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A genome-wide association study on hematopoietic stem cell transplantation reveals novel genomic loci associated with transplant outcomes

Lookup NU author(s): Dr Rachel CrosslandORCiD, Professor Anne Dickinson

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

Copyright © 2024 Rosenberger, Crossland, Dressel, Kube, Wolff, Wulf, Bickeböller, Dickinson and Holler.Introduction: Data on genomic susceptibility for adverse outcomes after hematopoietic stem cell transplantation (HSCT) for recipients are scarce. Methods: We performed a genome wide association study (GWAS) to identify genes associated with survival/mortality, relapse, and severe graft-versus-host disease (sGvHD), fitting proportional hazard and subdistributional models to data of n=1,392 recipients of European ancestry from three centres. Results: The single nucleotide polymorphism (SNP) rs17154454, intronic to the neuronal growth guidant semaphorin 3C gene (SEMA3C), was genome-wide significantly associated with event-free survival (p=7.0x10-8) and sGvHD (p=7.5x10-8). Further associations were detected for SNPs in the Paxillin gene (PXN) with death without prior relapse or sGvHD, as well as for SNPs of the Plasmacytoma Variant Translocation 1 gene (PVT1, a long non-coding RNA gene), the Melanocortin 5 Receptor (MC5R) gene and the WW Domain Containing Oxidoreductase gene (WWOX), all associated with the occurrence of sGvHD. Functional considerations support the observed associations. Discussion: Thus, new genes were identified, potentially influencing the outcome of HSCT.

Publication metadata

Author(s): Rosenberger A, Crossland RE, Dressel R, Kube D, Wolff D, Wulf G, Bickeboller H, Dickinson A, Holler E

Publication type: Article

Publication status: Published

Journal: Frontiers in Immunology

Year: 2024

Volume: 15

Online publication date: 07/02/2024

Acceptance date: 15/01/2024

Date deposited: 04/03/2024

ISSN (electronic): 1664-3224

Publisher: Frontiers Media SA

URL: https://doi.org/10.3389/fimmu.2024.1280876

DOI: 10.3389/fimmu.2024.1280876

Data Access Statement: The datasets presented in this article are not readily available because of legal and privacy restrictions. Requests to access the datasets should be directed to arosenb@gwdg.de.

PubMed id: 38384455

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