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dc.contributor.authorThorolfsdottir, Rosa B
dc.contributor.authorSveinbjornsson, Gardar
dc.contributor.authorSulem, Patrick
dc.contributor.authorNielsen, Jonas B.
dc.contributor.authorJonsson, Stefan
dc.contributor.authorHalldorsson, Gisli H
dc.contributor.authorMelsted, Pall
dc.contributor.authorIvarsdottir, Erna V
dc.contributor.authorDavidsson, Olafur B
dc.contributor.authorKristjansson, Ragnar P
dc.contributor.authorThorleifsson, Gudmar
dc.contributor.authorHelgadottir, Anna
dc.contributor.authorGretarsdottir, Solveig
dc.contributor.authorNorddahl, Gudmundur
dc.contributor.authorRajamani, Sridharan
dc.contributor.authorTorfason, Bjarni
dc.contributor.authorValgardsson, Atli S
dc.contributor.authorSverrisson, Jon T.
dc.contributor.authorTragante, Vinicius
dc.contributor.authorHolmen, Oddgeir Lingaas
dc.contributor.authorAsselbergs, Folkert W
dc.contributor.authorRoden, Dan M
dc.contributor.authorDarbar, Dawood
dc.contributor.authorPedersen, Terje Rolf
dc.contributor.authorSabatine, Marc S.
dc.contributor.authorWiller, Cristen J.
dc.contributor.authorLøchen, Maja-Lisa
dc.contributor.authorHalldorsson, Bjarni V
dc.contributor.authorJonsdottir, Ingileif
dc.contributor.authorHveem, Kristian
dc.contributor.authorArnar, David O
dc.contributor.authorThorsteinsdottir, Unnur
dc.contributor.authorGudbjartsson, Daniel F.
dc.contributor.authorHolm, Hilma
dc.contributor.authorStefansson, Kari
dc.date.accessioned2019-04-23T13:25:01Z
dc.date.available2019-04-23T13:25:01Z
dc.date.created2018-06-18T10:40:19Z
dc.date.issued2018
dc.identifier.citationCommunications Biology. 2018, 1 .nb_NO
dc.identifier.issn2399-3642
dc.identifier.urihttp://hdl.handle.net/11250/2595108
dc.description.abstractMost sequence variants identified hitherto in genome-wide association studies (GWAS) of atrial fibrillation are common, non-coding variants associated with risk through unknown mechanisms. We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with follow-up in samples from Norway and the US, focusing on low-frequency coding and splice variants aiming to identify causal genes. We observe associations with one missense (OR = 1.20) and one splice-donor variant (OR = 1.50) in RPL3L, the first ribosomal gene implicated in atrial fibrillation to our knowledge. Analysis of 167 RNA samples from the right atrium reveals that the splice-donor variant in RPL3L results in exon skipping. We also observe an association with a missense variant in MYZAP (OR = 1.38), encoding a component of the intercalated discs of cardiomyocytes. Both discoveries emphasize the close relationship between the mechanical and electrical function of the heart.nb_NO
dc.language.isoengnb_NO
dc.publisherNature Researchnb_NO
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleCoding variants in RPL3L and MYZAP increase risk of atrial fibrillationnb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.description.versionpublishedVersionnb_NO
dc.source.pagenumber9nb_NO
dc.source.volume1nb_NO
dc.source.journalCommunications Biologynb_NO
dc.identifier.doi10.1038/s42003-018-0068-9
dc.identifier.cristin1591807
dc.description.localcode© The Author(s) 2018. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License.nb_NO
cristin.unitcode194,65,20,0
cristin.unitcode194,65,20,15
cristin.unitnameInstitutt for samfunnsmedisin og sykepleie
cristin.unitnameHelseundersøkelsen i Nord-Trøndelag
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1


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Navngivelse 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse 4.0 Internasjonal