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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.accessioned2019-05-09T08:33:22Z
dc.date.available2019-05-09T08:33:22Z
dc.date.issued2018-06-12
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.description.sponsorshipUK Biobank Resource Brigham and Women’s Hospital Amgen AstraZeneca Daiichi-Sankyo Eisai GlaxoSmithKline Intarcia Janssen Research and Development MedImmune Merck Novartis Pfizer Poxel Takeda Amgen CVS Caremark Esperion Intarcia Ionis Janssen Research and Development MedImmune Mercken_US
dc.descriptionSource at <a href=https://doi.org/10.1038/s42003-018-0068-9>https://doi.org/10.1038/s42003-018-0068-9. </a>en_US
dc.identifier.citationThorolfsdottir, R.B., Sveinbjornsson, G., Sulem, P., Nielsen, J.B., Jonsson, S., Halldorsson, G.H. ... Stefansson, K. (2018) Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation. <i>Communications Biology</i>, 1, 68. https://doi.org/10.1038/s42003-018-0068-9en_US
dc.identifier.cristinIDFRIDAID 1591807
dc.identifier.doi10.1038/s42003-018-0068-9
dc.identifier.issn2399-3642
dc.identifier.urihttps://hdl.handle.net/10037/15271
dc.language.isoengen_US
dc.publisherNature Researchen_US
dc.relation.journalCommunications Biology
dc.rights.accessRightsopenAccessen_US
dc.subjectVDP::Medical disciplines: 700::Health sciences: 800::Community medicine, Social medicine: 801en_US
dc.subjectVDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin, sosialmedisin: 801en_US
dc.titleCoding variants in RPL3L and MYZAP increase risk of atrial fibrillationen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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