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September 16, 2025Open Access

Additive associations of variants at the expression quantitative trait loci of TFR2 and EPO in a linkage disequilibrium block with hypochromic erythropoiesis

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Authors

TNTaku NakaiSOS Oxygène (France)KOKinuko OhnedaTohoku UniversityTHTakanori HidakaTohoku Institute of Technology

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Overview

Genome-wide association study identifies 30 variants related to erythrocyte traits, suggesting interactions between iron metabolism and erythropoiesis.

Key Points

  • Mild hypochromic erythropoiesis occurs in individuals carrying mcv-LD blocks that include TFR2 and EPO variants.
  • Key findings show that rs2075672 and rs1617640 variants are associated with erythrocyte traits and serum iron concentrations, respectively.
  • Longitudinal analyses confirmed the persistence of hypochromic erythropoiesis in carriers over five years.
  • Iron metabolism and erythropoiesis interactions are evident, even in healthy individuals, highlighting the role of eQTLs.

Cite This Study

Nakai et al. (2025) studied this question.

synapsesocial.com/papers/68d4538f31b076d99fa58f1ehttps://doi.org/10.1101/2025.09.12.25335626
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Also Consider

Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Tissue-Specific Regulation of Iron Metabolism and Heme Synthesis: Distinct Control Mechanisms in Erythroid Cells1997 · 548 citations
  2. 2Hepcidin is decreased in TFR2 hemochromatosis2004 · 401 citations