A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
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AuthorsOskarsson, Gudjon R
Kristjansson, Ragnar P
Lee, Amy L
Magnusson, Magnus K
Ivarsdottir, Erna V
Davidsson, Olafur B
Halldorsson, Gisli H
Arnadottir, Gudny A
Jensson, Brynjar O
Onundarson, Pall T
Gudbjartsson, Daniel F
Norddahl, Gudmundur L
MetadataShow full item record
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.
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.
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