dc.contributor.author | Thorolfsdottir, Rosa B | |
dc.contributor.author | Sveinbjornsson, Gardar | |
dc.contributor.author | Sulem, Patrick | |
dc.contributor.author | Nielsen, Jonas B. | |
dc.contributor.author | Jonsson, Stefan | |
dc.contributor.author | Halldorsson, Gisli H | |
dc.contributor.author | Melsted, Pall | |
dc.contributor.author | Ivarsdottir, Erna V | |
dc.contributor.author | Davidsson, Olafur B | |
dc.contributor.author | Kristjansson, Ragnar P | |
dc.contributor.author | Thorleifsson, Gudmar | |
dc.contributor.author | Helgadottir, Anna | |
dc.contributor.author | Gretarsdottir, Solveig | |
dc.contributor.author | Norddahl, Gudmundur | |
dc.contributor.author | Rajamani, Sridharan | |
dc.contributor.author | Torfason, Bjarni | |
dc.contributor.author | Valgardsson, Atli S | |
dc.contributor.author | Sverrisson, Jon T. | |
dc.contributor.author | Tragante, Vinicius | |
dc.contributor.author | Holmen, Oddgeir Lingaas | |
dc.contributor.author | Asselbergs, Folkert W | |
dc.contributor.author | Roden, Dan M | |
dc.contributor.author | Darbar, Dawood | |
dc.contributor.author | Pedersen, Terje Rolf | |
dc.contributor.author | Sabatine, Marc S. | |
dc.contributor.author | Willer, Cristen J. | |
dc.contributor.author | Løchen, Maja-Lisa | |
dc.contributor.author | Halldorsson, Bjarni V | |
dc.contributor.author | Jonsdottir, Ingileif | |
dc.contributor.author | Hveem, Kristian | |
dc.contributor.author | Arnar, David O | |
dc.contributor.author | Thorsteinsdottir, Unnur | |
dc.contributor.author | Gudbjartsson, Daniel F. | |
dc.contributor.author | Holm, Hilma | |
dc.contributor.author | Stefansson, Kari | |
dc.date.accessioned | 2019-04-23T13:25:01Z | |
dc.date.available | 2019-04-23T13:25:01Z | |
dc.date.created | 2018-06-18T10:40:19Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Communications Biology. 2018, 1 . | nb_NO |
dc.identifier.issn | 2399-3642 | |
dc.identifier.uri | http://hdl.handle.net/11250/2595108 | |
dc.description.abstract | Most 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.iso | eng | nb_NO |
dc.publisher | Nature Research | nb_NO |
dc.rights | Navngivelse 4.0 Internasjonal | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/deed.no | * |
dc.title | Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation | nb_NO |
dc.type | Journal article | nb_NO |
dc.type | Peer reviewed | nb_NO |
dc.description.version | publishedVersion | nb_NO |
dc.source.pagenumber | 9 | nb_NO |
dc.source.volume | 1 | nb_NO |
dc.source.journal | Communications Biology | nb_NO |
dc.identifier.doi | 10.1038/s42003-018-0068-9 | |
dc.identifier.cristin | 1591807 | |
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.unitcode | 194,65,20,0 | |
cristin.unitcode | 194,65,20,15 | |
cristin.unitname | Institutt for samfunnsmedisin og sykepleie | |
cristin.unitname | Helseundersøkelsen i Nord-Trøndelag | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |