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Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

dc.rights.licenseopenen_US
dc.contributor.authorJURGENS, Sean J
dc.contributor.authorRAMO, Joel T
dc.contributor.authorKRAMARENKO, Daria R
dc.contributor.authorWIJDEVELD, Leonoor F J M
dc.contributor.authorHAAS, Jan
dc.contributor.authorCHAFFIN, Mark D
dc.contributor.authorGARNIER, Sophie
dc.contributor.authorGAZIANO, Liam
dc.contributor.authorWENG, Lu-Chen
dc.contributor.authorLIPOV, Alex
dc.contributor.authorZHENG, Sean L
dc.contributor.authorHENRY, Albert
dc.contributor.authorHUFFMAN, Jennifer E
dc.contributor.authorCHALLA, Saketh
dc.contributor.authorRUHLE, Frank
dc.contributor.authorVERDUGO, Carmen Diaz
dc.contributor.authorKRIJGER JUAREZ, Christian
dc.contributor.authorKANY, Shinwan
dc.contributor.authorVAN ORSOUW, Constance A
dc.contributor.authorBIDDINGER, Kiran
dc.contributor.authorPOEL, Edwin
dc.contributor.authorELLIOTT, Amanda L
dc.contributor.authorWANG, Xin
dc.contributor.authorFRANCIS, Catherine
dc.contributor.authorRUAN, Richard
dc.contributor.authorKOYAMA, Satoshi
dc.contributor.authorBEEKMAN, Leander
dc.contributor.authorZIMMERMAN, Dominic S
dc.contributor.authorDELEUZE, Jean-Francois
dc.contributor.authorVILLARD, Eric
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.contributor.authorISNARD, Richard
dc.contributor.authorBOOMSMA, Dorret I
dc.contributor.authorDE GEUS, Eco J C
dc.contributor.authorTADROS, Rafik
dc.contributor.authorPINTO, Yigal M
dc.contributor.authorWILDE, Arthur A M
dc.contributor.authorHOTTENGA, Jouke-Jan
dc.contributor.authorSINISALO, Juha
dc.contributor.authorNIIRANEN, Teemu
dc.contributor.authorWALSH, Roddy
dc.contributor.authorSCHMIDT, Amand F
dc.contributor.authorCHOI, Seung Hoan
dc.contributor.authorCHANG, Kyong-Mi
dc.contributor.authorTSAO, Philip S
dc.contributor.authorMATTHEWS, Paul M
dc.contributor.authorWARE, James S
dc.contributor.authorLUMBERS, R Thomas
dc.contributor.authorVAN DER CRABBEN, Saskia
dc.contributor.authorLAUKKANEN, Jari
dc.contributor.authorPALOTIE, Aarno
dc.contributor.authorAMIN, Ahmad S
dc.contributor.authorCHARRON, Philippe
dc.contributor.authorMEDER, Benjamin
dc.contributor.authorELLINOR, Patrick T
dc.contributor.authorDALY, Mark
dc.contributor.authorARAGAM, Krishna G
dc.contributor.authorBEZZINA, Connie R
dc.date.accessioned2024-12-13T13:21:23Z
dc.date.available2024-12-13T13:21:23Z
dc.date.issued2024-11-21
dc.identifier.issn1546-1718en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/203935
dc.description.abstractEnDilated cardiomyopathy (DCM) is a heart muscle disease that represents an important cause of morbidity and mortality, yet causal mechanisms remain largely elusive. Here, we perform a large-scale genome-wide association study and multitrait analysis for DCM using 9,365 cases and 946,368 controls. We identify 70 genome-wide significant loci, which show broad replication in independent samples and map to 63 prioritized genes. Tissue, cell type and pathway enrichment analyses highlight the central role of the cardiomyocyte and contractile apparatus in DCM pathogenesis. Polygenic risk scores constructed from our genome-wide association study predict DCM across different ancestry groups, show differing contributions to DCM depending on rare pathogenic variant status and associate with systolic heart failure across various clinical settings. Mendelian randomization analyses reveal actionable potential causes of DCM, including higher bodyweight and higher systolic blood pressure. Our findings provide insights into the genetic architecture and mechanisms underlying DCM and myocardial function more broadly.
dc.description.sponsorshipMedical Genomics - ANR-10-LABX-0013en_US
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.title.enGenome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience
dc.title.alternativeNat Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41588-024-01975-5en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed39572784en_US
bordeaux.journalNature Geneticsen_US
bordeaux.page2636-2645en_US
bordeaux.volume56en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue12en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamELEANOR_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDNational Institutes of Healthen_US
hal.identifierhal-04836522
hal.version1
hal.date.transferred2024-12-13T13:21:35Z
hal.popularnonen_US
hal.audienceInternationaleen_US
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%20Genetics&rft.date=2024-11-21&rft.volume=56&rft.issue=12&rft.spage=2636-2645&rft.epage=2636-2645&rft.eissn=1546-1718&rft.issn=1546-1718&rft.au=JURGENS,%20Sean%20J&RAMO,%20Joel%20T&KRAMARENKO,%20Daria%20R&WIJDEVELD,%20Leonoor%20F%20J%20M&HAAS,%20Jan&rft.genre=article


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