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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

dc.rights.licenseopenen_US
dc.contributor.authorGEORGES, Adrien
dc.contributor.authorYANG, Min Lee
dc.contributor.authorBERRANDOU, Takiy Eddine
dc.contributor.authorBAKKER, Mark R.
dc.contributor.authorDIKILITAS, Ozan
dc.contributor.authorKIANDO, Soto Romuald
dc.contributor.authorMA, Lijiang
dc.contributor.authorSATTERFIELD, Benjamin A.
dc.contributor.authorSENGUPTA, Sebanti
dc.contributor.authorYU, Mengyao
dc.contributor.authorDELEUZE, Jean Francois
dc.contributor.authorDUPRE, Delia
dc.contributor.authorHUNKER, Kristina L.
dc.contributor.authorKYRYACHENKO, Sergiy
dc.contributor.authorLIU, Lu
dc.contributor.authorSAYOUD-SADEG, Ines
dc.contributor.authorAMAR, Laurence
dc.contributor.authorBRUMMETT, Chad M.
dc.contributor.authorCOLEMAN, Dawn M.
dc.contributor.authorD'ESCAMARD, Valentina
dc.contributor.authorDE LEEUW, Peter
dc.contributor.authorFENDRIKOVA-MAHLAY, Natalia
dc.contributor.authorKADIAN-DODOV, Daniella
dc.contributor.authorLI, Jun Z.
dc.contributor.authorLORTHIOIR, Aurelien
dc.contributor.authorPAPPACCOGLI, Marco
dc.contributor.authorPREJBISZ, Aleksander
dc.contributor.authorSMIGIELSKI, Witold
dc.contributor.authorSTANLEY, James C.
dc.contributor.authorZAWISTOWSKI, Matthew
dc.contributor.authorZHOU, Xiang
dc.contributor.authorZOLLNER, Sebastian
dc.contributor.authorINVESTIGATORS, Feiri
dc.contributor.authorINTERNATIONAL STROKE GENETICS CONSORTIUM INTRACRANIAL ANEURYSM WORKING, Group
dc.contributor.authorAMOUYEL, Philippe
dc.contributor.authorDE BUYZERE, Marc L.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEBETTE, Stephanie
dc.contributor.authorDOBROWOLSKI, Piotr
dc.contributor.authorDRYGAS, Wojciech
dc.contributor.authorGORNIK, Heather L.
dc.contributor.authorOLIN, Jeffrey W.
dc.contributor.authorPIWONSKI, Jerzy
dc.contributor.authorRIETZSCHEL, Ernst R.
dc.contributor.authorRUIGROK, Ynte M.
dc.contributor.authorVIKKULA, Miikka
dc.contributor.authorWARCHOL CELINSKA, Ewa
dc.contributor.authorJANUSZEWICZ, Andrzej
dc.contributor.authorKULLO, Iftikhar J.
dc.contributor.authorAZIZI, Michel
dc.contributor.authorJEUNEMAITRE, Xavier
dc.contributor.authorPERSU, Alexandre
dc.contributor.authorKOVACIC, Jason C.
dc.contributor.authorGANESH, Santhi K.
dc.contributor.authorBOUATIA-NAJI, Nabila
dc.date.accessioned2021-12-06T13:54:30Z
dc.date.available2021-12-06T13:54:30Z
dc.date.issued2021-10-15
dc.identifier.issn2041-1723en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/123993
dc.description.abstractEnFibromuscular dysplasia (FMD) is an arteriopathy associated with hypertension, stroke and myocardial infarction, affecting mostly women. We report results from the first genome-wide association meta-analysis of six studies including 1556 FMD cases and 7100 controls. We find an estimate of SNP-based heritability compatible with FMD having a polygenic basis, and report four robustly associated loci (PHACTR1, LRP1, ATP2B1, and LIMA1). Transcriptome-wide association analysis in arteries identifies one additional locus (SLC24A3). We characterize open chromatin in arterial primary cells and find that FMD associated variants are located in arterial-specific regulatory elements. Target genes are broadly involved in mechanisms related to actin cytoskeleton and intracellular calcium homeostasis, central to vascular contraction. We find significant genetic overlap between FMD and more common cardiovascular diseases and traits including blood pressure, migraine, intracranial aneurysm, and coronary artery disease.
dc.description.sponsorshipUniversité de Paris - ANR-18-IDEX-0001en_US
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.title.enGenetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41467-021-26174-2en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed34654805en_US
bordeaux.journalNature Communicationsen_US
bordeaux.page6031en_US
bordeaux.volume12en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamVINTAGEen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDEuropean Research Councilen_US
bordeaux.identifier.funderIDAssistance Publique - Hôpitaux de Parisen_US
bordeaux.identifier.funderIDMinistère des Solidarités et de la Santéen_US
hal.identifierhal-03467392
hal.version1
hal.date.transferred2021-12-06T13:54:37Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature%20Communications&rft.date=2021-10-15&rft.volume=12&rft.issue=1&rft.spage=6031&rft.epage=6031&rft.eissn=2041-1723&rft.issn=2041-1723&rft.au=GEORGES,%20Adrien&YANG,%20Min%20Lee&BERRANDOU,%20Takiy%20Eddine&BAKKER,%20Mark%20R.&DIKILITAS,%20Ozan&rft.genre=article


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