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dc.contributor.authorOskarsson, Gudjon R
dc.contributor.authorOddsson, Asmundur
dc.contributor.authorMagnusson, Magnus K
dc.contributor.authorKristjansson, Ragnar P
dc.contributor.authorHalldorsson, Gisli H
dc.contributor.authorFerkingstad, Egil
dc.contributor.authorZink, Florian
dc.contributor.authorHelgadottir, Anna
dc.contributor.authorIvarsdottir, Erna V
dc.contributor.authorArnadottir, Gudny A
dc.contributor.authorJensson, Brynjar O
dc.contributor.authorKatrinardottir, Hildigunnur
dc.contributor.authorSveinbjornsson, Gardar
dc.contributor.authorKristinsdottir, Anna M
dc.contributor.authorLee, Amy L
dc.contributor.authorSaemundsdottir, Jona
dc.contributor.authorStefansdottir, Lilja
dc.contributor.authorSigurdsson, Jon K
dc.contributor.authorDavidsson, Olafur B
dc.contributor.authorBenonisdottir, Stefania
dc.contributor.authorJonasdottir, Aslaug
dc.contributor.authorJonasdottir, Adalbjorg
dc.contributor.authorJonsson, Stefan
dc.contributor.authorGudmundsson, Reynir L
dc.contributor.authorAsselbergs, Folkert W
dc.contributor.authorTragante, Vinicius
dc.contributor.authorGunnarsson, Bjarni
dc.contributor.authorMasson, Gisli
dc.contributor.authorThorleifsson, Gudmar
dc.contributor.authorRafnar, Thorunn
dc.contributor.authorHolm, Hilma
dc.contributor.authorOlafsson, Isleifur
dc.contributor.authorOnundarson, Pall T
dc.contributor.authorGudbjartsson, Daniel F
dc.contributor.authorNorddahl, Gudmundur L
dc.contributor.authorThorsteinsdottir, Unnur
dc.contributor.authorSulem, Patrick
dc.contributor.authorStefansson, Kari
dc.date.accessioned2020-05-27T10:53:22Z
dc.date.available2020-05-27T10:53:22Z
dc.date.issued2020-04-23
dc.date.submitted2020-05
dc.identifier.citationOskarsson GR, Oddsson A, Magnusson MK, et al. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis. Commun Biol. 2020;3(1):189. Published 2020 Apr 23. doi:10.1038/s42003-020-0921-5en_US
dc.identifier.pmid32327693
dc.identifier.doi10.1038/s42003-020-0921-5
dc.identifier.urihttp://hdl.handle.net/2336/621419
dc.descriptionTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Downloaden_US
dc.description.abstractHemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of hemoglobin concentration using a combined set of 684,122 individuals from Iceland and the UK. Notably, we found seven novel variants, six rare coding and one common, at the ACO1 locus associating with either decreased or increased hemoglobin concentration. Of these variants, the missense Cys506Ser and the stop-gained Lys334Ter mutations are specific to eight and ten generation pedigrees, respectively, and have the two largest effects in the study (EffectCys506Ser = -1.61 SD, CI95 = [-1.98, -1.35]; EffectLys334Ter = 0.63 SD, CI95 = [0.36, 0.91]). We also find Cys506Ser to associate with increased risk of persistent anemia (OR = 17.1, P = 2 × 10-14). The strong bidirectional effects seen in this study implicate ACO1, a known iron sensing molecule, as a major homeostatic regulator of hemoglobin concentration.en_US
dc.description.sponsorshipUCL Hospitals NIHR Biomedical Research Centreen_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.urlhttps://www.nature.com/articles/s42003-020-0921-5en_US
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181819/en_US
dc.subject.meshErythropoiesisen_US
dc.subject.meshGenome-Wide Association Studyen_US
dc.titlePredicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.en_US
dc.typeArticleen_US
dc.identifier.eissn2399-3642
dc.contributor.department1deCODE genetics/Amgen Inc., Reykjavik, Iceland. 2Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 3Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. 4Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, UK. 5Health Data Research UK and Institute of Health Informatics, University College London, London, UK. 6Department of Clinical Biochemistry, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland. 7Department of Laboratory Hematology, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland. 8School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 9deCODE genetics/Amgen Inc., Reykjavik, Iceland. patrick.sulem@decode.is. 10deCODE genetics/Amgen Inc., Reykjavik, Iceland. kstefans@decode.is. 11Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. kstefans@decode.is.en_US
dc.identifier.journalCommunications biologyen_US
dc.rights.accessOpen Access - Opinn aðganguren_US
dc.departmentcodeMAB12
dc.departmentcodeHEM12
dc.source.journaltitleCommunications biology
dc.source.volume3
dc.source.issue1
dc.source.beginpage189
dc.source.endpage
refterms.dateFOA2020-05-27T10:53:23Z
dc.source.countryEngland


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