Heritability and association with distinct genetic loci of erythropoietin levels in the general population

Corre, Tanguy; Ponte, Belén; Pivin, Edward; Pruijm, Menno; Ackermann, Daniel; Ehret, Georg; Spanaus, Katharina; Bochud, Murielle; Wenger, Roland H.

doi:10.3324/haematol.2021.278389

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…Using dried neonatal blood spots, also the CRP locus was reported to be associated with circulating Epo [115]. In contrast to the latter study, we found a strong heritability of circulating Epo levels in a family-based cohort from the general population [21]. SNPs of the MAP2K5-SKOR1-PIAS1 locus showed the highest association with circulating Epo levels.…”

Section: Genetics To Provide More Insights Into Epo Regulation?contrasting

confidence: 99%

Fount, fate, features, and function of renal erythropoietin-producing cells

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Bapst

Khodo

et al. 2022

Pflugers Arch - Eur J Physiol

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Renal erythropoietin (Epo)-producing (REP) cells represent a rare and incompletely understood cell type. REP cells are fibroblast-like cells located in close proximity to blood vessels and tubules of the corticomedullary border region. Epo mRNA in REP cells is produced in a pronounced “on–off” mode, showing transient transcriptional bursts upon exposure to hypoxia. In contrast to “ordinary” fibroblasts, REP cells do not proliferate ex vivo, cease to produce Epo, and lose their identity following immortalization and prolonged in vitro culture, consistent with the loss of Epo production following REP cell proliferation during tissue remodelling in chronic kidney disease. Because Epo protein is usually not detectable in kidney tissue, and Epo mRNA is only transiently induced under hypoxic conditions, transgenic mouse models have been developed to permanently label REP cell precursors, active Epo producers, and inactive descendants. Future single-cell analyses of the renal stromal compartment will identify novel characteristic markers of tagged REP cells, which will provide novel insights into the regulation of Epo expression in this unique cell type.

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Section: Genetics To Provide More Insights Into Epo Regulation?contrasting

confidence: 99%

Fount, fate, features, and function of renal erythropoietin-producing cells

Dahl

Bapst

Khodo

et al. 2022

Pflugers Arch - Eur J Physiol

Self Cite

View full text Add to dashboard Cite

show abstract

“…Corre et al 2 , on page 2499 of this issue, report a study of the type that offers a way out of this trap. The authors present a quantitative-trait association study, comparing circulating levels of the hormone erythropoietin with the genotype of a genome-wide SNP set.…”

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confidence: 99%