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Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram

dc.creatorVerweij, Niekspa
dc.creatorMateo Leach, Irenespa
dc.creatorIsaacs, Aaronspa
dc.creatorArkin, Dan E.spa
dc.creatorSilva, Claudia T.spa
dc.date.accessioned2020-08-19T14:41:07Z
dc.date.available2020-08-19T14:41:07Z
dc.date.created2016-03-08spa
dc.description.abstractThe ST-segment and adjacent T-wave (ST-T wave) amplitudes of the electrocardiogram are quantitative characteristics of cardiac repolarization. Repolarization abnormalities have been linked to ventricular arrhythmias and sudden cardiac death. We performed the first genome-wide association meta-analysis of ST-T-wave amplitudes in up to 37 977 individuals identifying 71 robust genotype–phenotype associations clustered within 28 independent loci. Fifty-four genes were prioritized as candidates underlying the phenotypes, including genes with established roles in the cardiac repolarization phase (SCN5A/SCN10A, KCND3, KCNB1, NOS1AP and HEY2) and others with as yet undefined cardiac function. These associations may provide insights in the spatiotemporal contribution of genetic variation influencing cardiac repolarization and provide novel leads for future functional follow-up.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1093/hmg/ddw058
dc.identifier.issnISSN: 0964-6906
dc.identifier.issnEISSN: 1460-2083
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/27140
dc.language.isoengspa
dc.publisherOxford University Pressspa
dc.relation.citationEndPage2103
dc.relation.citationIssueNo. 10
dc.relation.citationStartPage2093
dc.relation.citationTitleHuman Molecular Genetics
dc.relation.citationVolumeVol. 25
dc.relation.ispartofHuman Molecular Genetics, ISSN: 0964-6906;EISSN: 1460-2083, Vol.25, No.10 (15 May 2016); pp. 2093–2103spa
dc.relation.urihttps://academic.oup.com/hmg/article/25/10/2093/2236414spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.sourceHuman Molecular Geneticsspa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subject.keywordPhenotypespa
dc.subject.keywordelectrocardiogramspa
dc.subject.keywordST segmentspa
dc.subject.keywordSudden cardiac deathspa
dc.subject.keywordT wave featurespa
dc.subject.keywordFollow-upspa
dc.subject.keywordGenesspa
dc.subject.keywordGenomespa
dc.subject.keywordSinglespa
dc.subject.keywordNucleotide polymorphismspa
dc.subject.keywordGeneticsspa
dc.subject.keywordHeart ventricular arrhythmiaspa
dc.subject.keywordCardiac functionspa
dc.subject.keywordScn5aspa
dc.subject.keywordGenespa
dc.subject.keywordGenotype-phenotypespa
dc.subject.keywordAssociationspa
dc.subject.keywordSnos1ap genespa
dc.subject.keywordScn10a genespa
dc.subject.keywordImputationspa
dc.titleTwenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogramspa
dc.title.TranslatedTitleVeintiocho loci genéticos asociados con amplitudes de onda ST-T del electrocardiogramaspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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