Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Functional dissection of the gene regulatory mechanism underlying variation in blood CD34+ cell levels at 1p36.23/ENO1

Ali, Zain LU ; Cafaro, Caterina LU ; Ekdahl, Ludvig LU ; Lamarca, Antton LU ; Lopez de Lapuente Portilla, Aitzkoa LU and Nilsson, Björn LU (2025) In Scientific Reports 16(1).
Abstract

Understanding the genetic regulation of blood CD34+ cell levels could lead to better methods for stem cell mobilization and transplantation. Recently, in a genome-wide association study (GWAS), we identified 11 genetic associations with blood CD34+ cell levels. One of the most significant maps to an intergenic region between the ENO1 and RERE genes at chromosome 1p36.23. However, the underlying mechanism remains unknown. Here, using functional fine-mapping, we identify rs10864368:C > T as a causal non-coding variant. Specifically, the rs10864368-T allele abrogates a binding site for the GATA2 transcription factor, leading to downregulation of ENO1 and RERE and lower CD34+ cell levels. Our data link a... (More)

Understanding the genetic regulation of blood CD34+ cell levels could lead to better methods for stem cell mobilization and transplantation. Recently, in a genome-wide association study (GWAS), we identified 11 genetic associations with blood CD34+ cell levels. One of the most significant maps to an intergenic region between the ENO1 and RERE genes at chromosome 1p36.23. However, the underlying mechanism remains unknown. Here, using functional fine-mapping, we identify rs10864368:C > T as a causal non-coding variant. Specifically, the rs10864368-T allele abrogates a binding site for the GATA2 transcription factor, leading to downregulation of ENO1 and RERE and lower CD34+ cell levels. Our data link a specific GATA2 target to the regulation of CD34+ cell levels, expanding on the role of GATA2 in human hematopoieisis.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Gata-2, Hematopoietic stem and progenitor cells, Stem cell transplantation
in
Scientific Reports
volume
16
issue
1
article number
558
publisher
Nature Publishing Group
external identifiers
  • pmid:41318785
  • scopus:105026898392
ISSN
2045-2322
DOI
10.1038/s41598-025-30068-4
language
English
LU publication?
yes
additional info
Publisher Copyright: © The Author(s) 2025.
id
646e0989-1903-4e0b-83a6-48476dfefec1
date added to LUP
2026-03-09 16:50:01
date last changed
2026-05-19 04:21:09
@article{646e0989-1903-4e0b-83a6-48476dfefec1,
  abstract     = {{<p>Understanding the genetic regulation of blood CD34<sup>+</sup> cell levels could lead to better methods for stem cell mobilization and transplantation. Recently, in a genome-wide association study (GWAS), we identified 11 genetic associations with blood CD34<sup>+</sup> cell levels. One of the most significant maps to an intergenic region between the ENO1 and RERE genes at chromosome 1p36.23. However, the underlying mechanism remains unknown. Here, using functional fine-mapping, we identify rs10864368:C &gt; T as a causal non-coding variant. Specifically, the rs10864368-T allele abrogates a binding site for the GATA2 transcription factor, leading to downregulation of ENO1 and RERE and lower CD34<sup>+</sup> cell levels. Our data link a specific GATA2 target to the regulation of CD34<sup>+</sup> cell levels, expanding on the role of GATA2 in human hematopoieisis.</p>}},
  author       = {{Ali, Zain and Cafaro, Caterina and Ekdahl, Ludvig and Lamarca, Antton and Lopez de Lapuente Portilla, Aitzkoa and Nilsson, Björn}},
  issn         = {{2045-2322}},
  keywords     = {{Gata-2; Hematopoietic stem and progenitor cells; Stem cell transplantation}},
  language     = {{eng}},
  month        = {{11}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Scientific Reports}},
  title        = {{Functional dissection of the gene regulatory mechanism underlying variation in blood CD34<sup>+</sup> cell levels at 1p36.23/ENO1}},
  url          = {{http://dx.doi.org/10.1038/s41598-025-30068-4}},
  doi          = {{10.1038/s41598-025-30068-4}},
  volume       = {{16}},
  year         = {{2025}},
}