Beschreibung:
<jats:sec><jats:title>Introduction</jats:title><jats:p>Data on genomic susceptibility for adverse outcomes after hematopoietic stem cell transplantation (HSCT) for recipients are scarce.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The single nucleotide polymorphism (SNP) rs17154454, intronic to the neuronal growth guidant semaphorin 3C gene (<jats:italic>SEMA3C)</jats:italic>, was genome-wide significantly associated with event-free survival (p=7.0x10<jats:sup>-8</jats:sup>) and sGvHD (p=7.5x10<jats:sup>-8</jats:sup>). Further associations were detected for SNPs in the Paxillin gene (<jats:italic>PXN) with</jats:italic> death without prior relapse or sGvHD, as well as for SNPs of the Plasmacytoma Variant Translocation 1 gene <jats:italic>(PVT1</jats:italic>, a long non-coding RNA gene<jats:italic>)</jats:italic>, the Melanocortin 5 Receptor <jats:italic>(MC5R) gene</jats:italic> and the WW Domain Containing Oxidoreductase gene (<jats:italic>WWOX)</jats:italic>, all associated with the occurrence of sGvHD. Functional considerations support the observed associations.</jats:p></jats:sec><jats:sec><jats:title>Discussion</jats:title><jats:p>Thus, new genes were identified, potentially influencing the outcome of HSCT.</jats:p></jats:sec>