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Towards the genetic basis of cerebral venous thrombosis—the BEAST Consortium: a study protocol

Identifieur interne : 001518 ( Main/Exploration ); précédent : 001517; suivant : 001519

Towards the genetic basis of cerebral venous thrombosis—the BEAST Consortium: a study protocol

Auteurs : Ioana Cotlarciuc [Royaume-Uni] ; Thomas Marjot [Royaume-Uni] ; Muhammad S. Khan [Royaume-Uni] ; Sini Hiltunen [Finlande] ; Elena Haapaniemi [Finlande] ; Tiina M. Metso [Finlande] ; Jukka Putaala [Finlande] ; Susanna M. Zuurbier [Pays-Bas] ; Matthijs C. Brouwer [Pays-Bas] ; Serena M. Passamonti [Italie] ; Paolo Bucciarelli [Italie] ; Emanuela Pappalardo [Italie] ; Tasmin Patel [Royaume-Uni] ; Paolo Costa [Italie] ; Marina Colombi [Italie] ; Patrícia Canhão [Portugal] ; Aleksander Tkach [États-Unis] ; Rosa Santacroce [Italie] ; Maurizio Margaglione [Italie] ; Giovanni Favuzzi [Italie] ; Elvira Grandone [Italie] ; Donatella Colaizzo [Italie] ; Kostas Spengos [Grèce] ; Antonio Arauz [Mexique] ; Amanda Hodge [Canada] ; Reina Ditta [Canada] ; Stephanie Debette [France] ; Marialuisa Zedde [Italie] ; Guillaume Pare [Canada] ; José M. Ferro [Portugal] ; Vincent Thijs [Australie] ; Alessandro Pezzini [Italie] ; Jennifer J. Majersik [États-Unis] ; Ida Martinelli [Italie] ; Jonathan M. Coutinho [Pays-Bas] ; Turgut Tatlisumak [Finlande, Suède] ; Pankaj Sharma [Royaume-Uni]

Source :

RBID : PMC:5128947

Abstract

Introduction

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.


Url:
DOI: 10.1136/bmjopen-2016-012351
PubMed: 27881526
PubMed Central: 5128947


Affiliations:


Links toward previous steps (curation, corpus...)


Le document en format XML

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<name sortKey="Hodge, Amanda" sort="Hodge, Amanda" uniqKey="Hodge A" first="Amanda" last="Hodge">Amanda Hodge</name>
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<name sortKey="Debette, Stephanie" sort="Debette, Stephanie" uniqKey="Debette S" first="Stephanie" last="Debette">Stephanie Debette</name>
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<addr-line>Reggio Emilia</addr-line>
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<name sortKey="Pare, Guillaume" sort="Pare, Guillaume" uniqKey="Pare G" first="Guillaume" last="Pare">Guillaume Pare</name>
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<addr-line>Hamilton, Ontario</addr-line>
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<name sortKey="Ferro, Jose M" sort="Ferro, Jose M" uniqKey="Ferro J" first="José M" last="Ferro">José M. Ferro</name>
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<institution>Hospital de Santa Maria, University of Lisbon</institution>
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<addr-line>Lisbon</addr-line>
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<name sortKey="Thijs, Vincent" sort="Thijs, Vincent" uniqKey="Thijs V" first="Vincent" last="Thijs">Vincent Thijs</name>
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<addr-line>Department of Neurology</addr-line>
,
<institution>Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne</institution>
,
<addr-line>Heidelberg, Victoria</addr-line>
,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<name sortKey="Pezzini, Alessandro" sort="Pezzini, Alessandro" uniqKey="Pezzini A" first="Alessandro" last="Pezzini">Alessandro Pezzini</name>
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<addr-line>Department of Clinical and Experimental Sciences</addr-line>
,
<institution>Neurology Clinic, University of Brescia</institution>
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<addr-line>Brescia</addr-line>
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<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author>
<name sortKey="Majersik, Jennifer J" sort="Majersik, Jennifer J" uniqKey="Majersik J" first="Jennifer J" last="Majersik">Jennifer J. Majersik</name>
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<nlm:aff id="af10">
<addr-line>Department of Neurology</addr-line>
,
<institution>University of Utah</institution>
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<addr-line>Salt Lake City, Utah</addr-line>
,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<affiliation wicri:level="1">
<nlm:aff id="af6">
<institution>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico</institution>
,
<addr-line>Milan</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Coutinho, Jonathan M" sort="Coutinho, Jonathan M" uniqKey="Coutinho J" first="Jonathan M" last="Coutinho">Jonathan M. Coutinho</name>
<affiliation wicri:level="1">
<nlm:aff id="af5">
<addr-line>Department of Neurology</addr-line>
,
<institution>Academic Medical Center, University of Amsterdam</institution>
,
<addr-line>Amsterdam</addr-line>
,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Tatlisumak, Turgut" sort="Tatlisumak, Turgut" uniqKey="Tatlisumak T" first="Turgut" last="Tatlisumak">Turgut Tatlisumak</name>
<affiliation wicri:level="1">
<nlm:aff id="af4">
<addr-line>Department of Neurology</addr-line>
,
<institution>Helsinki University Central Hospital</institution>
,
<addr-line>Helsinki</addr-line>
,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af19">
<institution>Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg</institution>
,
<addr-line>Gothenburg</addr-line>
,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af20">
<addr-line>Department of Neurology</addr-line>
,
<institution>Sahlgrenska University Hospital</institution>
,
<addr-line>Gothenburg</addr-line>
,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Sharma, Pankaj" sort="Sharma, Pankaj" uniqKey="Sharma P" first="Pankaj" last="Sharma">Pankaj Sharma</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL)</institution>
,
<addr-line>London</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PMC</idno>
<idno type="pmid">27881526</idno>
<idno type="pmc">5128947</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5128947</idno>
<idno type="RBID">PMC:5128947</idno>
<idno type="doi">10.1136/bmjopen-2016-012351</idno>
<date when="2016">2016</date>
<idno type="wicri:Area/Pmc/Corpus">001359</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001359</idno>
<idno type="wicri:Area/Pmc/Curation">001219</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001219</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000515</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000515</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001643</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001643</idno>
<idno type="wicri:Area/PubMed/Curation">001621</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001621</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001621</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001621</idno>
<idno type="wicri:Area/Ncbi/Merge">003F24</idno>
<idno type="wicri:Area/Ncbi/Curation">003F24</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003F24</idno>
<idno type="wicri:Area/Main/Merge">001513</idno>
<idno type="wicri:Area/Main/Curation">001518</idno>
<idno type="wicri:Area/Main/Exploration">001518</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en" level="a" type="main">Towards the genetic basis of cerebral venous thrombosis—the BEAST Consortium: a study protocol</title>
<author>
<name sortKey="Cotlarciuc, Ioana" sort="Cotlarciuc, Ioana" uniqKey="Cotlarciuc I" first="Ioana" last="Cotlarciuc">Ioana Cotlarciuc</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL)</institution>
,
<addr-line>London</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Marjot, Thomas" sort="Marjot, Thomas" uniqKey="Marjot T" first="Thomas" last="Marjot">Thomas Marjot</name>
<affiliation wicri:level="1">
<nlm:aff id="af2">
<addr-line>Department of Gastroenterology and Hepatology</addr-line>
,
<institution>University of Oxford, Oxford University Hospitals NHS Trust</institution>
,
<addr-line>Oxford, Oxfordshire</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Khan, Muhammad S" sort="Khan, Muhammad S" uniqKey="Khan M" first="Muhammad S" last="Khan">Muhammad S. Khan</name>
<affiliation wicri:level="1">
<nlm:aff id="af3">
<addr-line>Department of Restorative Neuroscience</addr-line>
,
<institution>Imperial College London</institution>
,
<addr-line>London</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Hiltunen, Sini" sort="Hiltunen, Sini" uniqKey="Hiltunen S" first="Sini" last="Hiltunen">Sini Hiltunen</name>
<affiliation wicri:level="1">
<nlm:aff id="af4">
<addr-line>Department of Neurology</addr-line>
,
<institution>Helsinki University Central Hospital</institution>
,
<addr-line>Helsinki</addr-line>
,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Haapaniemi, Elena" sort="Haapaniemi, Elena" uniqKey="Haapaniemi E" first="Elena" last="Haapaniemi">Elena Haapaniemi</name>
<affiliation wicri:level="1">
<nlm:aff id="af4">
<addr-line>Department of Neurology</addr-line>
,
<institution>Helsinki University Central Hospital</institution>
,
<addr-line>Helsinki</addr-line>
,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Metso, Tiina M" sort="Metso, Tiina M" uniqKey="Metso T" first="Tiina M" last="Metso">Tiina M. Metso</name>
<affiliation wicri:level="1">
<nlm:aff id="af4">
<addr-line>Department of Neurology</addr-line>
,
<institution>Helsinki University Central Hospital</institution>
,
<addr-line>Helsinki</addr-line>
,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Putaala, Jukka" sort="Putaala, Jukka" uniqKey="Putaala J" first="Jukka" last="Putaala">Jukka Putaala</name>
<affiliation wicri:level="1">
<nlm:aff id="af4">
<addr-line>Department of Neurology</addr-line>
,
<institution>Helsinki University Central Hospital</institution>
,
<addr-line>Helsinki</addr-line>
,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Zuurbier, Susanna M" sort="Zuurbier, Susanna M" uniqKey="Zuurbier S" first="Susanna M" last="Zuurbier">Susanna M. Zuurbier</name>
<affiliation wicri:level="1">
<nlm:aff id="af5">
<addr-line>Department of Neurology</addr-line>
,
<institution>Academic Medical Center, University of Amsterdam</institution>
,
<addr-line>Amsterdam</addr-line>
,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Brouwer, Matthijs C" sort="Brouwer, Matthijs C" uniqKey="Brouwer M" first="Matthijs C" last="Brouwer">Matthijs C. Brouwer</name>
<affiliation wicri:level="1">
<nlm:aff id="af5">
<addr-line>Department of Neurology</addr-line>
,
<institution>Academic Medical Center, University of Amsterdam</institution>
,
<addr-line>Amsterdam</addr-line>
,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Passamonti, Serena M" sort="Passamonti, Serena M" uniqKey="Passamonti S" first="Serena M" last="Passamonti">Serena M. Passamonti</name>
<affiliation wicri:level="1">
<nlm:aff id="af6">
<institution>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico</institution>
,
<addr-line>Milan</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Bucciarelli, Paolo" sort="Bucciarelli, Paolo" uniqKey="Bucciarelli P" first="Paolo" last="Bucciarelli">Paolo Bucciarelli</name>
<affiliation wicri:level="1">
<nlm:aff id="af6">
<institution>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico</institution>
,
<addr-line>Milan</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Pappalardo, Emanuela" sort="Pappalardo, Emanuela" uniqKey="Pappalardo E" first="Emanuela" last="Pappalardo">Emanuela Pappalardo</name>
<affiliation wicri:level="1">
<nlm:aff id="af6">
<institution>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico</institution>
,
<addr-line>Milan</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Patel, Tasmin" sort="Patel, Tasmin" uniqKey="Patel T" first="Tasmin" last="Patel">Tasmin Patel</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL)</institution>
,
<addr-line>London</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Costa, Paolo" sort="Costa, Paolo" uniqKey="Costa P" first="Paolo" last="Costa">Paolo Costa</name>
<affiliation wicri:level="1">
<nlm:aff id="af7">
<addr-line>Department of Clinical and Experimental Sciences</addr-line>
,
<institution>Neurology Clinic, University of Brescia</institution>
,
<addr-line>Brescia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Colombi, Marina" sort="Colombi, Marina" uniqKey="Colombi M" first="Marina" last="Colombi">Marina Colombi</name>
<affiliation wicri:level="1">
<nlm:aff id="af8">
<addr-line>Department of Molecular and Translational Medicine, Division of Biology and Genetics</addr-line>
,
<institution>University of Brescia</institution>
,
<addr-line>Brescia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Canhao, Patricia" sort="Canhao, Patricia" uniqKey="Canhao P" first="Patrícia" last="Canhão">Patrícia Canhão</name>
<affiliation wicri:level="1">
<nlm:aff id="af9">
<addr-line>Department of Neurosciences</addr-line>
,
<institution>Hospital de Santa Maria, University of Lisbon</institution>
,
<addr-line>Lisbon</addr-line>
,
<country>Portugal</country>
</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Tkach, Aleksander" sort="Tkach, Aleksander" uniqKey="Tkach A" first="Aleksander" last="Tkach">Aleksander Tkach</name>
<affiliation wicri:level="1">
<nlm:aff id="af10">
<addr-line>Department of Neurology</addr-line>
,
<institution>University of Utah</institution>
,
<addr-line>Salt Lake City, Utah</addr-line>
,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Santacroce, Rosa" sort="Santacroce, Rosa" uniqKey="Santacroce R" first="Rosa" last="Santacroce">Rosa Santacroce</name>
<affiliation wicri:level="1">
<nlm:aff id="af11">
<addr-line>Medical Genetics, Department of Clinical and Experimental Medicine</addr-line>
,
<institution>University of Foggia</institution>
,
<addr-line>Foggia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Margaglione, Maurizio" sort="Margaglione, Maurizio" uniqKey="Margaglione M" first="Maurizio" last="Margaglione">Maurizio Margaglione</name>
<affiliation wicri:level="1">
<nlm:aff id="af11">
<addr-line>Medical Genetics, Department of Clinical and Experimental Medicine</addr-line>
,
<institution>University of Foggia</institution>
,
<addr-line>Foggia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Favuzzi, Giovanni" sort="Favuzzi, Giovanni" uniqKey="Favuzzi G" first="Giovanni" last="Favuzzi">Giovanni Favuzzi</name>
<affiliation wicri:level="1">
<nlm:aff id="af12">
<addr-line>Atherosclerosis and Thrombosis Unit</addr-line>
,
<institution>IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo</institution>
,
<addr-line>Foggia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Grandone, Elvira" sort="Grandone, Elvira" uniqKey="Grandone E" first="Elvira" last="Grandone">Elvira Grandone</name>
<affiliation wicri:level="1">
<nlm:aff id="af12">
<addr-line>Atherosclerosis and Thrombosis Unit</addr-line>
,
<institution>IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo</institution>
,
<addr-line>Foggia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Colaizzo, Donatella" sort="Colaizzo, Donatella" uniqKey="Colaizzo D" first="Donatella" last="Colaizzo">Donatella Colaizzo</name>
<affiliation wicri:level="1">
<nlm:aff id="af12">
<addr-line>Atherosclerosis and Thrombosis Unit</addr-line>
,
<institution>IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo</institution>
,
<addr-line>Foggia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Spengos, Kostas" sort="Spengos, Kostas" uniqKey="Spengos K" first="Kostas" last="Spengos">Kostas Spengos</name>
<affiliation wicri:level="1">
<nlm:aff id="af13">
<addr-line>Department of Neurology</addr-line>
,
<institution>University of Athens School of Medicine, Eginition Hospital</institution>
,
<addr-line>Athens</addr-line>
,
<country>Greece</country>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Arauz, Antonio" sort="Arauz, Antonio" uniqKey="Arauz A" first="Antonio" last="Arauz">Antonio Arauz</name>
<affiliation wicri:level="1">
<nlm:aff id="af14">
<institution>Stroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez</institution>
,
<addr-line>Mexico City</addr-line>
,
<country>Mexico</country>
</nlm:aff>
<country xml:lang="fr">Mexique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Hodge, Amanda" sort="Hodge, Amanda" uniqKey="Hodge A" first="Amanda" last="Hodge">Amanda Hodge</name>
<affiliation wicri:level="1">
<nlm:aff id="af15">
<addr-line>Department of Pathology and Molecular Medicine</addr-line>
,
<institution>Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University</institution>
,
<addr-line>Hamilton, Ontario</addr-line>
,
<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Ditta, Reina" sort="Ditta, Reina" uniqKey="Ditta R" first="Reina" last="Ditta">Reina Ditta</name>
<affiliation wicri:level="1">
<nlm:aff id="af15">
<addr-line>Department of Pathology and Molecular Medicine</addr-line>
,
<institution>Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University</institution>
,
<addr-line>Hamilton, Ontario</addr-line>
,
<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Debette, Stephanie" sort="Debette, Stephanie" uniqKey="Debette S" first="Stephanie" last="Debette">Stephanie Debette</name>
<affiliation wicri:level="1">
<nlm:aff id="af16">
<addr-line>Department of Neurology</addr-line>
,
<institution>Bordeaux University Hospital, Bordeaux University</institution>
,
<addr-line>Bordeaux</addr-line>
,
<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Zedde, Marialuisa" sort="Zedde, Marialuisa" uniqKey="Zedde M" first="Marialuisa" last="Zedde">Marialuisa Zedde</name>
<affiliation wicri:level="1">
<nlm:aff id="af17">
<addr-line>Neurology Unit, Stroke Unit</addr-line>
,
<institution>Arcispedale Santa Maria Nuova—IRCCS</institution>
,
<addr-line>Reggio Emilia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Pare, Guillaume" sort="Pare, Guillaume" uniqKey="Pare G" first="Guillaume" last="Pare">Guillaume Pare</name>
<affiliation wicri:level="1">
<nlm:aff id="af15">
<addr-line>Department of Pathology and Molecular Medicine</addr-line>
,
<institution>Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University</institution>
,
<addr-line>Hamilton, Ontario</addr-line>
,
<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Ferro, Jose M" sort="Ferro, Jose M" uniqKey="Ferro J" first="José M" last="Ferro">José M. Ferro</name>
<affiliation wicri:level="1">
<nlm:aff id="af9">
<addr-line>Department of Neurosciences</addr-line>
,
<institution>Hospital de Santa Maria, University of Lisbon</institution>
,
<addr-line>Lisbon</addr-line>
,
<country>Portugal</country>
</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Thijs, Vincent" sort="Thijs, Vincent" uniqKey="Thijs V" first="Vincent" last="Thijs">Vincent Thijs</name>
<affiliation wicri:level="1">
<nlm:aff id="af18">
<addr-line>Department of Neurology</addr-line>
,
<institution>Austin Health and Florey Institute of Neuroscience and Mental Health, University of Melbourne</institution>
,
<addr-line>Heidelberg, Victoria</addr-line>
,
<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Pezzini, Alessandro" sort="Pezzini, Alessandro" uniqKey="Pezzini A" first="Alessandro" last="Pezzini">Alessandro Pezzini</name>
<affiliation wicri:level="1">
<nlm:aff id="af7">
<addr-line>Department of Clinical and Experimental Sciences</addr-line>
,
<institution>Neurology Clinic, University of Brescia</institution>
,
<addr-line>Brescia</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Majersik, Jennifer J" sort="Majersik, Jennifer J" uniqKey="Majersik J" first="Jennifer J" last="Majersik">Jennifer J. Majersik</name>
<affiliation wicri:level="1">
<nlm:aff id="af10">
<addr-line>Department of Neurology</addr-line>
,
<institution>University of Utah</institution>
,
<addr-line>Salt Lake City, Utah</addr-line>
,
<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Martinelli, Ida" sort="Martinelli, Ida" uniqKey="Martinelli I" first="Ida" last="Martinelli">Ida Martinelli</name>
<affiliation wicri:level="1">
<nlm:aff id="af6">
<institution>Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico</institution>
,
<addr-line>Milan</addr-line>
,
<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Coutinho, Jonathan M" sort="Coutinho, Jonathan M" uniqKey="Coutinho J" first="Jonathan M" last="Coutinho">Jonathan M. Coutinho</name>
<affiliation wicri:level="1">
<nlm:aff id="af5">
<addr-line>Department of Neurology</addr-line>
,
<institution>Academic Medical Center, University of Amsterdam</institution>
,
<addr-line>Amsterdam</addr-line>
,
<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Tatlisumak, Turgut" sort="Tatlisumak, Turgut" uniqKey="Tatlisumak T" first="Turgut" last="Tatlisumak">Turgut Tatlisumak</name>
<affiliation wicri:level="1">
<nlm:aff id="af4">
<addr-line>Department of Neurology</addr-line>
,
<institution>Helsinki University Central Hospital</institution>
,
<addr-line>Helsinki</addr-line>
,
<country>Finland</country>
</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af19">
<institution>Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg</institution>
,
<addr-line>Gothenburg</addr-line>
,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="af20">
<addr-line>Department of Neurology</addr-line>
,
<institution>Sahlgrenska University Hospital</institution>
,
<addr-line>Gothenburg</addr-line>
,
<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Sharma, Pankaj" sort="Sharma, Pankaj" uniqKey="Sharma P" first="Pankaj" last="Sharma">Pankaj Sharma</name>
<affiliation wicri:level="1">
<nlm:aff id="af1">
<institution>Institute of Cardiovascular Research Royal Holloway, University of London (ICR2UL)</institution>
,
<addr-line>London</addr-line>
,
<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series>
<title level="j">BMJ Open</title>
<idno type="eISSN">2044-6055</idno>
<imprint>
<date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<sec>
<title>Introduction</title>
<p>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.</p>
</sec>
<sec>
<title>Methods and analysis</title>
<p>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.</p>
</sec>
<sec>
<title>Ethics and dissemination</title>
<p>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.</p>
</sec>
</div>
</front>
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<li>Finlande</li>
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