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52 Genetic Loci Influencing Myocardial Mass

dc.creatorvan der Harst, Pimspa
dc.creatorvan Setten, Jessicaspa
dc.creatorVerweij, Niekspa
dc.creatorVogler, Georgspa
dc.creatorFranke, Ludespa
dc.creatorMaurano, Matthew T.spa
dc.creatorWang, Xinchenspa
dc.creatorLeach, Irene Mateospa
dc.creatorEijgelsheim, Markspa
dc.creatorSotoodehnia, Nonaspa
dc.creatorHayward, Carolinespa
dc.creatorSorice, Rossellaspa
dc.creatorMeirelles, Osoriospa
dc.creatorLyytikäinen, Leo-Pekkaspa
dc.creatorPolašek, Ozrenspa
dc.creatorTanaka, Toshikospa
dc.creatorArking, Dan E.spa
dc.creatorUlivi, Sheilaspa
dc.creatorTrompet, Stellaspa
dc.creatorMüller-Nurasyid, Martinaspa
dc.creatorSmith, Albert V.spa
dc.creatorDörr, Marcusspa
dc.creatorKerr, Kathleen F.spa
dc.creatorMagnani, Jared W.spa
dc.creatorDel Greco M., Fabiolaspa
dc.creatorZhang, Weihuaspa
dc.creatorNolte, Ilja M.spa
dc.creatorSilva, Claudia T.spa
dc.creatorPadmanabhan, Sandoshspa
dc.creatorTragante, Viniciusspa
dc.creatorEsko, Tõnuspa
dc.creatorAbecasis, Gonçalo R.spa
dc.creatorAdriaens, Michiel E.spa
dc.creatorAndersen, Karlspa
dc.creatorBarnett, Philspa
dc.creatorBis, Joshua C.spa
dc.creatorBodmer, Rolfspa
dc.creatorBuckley, Brendan M.spa
dc.creatorCampbell, Harryspa
dc.creatorCannon, Megan V.spa
dc.creatorChakravarti, Aravindaspa
dc.creatorChen, Lin Y.spa
dc.creatorDelitala, Alessandrospa
dc.creatorDevereux, Richard B.spa
dc.creatorDoevendans, Pieter A.spa
dc.creatorDominiczak, Anna F.spa
dc.creatorFerrucci, Luigispa
dc.creatorFord, Ianspa
dc.creatorGieger, Christianspa
dc.creatorHarris, Tamara B.spa
dc.creatorHaugen, Ericspa
dc.creatorHeinig, Matthiasspa
dc.creatorHernandez, Dena G.spa
dc.creatorHillege, Hans L.spa
dc.creatorHirschhorn, Joel N.spa
dc.creatorHofman, Albertspa
dc.creatorHubner, Norbertspa
dc.creatorHwang, Shih-Jenspa
dc.creatorIorio, Annamariaspa
dc.creatorKähönen, Mikaspa
dc.creatorKellis, Manolisspa
dc.creatorKolcic, Ivanaspa
dc.creatorKooner, Ishminder K.spa
dc.creatorKooner, Jaspal S.spa
dc.creatorKors, Jan A.spa
dc.creatorLakatta, Edward G.spa
dc.creatorLage, Kasperspa
dc.creatorLauner, Lenore J.spa
dc.creatorLevy, Danielspa
dc.creatorLundby, Aliciaspa
dc.creatorMacfarlane, Peter W.spa
dc.creatorMay, Dalitspa
dc.creatorMeitinger, Thomasspa
dc.creatorMetspalu, Andresspa
dc.creatorNappo, Stefaniaspa
dc.creatorNaitza, Silviaspa
dc.creatorNeph, Shanespa
dc.creatorNord, Alex S.spa
dc.creatorNutile, Teresaspa
dc.creatorOkin, Peter M.spa
dc.creatorOlsen, Jesper V.spa
dc.creatorOostra, Ben A.spa
dc.creatorPenninger, Josef M.spa
dc.creatorPennacchio, Len A.spa
dc.creatorPers, Tune H.spa
dc.creatorPerz, Siegfriedspa
dc.creatorPeters, Annettespa
dc.creatorPinto, Yigal M.spa
dc.creatorPfeufer, Arnespa
dc.creatorPilia, Maria Graziaspa
dc.creatorPramstaller, Peter P.spa
dc.creatorPrins, Bram P.spa
dc.creatorRaitakari, Olli T.spa
dc.creatorRaychaudhuri, Soumyaspa
dc.creatorRice, Ken M.spa
dc.creatorRossin, Elizabeth J.spa
dc.creatorRotter, Jerome I.spa
dc.creatorSchafer, Sebastianspa
dc.creatorSchlessinger, Davidspa
dc.creatorSchmidt, Carsten O.spa
dc.creatorSehmi, Jobanpreetspa
dc.creatorSilljé, Herman H.W.spa
dc.creatorSinagra, Gianfrancospa
dc.creatorSinner, Moritz F.spa
dc.creatorSlowikowski, Kamilspa
dc.creatorSoliman, Elsayed Z.spa
dc.creatorSpector, Timothy D.spa
dc.creatorSpiering, Wilkospa
dc.creatorStamatoyannopoulos, John A.spa
dc.creatorStolk, Ronald P.spa
dc.creatorStrauch, Konstantinspa
dc.creatorTan, Sian-Tsungspa
dc.creatorTarasov, Kirill V.spa
dc.creatorTrinh, Boscospa
dc.creatorUitterlinden, Andre G.spa
dc.creatorvan den Boogaard, Malouspa
dc.creatorvan Duijn, Cornelia M.spa
dc.creatorvan Gilst, Wiek H.spa
dc.creatorViikari, Jorma S.spa
dc.creatorVisscher, Peter M.spa
dc.creatorVitart, Veroniquespa
dc.creatorVölker, Uwespa
dc.creatorWaldenberger, Melaniespa
dc.creatorWeichenberger, Christian X.spa
dc.creatorWestra, Harm-Janspa
dc.creatorWijmenga, Ciscaspa
dc.creatorWolffenbuttel, Bruce H.spa
dc.creatorYang, Jianspa
dc.creatorBezzina, Connie R.spa
dc.creatorMunroe, Patricia B.spa
dc.creatorSnieder, Haroldspa
dc.creatorWright, Alan F.spa
dc.creatorRudan, Igorspa
dc.creatorBoyer, Laurie A.spa
dc.creatorAsselbergs, Folkert W.spa
dc.creatorvan Veldhuisen, Dirk J.spa
dc.creatorStricker, Bruno H.spa
dc.creatorPsaty, Bruce M.spa
dc.creatorCiullo, Marinaspa
dc.creatorSanna, Serenaspa
dc.creatorLehtimäki, Terhospa
dc.creatorWilson, James F.spa
dc.creatorBandinelli, Stefaniaspa
dc.creatorAlonso, Alvarospa
dc.creatorGasparini, Paolospa
dc.creatorJukema, J. Wouterspa
dc.creatorKääb, Stefanspa
dc.creatorGudnason, Vilmundurspa
dc.creatorFelix, Stephan B.spa
dc.creatorHeckbert, Susan R.spa
dc.creatorde Boer, Rudolf A.spa
dc.creatorNewton-Cheh, Christopherspa
dc.creatorHicks, Andrew A.spa
dc.creatorChambers, John C.spa
dc.creatorJamshidi, Yaldaspa
dc.creatorVisel, Axelspa
dc.creatorChristoffels, Vincent M.spa
dc.creatorIsaacs, Aaronspa
dc.creatorSamani, Nilesh J.spa
dc.creatorde Bakker, Paul I.W.spa
dc.date.accessioned2020-05-25T23:56:38Z
dc.date.available2020-05-25T23:56:38Z
dc.date.created2016spa
dc.description.abstractBackground Myocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle contraction is reflected by the amplitude and duration of the QRS complex on the electrocardiogram (ECG). Abnormal QRS amplitude or duration reflect changes in myocardial mass and conduction, and are associated with increased risk of heart failure and death. Objectives This meta-analysis sought to gain insights into the genetic determinants of myocardial mass. Methods We carried out a genome-wide association meta-analysis of 4 QRS traits in up to 73,518 individuals of European ancestry, followed by extensive biological and functional assessment. Results We identified 52 genomic loci, of which 32 are novel, that are reliably associated with 1 or more QRS phenotypes at p  and lt; 1 × 10?8. These loci are enriched in regions of open chromatin, histone modifications, and transcription factor binding, suggesting that they represent regions of the genome that are actively transcribed in the human heart. Pathway analyses provided evidence that these loci play a role in cardiac hypertrophy. We further highlighted 67 candidate genes at the identified loci that are preferentially expressed in cardiac tissue and associated with cardiac abnormalities in Drosophila melanogaster and Mus musculus. We validated the regulatory function of a novel variant in the SCN5A/SCN10A locus in vitro and in vivo. Conclusions Taken together, our findings provide new insights into genes and biological pathways controlling myocardial mass and may help identify novel therapeutic targets. © 2016 American College of Cardiology Foundationeng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.jacc.2016.07.729
dc.identifier.issn7351097
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22473
dc.language.isoengspa
dc.publisherElsevier USAspa
dc.relation.citationEndPage1448
dc.relation.citationIssueNo. 13
dc.relation.citationStartPage1435
dc.relation.citationTitleJournal of the American College of Cardiology
dc.relation.citationVolumeVol. 68
dc.relation.ispartofJournal of the American College of Cardiology, ISSN:7351097, Vol.68, No.13 (2016); pp. 1435-1448spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84990929556&doi=10.1016%2fj.jacc.2016.07.729&partnerID=40&md5=0511f855741ba4e9e70d03da7b3e1622spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordSodium channel Nav1.5spa
dc.subject.keywordSodium channel Nav1.8spa
dc.subject.keywordTranscription factorspa
dc.subject.keywordArticlespa
dc.subject.keywordBiological functionsspa
dc.subject.keywordCardiac musclespa
dc.subject.keywordCardiovascular parametersspa
dc.subject.keywordChromatinspa
dc.subject.keywordDrosophila melanogasterspa
dc.subject.keywordEuropeanspa
dc.subject.keywordFunctional assessmentspa
dc.subject.keywordGene identificationspa
dc.subject.keywordGene locusspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic parametersspa
dc.subject.keywordGenetic traitspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenome-wide association studyspa
dc.subject.keywordHeartspa
dc.subject.keywordHeart ventricle hypertrophyspa
dc.subject.keywordHistone modificationspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman genomespa
dc.subject.keywordIn vitro studyspa
dc.subject.keywordIn vivo studyspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMeta analysis (topic)spa
dc.subject.keywordMus musculusspa
dc.subject.keywordMyocardial massspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPriority journalspa
dc.subject.keywordProtein bindingspa
dc.subject.keywordQRS complexspa
dc.subject.keywordReliabilityspa
dc.subject.keywordSCN10A genespa
dc.subject.keywordSCN5A genespa
dc.subject.keywordValidation studyspa
dc.subject.keywordAnimalspa
dc.subject.keywordCardiomegalyspa
dc.subject.keywordGeneticsspa
dc.subject.keywordGenome-wide association studyspa
dc.subject.keywordAnimalsspa
dc.subject.keywordCardiomegalyspa
dc.subject.keywordGenetic Locispa
dc.subject.keywordGenome-Wide Association Studyspa
dc.subject.keywordHumansspa
dc.subject.keywordElectrocardiogramspa
dc.subject.keywordGenetic association studyspa
dc.subject.keywordHeart failurespa
dc.subject.keywordLeft ventricular hypertrophyspa
dc.subject.keywordQRSspa
dc.title52 Genetic Loci Influencing Myocardial Massspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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