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 (, was genome-wide significantly associated with event-free survival (p=7.0x10) and sGvHD (p=7.5x10). Further associations were detected for SNPs in the Paxillin gene ( death without prior relapse or sGvHD, as well as for SNPs of the Plasmacytoma Variant Translocation 1 gene , a long non-coding RNA gene, the Melanocortin 5 Receptor and the WW Domain Containing Oxidoreductase gene (, 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.
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| http://dx.doi.org/10.3389/fimmu.2024.1280876 | DOI Listing |
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