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Discovery of novel heart rate-associated loci using the Exome Chip

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dc.creatorvan den Berg, Marten E.spa
dc.creatorWarren, Helen R.spa
dc.creatorCabrera, Claudia P.spa
dc.creatorVerweij, Niekspa
dc.creatorMifsud, Borbalaspa
dc.creatorHaessler, Jeffreyspa
dc.creatorBihlmeyer, Nathan A.spa
dc.creatorFu, Yi-Pingspa
dc.creatorWeiss, Stefanspa
dc.creatorLin, Henry J.spa
dc.creatorGrarup, Nielsspa
dc.creatorLi-Gao, Ruifangspa
dc.creatorPistis, Giorgiospa
dc.creatorShah, Nabispa
dc.creatorBrody, Jennifer A.spa
dc.creatorMüller-Nurasyid, Martinaspa
dc.creatorLin, Honghuangspa
dc.creatorMei, Haospa
dc.creatorSmith, Albert V.spa
dc.creatorLyytikäinen, Leo-Pekkaspa
dc.creatorHall, Leanne M.spa
dc.creatorvan Setten, Jessicaspa
dc.creatorTrompet, Stellaspa
dc.creatorPrins, Bram P.spa
dc.creatorIsaacs, Aaronspa
dc.creatorRadmanesh, Faridspa
dc.creatorMarten, Jonathanspa
dc.creatorEntwistle, Aimanspa
dc.creatorKors, Jan A.spa
dc.creatorSilva, Claudia T.spa
dc.creatorAlonso, Alvarospa
dc.creatorBis, Joshua C.spa
dc.creatorde Boer, Rudolfspa
dc.creatorde Haan, Hugoline G.spa
dc.creatorde Mutsert, Renéespa
dc.creatorDedoussis, Georgespa
dc.creatorDominiczak, Anna F.spa
dc.creatorDoney, Alex S. F.spa
dc.creatorEllinor, Patrick T.spa
dc.creatorEppinga, Ruben N.spa
dc.creatorFelix, Stephan B.spa
dc.creatorGuo, Xiuqingspa
dc.creatorHagemeijer, Yanickspa
dc.creatorHansen, Torbenspa
dc.creatorHarris, Tamara B.spa
dc.creatorHeckbert, Susan R.spa
dc.creatorHuang, Paul L.spa
dc.creatorHwang, Shih-Jenspa
dc.creatorKähönen, Mikaspa
dc.creatorKanters, Jørgen K.spa
dc.creatorKolcic, Ivanaspa
dc.creatorLauner, Lenore J.spa
dc.creatorLi, Manspa
dc.creatorYao, Jiespa
dc.creatorLinneberg, Allanspa
dc.creatorLiu, Siminspa
dc.creatorMacfarlane, Peter W.spa
dc.creatorMangino, Massimospa
dc.creatorMorris, Andrew D.spa
dc.creatorMulas, Antonellaspa
dc.creatorMurray, Alison D.spa
dc.creatorNelson, Christopher P.spa
dc.creatorOrrú, Marcospa
dc.creatorPadmanabhan, Sandoshspa
dc.creatorPeters, Annettespa
dc.creatorPorteous, David J.spa
dc.creatorPoulter, Neilspa
dc.creatorPsaty, Bruce M.spa
dc.creatorQi, Lihongspa
dc.creatorRaitakari, Olli T.spa
dc.creatorRivadeneira, Fernandospa
dc.creatorRoselli, Carolinaspa
dc.creatorRudan, Igorspa
dc.creatorSattar, Naveedspa
dc.creatorSever, Peterspa
dc.creatorSinner, Moritz F.spa
dc.creatorSoliman, Elsayed Z.spa
dc.creatorSpector, Timothy D.spa
dc.creatorStanton, Alice V.spa
dc.creatorStirrups, Kathleen E.spa
dc.creatorTaylor, Kent D.spa
dc.creatorTobin, Martin D.spa
dc.creatorUitterlinden, Andréspa
dc.creatorVaartjes, Iloncaspa
dc.creatorHoes, Arno Wspa
dc.creatorvan der Meer, Peterspa
dc.creatorVölker, Uwespa
dc.creatorWaldenberger, Melaniespa
dc.creatorXie, Zhijunspa
dc.creatorZoledziewska, Magdalenaspa
dc.creatorTinker, Andrewspa
dc.creatorPolasek, Ozrenspa
dc.creatorRosand, Jonathanspa
dc.creatorJamshidi, Yaldaspa
dc.creatorvan Duijn, Cornelia M.spa
dc.creatorZeggini, Eleftheriaspa
dc.creatorJukema, J. Wouterspa
dc.creatorAsselbergs, Folkert W.spa
dc.creatorSamani, Nilesh J.spa
dc.creatorLehtimäki, Terhospa
dc.creatorGudnason, Vilmundurspa
dc.creatorWilson, Jamesspa
dc.creatorLubitz, Steven A.spa
dc.creatorKääb, Stefanspa
dc.creatorSotoodehnia, Nonaspa
dc.creatorCaulfield, Mark J.spa
dc.creatorPalmer, Colin N. A.spa
dc.creatorSanna, Serenaspa
dc.creatorMook-Kanamori, Dennis O.spa
dc.creatorDeloukas, Panosspa
dc.creatorPedersen, Olufspa
dc.creatorRotter, Jerome I.spa
dc.creatorDörr, Marcusspa
dc.creatorO'Donnell, Chris J.spa
dc.creatorHayward, Carolinespa
dc.creatorArking, Dan E.spa
dc.creatorKooperberg, Charlesspa
dc.creatorvan der Harst, Pimspa
dc.creatorEijgelsheim, Markspa
dc.creatorStricker, Bruno H.spa
dc.creatorMunroe, Patricia B.spa
dc.date.accessioned2020-06-11T13:20:56Z
dc.date.available2020-06-11T13:20:56Z
dc.date.created2017-06-15spa
dc.description.abstractResting heart rate is a heritable trait, and an increase in heart rate is associated with increased mortality risk. Genome-wide association study analyses have found loci associated with resting heart rate, at the time of our study these loci explained 0.9% of the variation. This study aims to discover new genetic loci associated with heart rate from Exome Chip meta-analyses. Heart rate was measured from either elecrtrocardiograms or pulse recordings. We meta-analysed heart rate association results from 104 452 European-ancestry individuals from 30 cohorts, genotyped using the Exome Chip. Twenty-four variants were selected for follow-up in an independent dataset (UK Biobank, N = 134 251). Conditional and gene-based testing was undertaken, and variants were investigated with bioinformatics methods.We discovered five novel heart rate loci, and one new independent low-frequency non-synonymous variant in an established heart rate locus (KIAA1755). Lead variants in four of the novel loci are non-synonymous variants in the genes C10orf71, DALDR3, TESK2 and SEC31B. The variant at SEC31B is significantly associated with SEC31B expression in heart and tibial nerve tissue. Further candidate genes were detected from long-range regulatory chromatin interactions in heart tissue (SCD, SLF2 and MAPK8). We observed significant enrichment in DNase I hypersensitive sites in fetal heart and lung. Moreover, enrichment was seen for the first time in human neuronal progenitor cells (derived from embryonic stem cells) and fetal muscle samples by including our novel variants.Our findings advance the knowledge of the genetic architecture of heart rate, and indicate new candidate genes for follow-up functional studies.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1093/hmg/ddx113
dc.identifier.issn0964-6906
dc.identifier.issn1460-2083
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24641
dc.language.isoeng
dc.publisherHuman Molecular Geneticsspa
dc.relation.citationIssueNo. 12
dc.relation.citationStartPageddx113
dc.relation.citationTitleHuman Molecular Genetics
dc.relation.citationVolumeVol. 26
dc.relation.ispartofHuman Molecular Genetics, ISSN: 0964-6906;1460-2083, Vol.26, No.12 (2017-06-15); pp. ddx113spa
dc.relation.urihttps://academic.oup.com/hmg/article-pdf/26/12/2346/17658020/ddx113.pdfspa
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.keywordAdultspa
dc.subject.keywordAllelesspa
dc.subject.keywordEuropean Continental Ancestry Groupspa
dc.subject.keywordExomespa
dc.subject.keywordFemalespa
dc.subject.keywordGene Frequencyspa
dc.subject.keywordGenetic Locispa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordGenome-Wide Association Studyspa
dc.subject.keywordGenotypespa
dc.subject.keywordHeart Ratespa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordMiddle Agedspa
dc.subject.keywordOligonucleotide Array Sequence Analysisspa
dc.subject.keywordPolymorphismspa
dc.subject.keywordSingle Nucleotidespa
dc.subject.keywordRisk Factorsspa
dc.titleDiscovery of novel heart rate-associated loci using the Exome Chipspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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