Previous studies of non-histocompatibility leukocyte antigen (HLA) gene single-nucleotide polymorphisms (SNPs) on subgroups of patients undergoing allogeneic haematopoietic stem cell transplantation (HSCT) revealed an association with transplant outcome. This study further evaluated the association of non-HLA polymorphisms with overall survival in a cohort of 762 HSCT patients using data on 26 polymorphisms in 16 non-HLA genes. When viewed in addition to an already established clinical risk score (EBMT-score), three polymorphisms: rs8177374 in the gene for MyD88-adapter-like (MAL; P=0.026), rs9340799 in the oestrogen receptor gene (ESR; P=0.003) and rs1800795 in interleukin-6 (IL-6; P=0.007) were found to be associated with reduced overall survival, whereas the haplo-genotype (ACC/ACC) in IL-10 was protective (P=0.02). The addition of these non-HLA polymorphisms in a Cox regression model alongside the EBMT-score improved discrimination between risk groups and increased the level of prediction compared with the EBMT-score alone (gain in prediction capability for EBMT-genetic-score 10.8%). Results also demonstrated how changes in clinical practice through time have altered the effects of non-HLA analysis. The study illustrates the significance of non-HLA genotyping prior to HSCT and the importance of further investigation into non-HLA gene polymorphisms in risk prediction.

• MeSH
• Estrogen Receptor alpha genetics   MeSH
• Allografts MeSH
• Child MeSH
• Adult MeSH
• Genotype MeSH
• Haplotypes MeSH
• Hematologic Neoplasms mortality   therapy   MeSH
• Histocompatibility MeSH
• Risk Assessment methods   MeSH
• Infections mortality   MeSH
• Interleukin-10 genetics   MeSH
• Interleukin-6 genetics   MeSH
• Polymorphism, Single Nucleotide * MeSH
• Kaplan-Meier Estimate MeSH
• Middle Aged MeSH
• Humans MeSH
• Membrane Glycoproteins genetics   MeSH
• Adolescent MeSH
• Multiple Organ Failure mortality   MeSH
• Follow-Up Studies MeSH
• Graft vs Host Disease mortality   MeSH
• Cause of Death MeSH
• Transplantation Conditioning adverse effects   MeSH
• Prognosis MeSH
• Proportional Hazards Models MeSH
• Receptors, Interleukin-1 genetics   MeSH
• Aged MeSH
• Hematopoietic Stem Cell Transplantation mortality   MeSH
• Treatment Outcome MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Names of Substances
• Estrogen Receptor alpha MeSH
• ESR1 protein, human MeSH Browser
• IL10 protein, human MeSH Browser
• IL6 protein, human MeSH Browser
• Interleukin-10 MeSH
• Interleukin-6 MeSH
• Membrane Glycoproteins MeSH
• Receptors, Interleukin-1 MeSH
• TIRAP protein, human MeSH Browser