospitals NHS Trust, Oxford, Oxfordshire, UK.
authors.forename: Thomas
authors.initials: T
authors.lastname: Marjot
authors.affiliation: Department of Restorative Neuroscience, Imperial College London, London, UK.
authors.forename: Muhammad S
authors.initials: MS
authors.lastname: Khan
authors.affiliation: Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Sini
authors.initials: S
authors.lastname: Hiltunen
authors.affiliation: Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Elena
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authors.lastname: Haapaniemi
authors.affiliation: Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Tiina M
authors.initials: TM
authors.lastname: Metso
authors.affiliation: Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Jukka
authors.initials: J
authors.lastname: Putaala
authors.affiliation: Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Susanna M
authors.initials: SM
authors.lastname: Zuurbier
authors.affiliation: Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Matthijs C
authors.initials: MC
authors.lastname: Brouwer
authors.affiliation: Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Serena M
authors.initials: SM
authors.lastname: Passamonti
authors.affiliation: Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Bucciarelli
authors.affiliation: Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Pappalardo
authors.affiliation: Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.
authors.forename: Tasmin
authors.initials: T
authors.lastname: Patel
authors.affiliation: Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Costa
authors.affiliation: Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
authors.affiliation: Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.
authors.forename: Patrícia
authors.initials: P
authors.lastname: Canhão
authors.affiliation: Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Aleksander
authors.initials: A
authors.lastname: Tkach
authors.affiliation: Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: Santacroce
authors.affiliation: Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
authors.affiliation: Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Favuzzi
authors.affiliation: Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
authors.forename: Elvira
authors.initials: E
authors.lastname: Grandone
authors.affiliation: Atherosclerosis and Thrombosis Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Colaizzo
authors.affiliation: Department of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens, Greece.
authors.forename: Kostas
authors.initials: K
authors.lastname: Spengos
authors.affiliation: Stroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico.
authors.forename: Antonio
authors.initials: A
authors.lastname: Arauz
authors.affiliation: Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Amanda
authors.initials: A
authors.lastname: Hodge
authors.affiliation: Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Reina
authors.initials: R
authors.lastname: Ditta
authors.affiliation: Department of Neurology, Bordeaux University Hospital, Bordeaux University, Bordeaux, France.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Debette
authors.affiliation: Neurology Unit, Stroke Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
authors.forename: Marialuisa
authors.initials: M
authors.lastname: Zedde
authors.affiliation: Department of Pathology and Molecular Medicine, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Pare
authors.affiliation: Department of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugal.
authors.forename: José M
authors.initials: JM
authors.lastname: Ferro
authors.affiliation: Department of Neurology, Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Vincent
authors.initials: V
authors.lastname: Thijs
authors.affiliation: Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pezzini
authors.affiliation: Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Majersik
authors.affiliation: Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Ida
authors.initials: I
authors.lastname: Martinelli
authors.affiliation: Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Coutinho
authors.affiliation: Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland.|Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.|Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
authors.forename: Turgut
authors.initials: T
authors.lastname: Tatlisumak
authors.affiliation: Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UK.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Sharma
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D020767:Intracranial Thrombosis / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D020246:Venous Thrombosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: cerebral venous thrombosis; ischemic stroke