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A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process

dc.rights.licenseopenen_US
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTHIBORD, Florian
dc.contributor.authorHARDY, L.
dc.contributor.authorIBRAHIM-KOSTA, M.
dc.contributor.authorSAUT, N.
dc.contributor.authorPULCRANO-NICOLAS, A. S.
dc.contributor.authorGOUMIDI, L.
dc.contributor.authorCIVELEK, M.
dc.contributor.authorERIKSSON, P.
dc.contributor.authorDELEUZE, J. F.
dc.contributor.authorLE GOFF, W.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.contributor.authorMORANGE, P. E.
dc.date.accessioned2020-07-15T08:27:41Z
dc.date.available2020-07-15T08:27:41Z
dc.date.issued2019-07-04
dc.identifier.issn1538-7836en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/10473
dc.description.abstractEnBACKGROUND: Factor V (FV) is a circulating protein primarily synthesized in the liver, and mainly present in plasma. It is a major component of the coagulation process. OBJECTIVE: To detect novel genetic loci participating to the regulation of FV plasma levels. METHODS: We conducted the first Genome Wide Association Study on FV plasma levels in a sample of 510 individuals and replicated the main findings in an independent sample of 1156 individuals. RESULTS: In addition to genetic variations at the F5 locus, we identified novel associations at the PLXDC2 locus, with the lead PLXDC2 rs927826 polymorphism explaining ~3.7% (p = 7.5 x 10(-15) in the combined discovery and replication samples) of the variability of FV plasma levels. In silico transcriptomic analyses in various cell types confirmed that PLXDC2 expression is positively correlated to F5 expression. SiRNA experiments in human hepatocellular carcinoma cell line confirmed the role of PLXDC2 in modulating factor F5 gene expression, and revealed further influences on F2 and F10 expressions. CONCLUSION: Our study identified PLXDC2 as a new molecular player of the coagulation process. This article is protected by copyright. All rights reserved.
dc.language.isoENen_US
dc.subject.enVINTAGE
dc.title.enA Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process
dc.title.alternativeJ Thromb Haemosten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/jth.14562en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed31271701en_US
bordeaux.journalJournal of thrombosis and haemostasisen_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
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