Show simple item record

dc.contributor.authorOskarsson, Gudjon R
dc.contributor.authorKristjansson, Ragnar P
dc.contributor.authorLee, Amy L
dc.contributor.authorSveinbjornsson, Gardar
dc.contributor.authorMagnusson, Magnus K
dc.contributor.authorIvarsdottir, Erna V
dc.contributor.authorBenonisdottir, Stefania
dc.contributor.authorOddsson, Asmundur
dc.contributor.authorDavidsson, Olafur B
dc.contributor.authorSaemundsdottir, Jona
dc.contributor.authorHalldorsson, Gisli H
dc.contributor.authorArthur, Joseph
dc.contributor.authorArnadottir, Gudny A
dc.contributor.authorMasson, Gisli
dc.contributor.authorJensson, Brynjar O
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.accessioned2019-08-22T09:46:12Z
dc.date.available2019-08-22T09:46:12Z
dc.date.issued2018-01
dc.date.submitted2019-08
dc.identifier.citationA truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin. 2018 May 17;1:49. doi: 10.1038/s42003-018-0053-3. Commun Biol.en_US
dc.identifier.issn2399-3642
dc.identifier.pmid30271932
dc.identifier.doi10.1038/s42003-018-0053-3
dc.identifier.urihttp://hdl.handle.net/2336/621002
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.abstractThe cytokine erythropoietin (EPO), signalling through the EPO receptor (EPO-R), is essential for the formation of red blood cells. We performed a genome-wide association study (GWAS) testing 32.5 million sequence variants for association with serum EPO levels in a set of 4187 individuals. We detect an association between a rare and well imputed stop-gained variant rs370865377[A] (p.Gln82Ter) in EPOR, carried by 1 in 550 Icelanders, and increased serum EPO levels (MAF = 0.09%, Effect = 1.47 SD, P = 3.3 × 10-7). We validated these findings by measuring serum EPO levels in 34 additional pairs of carriers and matched controls and found carriers to have 3.23-fold higher EPO levels than controls (P = 1.7 × 10-6; Pcombined = 1.6 × 10-11). In contrast to previously reported EPOR mutations, p.Gln82Ter does not associate with haemoglobin levels (Effect = -0.045 SD, P = 0.32, N = 273,160), probably due to a compensatory EPO upregulation in response to EPO-R hypo-responsiveness.en_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.urlhttps://www.nature.com/articles/s42003-018-0053-3en_US
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123817/en_US
dc.titleA truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.en_US
dc.typeArticleen_US
dc.contributor.department1 deCODE genetics/Amgen, Inc, 101 Reykjavik, Iceland. 2 2Faculty of Medicine, University of Iceland, 101 Reykjavík, Iceland. 3 3School of Engineering and Natural Sciences, University of Iceland, 101 Reykjavík, Iceland. 4 4Department of Clinical Biochemistry, Landspítali University Hospital, 101 Reykjavik, Iceland. 5 5Department of Laboratory Hematology, Landspítali University Hospital, 101 Reykjavik, Iceland. # Contributed equallyen_US
dc.identifier.journalCommunications biologyen_US
dc.rights.accessOpen Access - Opinn aðganguren_US
dc.departmentcodeMAB12
dc.departmentcodeHEM12
dc.source.journaltitleCommunications biology
refterms.dateFOA2019-08-22T09:46:12Z


Files in this item

Thumbnail
Name:
A truncating ....pdf
Size:
1.214Mb
Format:
PDF

This item appears in the following Collection(s)

Show simple item record