Evidence map›Paper›PMID 40468967›Full record

ArticleHaematologica2025

Contribution of genetics to hematopoietic stem cell mobilization: a genome-wide association study of 564 healthy donors mobilized with granulocyte colony-stimulating factor.

Miriam Stenzinger, Susanne Beck, Iordanis Ourailidis, Anna-Lena Volckmar, Nagarajan Paramasivam, Aysel Ahadova, Aitzkoa Lopez de Lapuente Portilla, Phuong La Yen, Bjorn Nilsson, Justo Lorenzo Bermejo and 2 more

Abstract read
In one paragraph

Article in Haematologica, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Miriam StenzingerInstitute of Immunology, University Hospital Heidelberg, Heidelberg, Germany; Institute for Clinical Transfusion Medicine and Cell Therapy, Heidelberg. miriam.stenzinger@med.uni-heidelberg.de.
Susanne BeckInstitute of Pathology, University Hospital Heidelberg, Heidelberg.
Iordanis OurailidisInstitute of Pathology, University Hospital Heidelberg, Heidelberg.
Anna-Lena VolckmarInstitute of Pathology, University Hospital Heidelberg, Heidelberg.
Nagarajan ParamasivamComputational Oncology Group, Molecular Precision Oncology Program, German Cancer Research Center (DKFZ), Heidelberg, Germany; National Center for Tumor Diseases (NCT) Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Heidelberg.
Aysel AhadovaDepartment of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg.
Aitzkoa Lopez de Lapuente PortillaDepartment of Laboratory Medicine, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund.
Phuong La YenDepartment of Laboratory Medicine, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund.
Bjorn NilssonDepartment of Laboratory Medicine, Lund University, Lund, Sweden; Lund Stem Cell Center, Lund University, Lund, Sweden; Broad Institute, Cambridge, MA.
Justo Lorenzo BermejoStatistical Genetics Research Group, Institute of Medical Biometry, Heidelberg University, Heidelberg, Germany; Laboratory of Biostatistics for Precision Oncology, Institut de cancerologie Strasbourg Europe, Strasbourg.
Halvard BonigInstitute for Transfusion Medicine and Immunohematology, Goethe University, Frankfurt a. M., Germany; German Red Cross Blood Service Baden-Wurttemberg-Hessen, Institute Frankfurt, Frankfurt.
Jan BudcziesInstitute of Pathology, University Hospital Heidelberg, Heidelberg.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hematopoietic stem and progenitor cells (HSPC) from mobilized blood are the preferred graft source for allogeneic and autologous stem cell transplantation. The efficiency of CD34+ cell mobilization with granulocyte colony-stimulating factor (G-CSF) varies significantly between individuals, but is reproducible across mobilization cycles within an individual, suggesting a genetic component, a hypothesis that has been previously investigated by testing for candidate single-nucleotide polymorphisms (SNP) associations. As the genetic determinants of HSPC mobilization have not been analyzed on the genomic scale so far, we performed a genome-wide association study (GWAS) in a German population of 564 healthy G-CSF mobilized allogeneic stem cell donors. None of the association between about 5 million variants and the primary outcome investigated (CD34+ cell frequency in peripheral blood) reached genome-wide significance. Focused analysis of 11 variants previously shown to be associated with basal CD34+ cell levels confirmed an association of CXCR4-rs11688530 (A>G) and ARHGAP45-rs36084354 (A>G) with higher CD34+ frequency in G-CSF mobilized healthy donors showing an explained variance (Varex) of 1.07% (P=0.004) and 0.86% (P=0.01), respectively. Demographic analysis revealed an association of peripheral blood CD34+ cell frequency with sex (Varex=8.1%) and body mass index (Varex=7.2%) that exceeded the contribution of single variants. The current study is the first GWAS in mobilized stem cell donors and had a statistical power of 80% to detect single nucleotide polymorphism with Varex of ≥6.7% at genome-wide significance. The study results exclude a monogenetic cause of population G-CSF responsiveness and support the view that polygenetic risk scores are required as predictors.

Indexed as

Genome-Wide Association StudyGranulocyte Colony-Stimulating FactorHematopoietic Stem Cell MobilizationHematopoietic Stem CellsAdultAgedAntigens, CD34FemaleGenotypeGTPase-Activating ProteinsHematopoietic Stem Cell TransplantationHumansMaleMiddle AgedPolymorphism, Single NucleotideReceptors, CXCR4Antigens, CD34Granulocyte Colony-Stimulating FactorGTPase-Activating ProteinsReceptors, CXCR4

Identifiers

PMID40468967
PMCPMC12580694

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.