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Genome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis

dc.rights.licenseopenen_US
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.authorCANHAO, Patricia
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
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEBETTE, Stephanie
dc.contributor.authorCOUTINHO, Jonathan M.
dc.contributor.authorTHIJS, Vincent
dc.contributor.authorJOOD, Katarina
dc.contributor.authorPARE, Guillaume
dc.contributor.authorTATLISUMAK, Turgut
dc.contributor.authorFERRO, Jose M.
dc.contributor.authorSHARMA, Pankaj
dc.contributor.authorINTERNATIONAL STROKE GENETICS, Consortium
dc.contributor.authorBIO-REPOSITORY TO ESTABLISH THE AETIOLOGY OF SINOVENOUS THROMBOSIS, Collaborators
dc.date.accessioned2021-10-04T07:52:11Z
dc.date.available2021-10-04T07:52:11Z
dc.date.issued2021-08-30
dc.identifier.issn0364-5134en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/112533
dc.description.abstractEnOBJECTIVE: Cerebral 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. METHODS: 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. RESULTS: 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. INTERPRETATION: 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.
dc.language.isoENen_US
dc.title.enGenome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/ana.26205en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed34459509en_US
bordeaux.journalAnnals of Neurologyen_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamVINTAGEen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03363623
hal.version1
hal.date.transferred2021-10-04T07:52:18Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
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