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Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

dc.rights.licenseopenen_US
dc.contributor.authorZHENG, Sean L
dc.contributor.authorHENRY, Albert
dc.contributor.authorCANNIE, Douglas
dc.contributor.authorLEE, Michael
dc.contributor.authorMILLER, David
dc.contributor.authorMCGURK, Kathryn A
dc.contributor.authorBOND, Isabelle
dc.contributor.authorXU, Xiao
dc.contributor.authorISSA, Hanane
dc.contributor.authorFRANCIS, Catherine
dc.contributor.authorDE MARVAO, Antonio
dc.contributor.authorTHEOTOKIS, Pantazis I
dc.contributor.authorBUCHAN, Rachel J
dc.contributor.authorSPEED, Doug
dc.contributor.authorABNER, Erik
dc.contributor.authorADAMS, Lance
dc.contributor.authorARAGAM, Krishna G
dc.contributor.authorARNLOV, Johan
dc.contributor.authorRAJA, Anna Axelsson
dc.contributor.authorBACKMAN, Joshua D
dc.contributor.authorBAKSI, John
dc.contributor.authorBARTON, Paul J R
dc.contributor.authorBIDDINGER, Kiran J
dc.contributor.authorBOERSMA, Eric
dc.contributor.authorBRANDIMARTO, Jeffrey
dc.contributor.authorBRUNAK, Soren
dc.contributor.authorBUNDGAARD, Henning
dc.contributor.authorCAREY, David J
dc.contributor.authorCHARRON, Philippe
dc.contributor.authorCOOK, James P
dc.contributor.authorCOOK, Stuart A
dc.contributor.authorDENAXAS, Spiros
dc.contributor.authorDELEUZE, Jean-Francois
dc.contributor.authorDONEY, Alexander S
dc.contributor.authorELLIOTT, Perry
dc.contributor.authorERIKSTRUP, Christian
dc.contributor.authorESKO, Tonu
dc.contributor.authorFARBER-EGER, Eric H
dc.contributor.authorFINAN, Chris
dc.contributor.authorGARNIER, Sophie
dc.contributor.authorGHOUSE, Jonas
dc.contributor.authorGIEDRAITIS, Vilmantas
dc.contributor.authorGUETHBJARTSSON, Daniel F
dc.contributor.authorHAGGERTY, Christopher M
dc.contributor.authorHALLIDAY, Brian P
dc.contributor.authorHELGADOTTIR, Anna
dc.contributor.authorHEMINGWAY, Harry
dc.contributor.authorHILLEGE, Hans L
dc.contributor.authorKARDYS, Isabella
dc.contributor.authorLIND, Lars
dc.contributor.authorLINDGREN, Cecilia M
dc.contributor.authorLOWERY, Brandon D
dc.contributor.authorMANISTY, Charlotte
dc.contributor.authorMARGULIES, Kenneth B
dc.contributor.authorMOON, James C
dc.contributor.authorMORDI, Ify R
dc.contributor.authorMORLEY, Michael P
dc.contributor.authorMORRIS, Andrew D
dc.contributor.authorMORRIS, Andrew P
dc.contributor.authorMORTON, Lori
dc.contributor.authorNOURSADEGHI, Mahdad
dc.contributor.authorOSTROWSKI, Sisse R
dc.contributor.authorOWENS, Anjali T
dc.contributor.authorPALMER, Colin N A
dc.contributor.authorPANTAZIS, Antonis
dc.contributor.authorPEDERSEN, Ole B V
dc.contributor.authorPRASAD, Sanjay K
dc.contributor.authorSHEKHAR, Akshay
dc.contributor.authorSMELSER, Diane T
dc.contributor.authorSRINIVASAN, Sundararajan
dc.contributor.authorSTEFANSSON, Kari
dc.contributor.authorSVEINBJORNSSON, Garethar
dc.contributor.authorSYRRIS, Petros
dc.contributor.authorTAMMESOO, Mari-Liis
dc.contributor.authorTAYAL, Upasana
dc.contributor.authorTEDER-LAVING, Maris
dc.contributor.authorTHORGEIRSSON, Guethmundur
dc.contributor.authorTHORSTEINSDOTTIR, Unnur
dc.contributor.authorTRAGANTE, Vinicius
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTREGOUET, David-Alexandre
dc.contributor.authorTREIBEL, Thomas A
dc.contributor.authorULLUM, Henrik
dc.contributor.authorVALDES, Ana M
dc.contributor.authorVAN SETTEN, Jessica
dc.contributor.authorVAN VUGT, Marion
dc.contributor.authorVELUCHAMY, Abirami
dc.contributor.authorVERSCHUREN, W M Monique
dc.contributor.authorVILLARD, Eric
dc.contributor.authorYANG, Yifan
dc.contributor.authorASSELBERGS, Folkert W
dc.contributor.authorCAPPOLA, Thomas P
dc.contributor.authorDUBE, Marie-Pierre
dc.contributor.authorDUNN, Michael E
dc.contributor.authorELLINOR, Patrick T
dc.contributor.authorHINGORANI, Aroon D
dc.contributor.authorLANG, Chim C
dc.contributor.authorSAMANI, Nilesh J
dc.contributor.authorSHAH, Svati H
dc.contributor.authorSMITH, J Gustav
dc.contributor.authorVASAN, Ramachandran S
dc.contributor.authorO'REGAN, Declan P
dc.contributor.authorHOLM, Hilma
dc.contributor.authorNOSEDA, Michela
dc.contributor.authorWELLS, Quinn
dc.contributor.authorWARE, James S
dc.contributor.authorLUMBERS, R Thomas
dc.date.accessioned2024-12-19T09:36:34Z
dc.date.available2024-12-19T09:36:34Z
dc.date.issued2024-12-01
dc.identifier.issn1546-1718en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/204002
dc.description.abstractEnDilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation. We report a genome-wide association study and multi-trait analysis of DCM (14,256 cases) and three left ventricular traits (36,203 UK Biobank participants). We identified 80 genomic risk loci and prioritized 62 putative effector genes, including several with rare variant DCM associations (MAP3K7, NEDD4L and SSPN). Using single-nucleus transcriptomics, we identify cellular states, biological pathways, and intracellular communications that drive pathogenesis. We demonstrate that polygenic scores predict DCM in the general population and modify penetrance in carriers of rare DCM variants. Our findings may inform the design of genetic testing strategies that incorporate polygenic background. They also provide insights into the molecular etiology of DCM that may facilitate the development of targeted therapeutics.
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 analysis provides insights into the molecular etiology of dilated cardiomyopathy
dc.title.alternativeNat Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41588-024-01952-yen_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed39572783en_US
bordeaux.journalNature Geneticsen_US
bordeaux.page2646-2658en_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.funderIDBritish Heart Foundationen_US
bordeaux.identifier.funderIDWellcome Trusten_US
bordeaux.identifier.funderIDMedical Research Councilen_US
hal.identifierhal-04847830
hal.version1
hal.date.transferred2024-12-19T09:36:46Z
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=2024-12-01&rft.volume=56&rft.issue=12&rft.spage=2646-2658&rft.epage=2646-2658&rft.eissn=1546-1718&rft.issn=1546-1718&rft.au=ZHENG,%20Sean%20L&HENRY,%20Albert&CANNIE,%20Douglas&LEE,%20Michael&MILLER,%20David&rft.genre=article


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