Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/27441
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dc.contributor.authorKen-Dror, Gie-
dc.contributor.authorCotlarciuc, Ioana-
dc.contributor.authorMartinelli, Ida-
dc.contributor.authorGrandone, Elvira-
dc.contributor.authorHiltunen, Sini-
dc.contributor.authorLindgren, Erik-
dc.contributor.authorMargaglione, Maurizio-
dc.contributor.authorDuchez, Veronique Le Cam-
dc.contributor.authorTriquenot, Aude Bagan-
dc.contributor.authorZedde, Marialuisa-
dc.contributor.authorMancuso, Michelangelo-
dc.contributor.authorRuigrok, Ynte M-
dc.contributor.authorMarjot, Thomas-
dc.contributor.authorWorrall, Brad-
dc.contributor.authorMajersik, Jennifer J-
dc.contributor.authorMetso, Tiina M-
dc.contributor.authorPutaala, Jukka-
dc.contributor.authorHaapaniemi, Elena-
dc.contributor.authorZuurbier, Susanna M-
dc.contributor.authorBrouwer, Matthijs C-
dc.contributor.authorPassamonti, Serena M-
dc.contributor.authorAbbattista, Maria-
dc.contributor.authorBucciarelli, Paolo-
dc.contributor.authorMitchell, Braxton D-
dc.contributor.authorKittner, Steven J-
dc.contributor.authorLemmens, Robin-
dc.contributor.authorJern, Christina-
dc.contributor.authorPappalardo, Emanuela-
dc.contributor.authorCosta, Paolo-
dc.contributor.authorColombi, Marina-
dc.contributor.authorde Sousa, Diana Aguiar-
dc.contributor.authorRodrigues, Sofia-
dc.contributor.authorCanhão, Patrícia-
dc.contributor.authorTkach, Aleksander-
dc.contributor.authorSantacroce, Rosa-
dc.contributor.authorFavuzzi, Giovanni-
dc.contributor.authorArauz, Antonio-
dc.contributor.authorColaizzo, Donatella-
dc.contributor.authorSpengos, Kostas-
dc.contributor.authorHodge, Amanda-
dc.contributor.authorDitta, Reina-
dc.contributor.authorPezzini, Alessandro-
dc.contributor.authorDebette, Stephanie-
dc.contributor.authorCoutinho, Jonathan M-
dc.contributor.authorThijs, Vincent N-
dc.contributor.authorJood, Katarina-
dc.contributor.authorPare, Guillaume-
dc.contributor.authorTatlisumak, Turgut-
dc.contributor.authorFerro, José M-
dc.contributor.authorSharma, Pankaj-
dc.date2021-08-30-
dc.date.accessioned2021-09-06T06:15:54Z-
dc.date.available2021-09-06T06:15:54Z-
dc.date.issued2021-11-
dc.identifier.citationAnnals of neurology 2021; 90(5): 777-788en
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/27441-
dc.description.abstractCerebral venous thrombosis (CVT) is an uncommon form of stroke affecting mostly young individuals. Although genetic factors are thought to play a role in this cerebrovascular condition, its genetic etiology is not well understood. Genome-wide association study performed to identify genetic variants influencing susceptibility to CVT. A two-stage genome-wide study was undertaken in 882 Europeans diagnosed with CVT and 1205 ethnicity-matched control subjects divided into discovery and independent replication datasets. In the overall case-control cohort, we identified highly significant associations with 37 SNPs within 9q34.2 region. The strongest association was with rs8176645 (combined P = 9.15 × 10-24 ; OR = 2.01, 95%CI: 1.76-2.31). The discovery set findings were validated across an independent European cohort. Genetic risk score for this 9q34.2 region increases CVT risk by a pooled estimate OR = 2.65 (95%CI: 2.21-3.20, P = 2.00 × 10-16 ). SNPs within this region were in strong linkage disequilibrium (LD) with coding regions of the ABO gene. ABO blood group was determined using allele combination of SNPs rs8176746 and rs8176645. Blood groups A, B or AB, were at 2.85 times (95%CI: 2.32-3.52, P = 2.00 × 10-16 ) increased risk of CVT compared with individuals with blood group-O. We present the first chromosomal region to robustly associate with a genetic susceptibility to CVT. This region more than doubles the likelihood of CVT, a risk greater than any previously identified thrombophilia genetic risk marker. That the identified variant is in strong LD with the coding region of the ABO gene with differences in blood group prevalence provides important new insights into the pathophysiology of CVT. This article is protected by copyright. All rights reserved.en
dc.language.isoeng-
dc.titleGenome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis.en
dc.typeJournal Articleen
dc.identifier.journaltitleAnnals of Neurologyen
dc.identifier.affiliationDepartment of Clinical Neuroscience, Imperial College Healthcare NHS Trust, Londonen
dc.identifier.affiliationAtherosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italyen
dc.identifier.affiliationOb/Gyn Dept. The First I.M. Sechenov Moscow State Medical Universityen
dc.identifier.affiliationNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationDepartment of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Swedenen
dc.identifier.affiliationDepartment of Neurology, Sahlgrenska University Hospital, Gothenburg, Swedenen
dc.identifier.affiliationDepartment of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USAen
dc.identifier.affiliationDepartment of Neurology, Veterans Affairs Medical Center, Baltimore, Maryland, USAen
dc.identifier.affiliationKU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology; VIB Center for Brain & Disease Research, University Hospitals Leuven, Department of Neurology, Leuven, Belgiumen
dc.identifier.affiliationDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Swedenen
dc.identifier.affiliationMedical Genetics, Dept. of Clinical and Experimental Medicine, University of Foggia, Italyen
dc.identifier.affiliationNormandie University, UNIROUEN, INSERM U1096, Rouen University Hospital, Vascular Hemostasis Unit and Inserm CIC-CRB 1404, F 76000, Rouen, Franceen
dc.identifier.affiliationRouen University Hospital, Department of Neurology, F 76000, Rouen, Franceen
dc.identifier.affiliationNeurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Italyen
dc.identifier.affiliationDepartment of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Italyen
dc.identifier.affiliationUMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, the Netherlandsen
dc.identifier.affiliationOxford Liver Unit, Translational Gastroenterology Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UKen
dc.identifier.affiliationDepartment of Neurology, University of Virginia, Charlottesville, Virginia, USAen
dc.identifier.affiliationDepartment of Neurology, University of Utah, Salt Lake City, Utah, USAen
dc.identifier.affiliationDepartment of Neurology, Amsterdam University Medical Centers, location AMC, Amsterdam Neuroscience, University of Amsterdam, the Netherlandsen
dc.identifier.affiliationDepartment of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USAen
dc.identifier.affiliationGeriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, Maryland, USAen
dc.identifier.affiliationDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Swedenen
dc.identifier.affiliationDepartment of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Italyen
dc.identifier.affiliationDepartment of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugalen
dc.identifier.affiliationStroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexicoen
dc.identifier.affiliationDepartment of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens, Greeceen
dc.identifier.affiliationMcMaster University, Pathology and Molecular Medicine. Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, Ontario, Canadaen
dc.identifier.affiliationDepartment of Neurology, Bordeaux University Hospital, Bordeaux University, Franceen
dc.identifier.affiliationStroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationGeriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, Maryland, USAen
dc.identifier.affiliationInstitute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UKen
dc.identifier.affiliationA. Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, Milan, Italyen
dc.identifier.affiliationInstitute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UKen
dc.identifier.affiliationDepartment of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Swedenen
dc.identifier.affiliationDepartment of Neurology, Sahlgrenska University Hospital, Gothenburg, Swedenen
dc.identifier.affiliationDepartment of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USAen
dc.identifier.affiliationDepartment of Neurology, Veterans Affairs Medical Center, Baltimore, Maryland, USAen
dc.identifier.affiliationDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Swedenen
dc.identifier.affiliationDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Swedenen
dc.identifier.affiliationStroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationAtherosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italyen
dc.identifier.affiliationOb/Gyn Dept. The First I.M. Sechenov Moscow State Medical Universityen
dc.identifier.affiliationDepartment of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USAen
dc.identifier.affiliationInstitute of Cardiovascular Research Royal Holloway, University of London (ICR2UL), London, UKen
dc.identifier.affiliationA. Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, Milan, Italyen
dc.identifier.affiliationNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationMedical Genetics, Dept. of Clinical and Experimental Medicine, University of Foggia, Italyen
dc.identifier.affiliationNormandie University, UNIROUEN, INSERM U1096, Rouen University Hospital, Vascular Hemostasis Unit and Inserm CIC-CRB 1404, F 76000, Rouen, Franceen
dc.identifier.affiliationRouen University Hospital, Department of Neurology, F 76000, Rouen, Franceen
dc.identifier.affiliationNeurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Italyen
dc.identifier.affiliationDepartment of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Italyen
dc.identifier.affiliationUMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, the Netherlandsen
dc.identifier.affiliationOxford Liver Unit, Translational Gastroenterology Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UKen
dc.identifier.affiliationDepartment of Neurology, University of Virginia, Charlottesville, Virginia, USAen
dc.identifier.affiliationDepartment of Neurology, University of Utah, Salt Lake City, Utah, USAen
dc.identifier.affiliationNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationDepartment of Neurology, Amsterdam University Medical Centers, location AMC, Amsterdam Neuroscience, University of Amsterdam, the Netherlandsen
dc.identifier.affiliationA. Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, Milan, Italyen
dc.identifier.affiliationKU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology; VIB Center for Brain & Disease Research, University Hospitals Leuven, Department of Neurology, Leuven, Belgiumen
dc.identifier.affiliationA. Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca'Granda - Ospedale Maggiore Policlinico, Milan, Italyen
dc.identifier.affiliationDepartment of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Italyen
dc.identifier.affiliationDepartment of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Italyen
dc.identifier.affiliationDepartment of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugalen
dc.identifier.affiliationDepartment of Neurology, University of Utah, Salt Lake City, Utah, USAen
dc.identifier.affiliationMedical Genetics, Dept. of Clinical and Experimental Medicine, University of Foggia, Italyen
dc.identifier.affiliationAtherosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italyen
dc.identifier.affiliationStroke Clinic, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexicoen
dc.identifier.affiliationAtherosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italyen
dc.identifier.affiliationDepartment of Neurology, University of Athens School of Medicine, Eginition Hospital, Athens, Greeceen
dc.identifier.affiliationMcMaster University, Pathology and Molecular Medicine. Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, Ontario, Canadaen
dc.identifier.affiliationDepartment of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Italyen
dc.identifier.affiliationDepartment of Neurology, Bordeaux University Hospital, Bordeaux University, Franceen
dc.identifier.affiliationDepartment of Neurology, Amsterdam University Medical Centers, location AMC, Amsterdam Neuroscience, University of Amsterdam, the Netherlandsen
dc.identifier.affiliationMcMaster University, Pathology and Molecular Medicine. Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, Ontario, Canadaen
dc.identifier.affiliationDepartment of Neurosciences, Hospital de Santa Maria, University of Lisbon, Lisbon, Portugalen
dc.identifier.doi10.1002/ana.26205en
dc.type.contentTexten
dc.identifier.orcid0000-0003-3747-7112en
dc.identifier.pubmedid34459509-
local.name.researcherThijs, Vincent N
item.grantfulltextnone-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
crisitem.author.deptNeurology-
crisitem.author.deptThe Florey Institute of Neuroscience and Mental Health-
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