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dc.date.accessioned2019-04-04T15:31:01Z
dc.date.available2019-04-04T15:31:01Z
dc.date.created2018-06-18T10:40:19Z
dc.date.issued2018
dc.identifier.citationThorolfsdottir, Rosa B Sveinbjornsson, Gardar Sulem, Patrick Nielsen, Jonas B. Jonsson, Stefan Halldorsson, Gisli H Melsted, Pall Ivarsdottir, Erna V Davidsson, Olafur B Kristjansson, Ragnar P Thorleifsson, Gudmar Helgadottir, Anna Gretarsdottir, Solveig Norddahl, Gudmundur Rajamani, Sridharan Torfason, Bjarni Valgardsson, Atli S Sverrisson, Jon T. Tragante, Vinicius Holmen, Oddgeir Lingaas Asselbergs, Folkert W Roden, Dan M Darbar, Dawood Pedersen, Terje Rolf Sabatine, Marc S. Willer, Cristen J. Løchen, Maja-Lisa Halldorsson, Bjarni V Jonsdottir, Ingileif Hveem, Kristian Arnar, David O Thorsteinsdottir, Unnur Gudbjartsson, Daniel F. Holm, Hilma Stefansson, Kari . Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation. Communications Biology. 2018, 1
dc.identifier.urihttp://hdl.handle.net/10852/67557
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.en_US
dc.languageEN
dc.publisherNature Research
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleCoding variants in RPL3L and MYZAP increase risk of atrial fibrillationen_US
dc.typeJournal articleen_US
dc.creator.authorThorolfsdottir, Rosa B
dc.creator.authorSveinbjornsson, Gardar
dc.creator.authorSulem, Patrick
dc.creator.authorNielsen, Jonas B.
dc.creator.authorJonsson, Stefan
dc.creator.authorHalldorsson, Gisli H
dc.creator.authorMelsted, Pall
dc.creator.authorIvarsdottir, Erna V
dc.creator.authorDavidsson, Olafur B
dc.creator.authorKristjansson, Ragnar P
dc.creator.authorThorleifsson, Gudmar
dc.creator.authorHelgadottir, Anna
dc.creator.authorGretarsdottir, Solveig
dc.creator.authorNorddahl, Gudmundur
dc.creator.authorRajamani, Sridharan
dc.creator.authorTorfason, Bjarni
dc.creator.authorValgardsson, Atli S
dc.creator.authorSverrisson, Jon T.
dc.creator.authorTragante, Vinicius
dc.creator.authorHolmen, Oddgeir Lingaas
dc.creator.authorAsselbergs, Folkert W
dc.creator.authorRoden, Dan M
dc.creator.authorDarbar, Dawood
dc.creator.authorPedersen, Terje Rolf
dc.creator.authorSabatine, Marc S.
dc.creator.authorWiller, Cristen J.
dc.creator.authorLøchen, Maja-Lisa
dc.creator.authorHalldorsson, Bjarni V
dc.creator.authorJonsdottir, Ingileif
dc.creator.authorHveem, Kristian
dc.creator.authorArnar, David O
dc.creator.authorThorsteinsdottir, Unnur
dc.creator.authorGudbjartsson, Daniel F.
dc.creator.authorHolm, Hilma
dc.creator.authorStefansson, Kari
cristin.unitcode185,0,0,0
cristin.unitnameUniversitetet i Oslo
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1
dc.identifier.cristin1591807
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Communications Biology&rft.volume=1&rft.spage=&rft.date=2018
dc.identifier.jtitleCommunications Biology
dc.identifier.volume1
dc.identifier.pagecount9
dc.identifier.doihttp://dx.doi.org/10.1038/s42003-018-0068-9
dc.identifier.urnURN:NBN:no-70733
dc.type.documentTidsskriftartikkelen_US
dc.type.peerreviewedPeer reviewed
dc.source.issn2399-3642
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/67557/2/article24851.pdf
dc.type.versionPublishedVersion
cristin.articleid68 (2018)


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