A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Gudjon R. Oskarsson, Ragnar P. Kristjansson, Amy L. Lee, Gardar Sveinbjornsson, Magnus K. Magnusson, Erna V. Ivarsdottir, Stefania Benonisdottir, Asmundur Oddsson, Olafur B. Davidsson, Jona Saemundsdottir, Gisli H. Halldorsson, Joseph Arthur, Gudny A. Arnadottir, Gisli Masson, Brynjar O. Jensson, Hilma Holm, Isleifur Olafsson, Pall T. Onundarson, Daniel F. Gudbjartsson, Gudmundur L. Norddahl, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson

ABSTRACT

The 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; P combined = 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. More... »

PAGES

49

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s42003-018-0053-3

    DOI

    http://dx.doi.org/10.1038/s42003-018-0053-3

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1103889346

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30271932


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