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BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT
BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT BONE MARROW TRANSPLANTATION Piras, I. S., Angius, A., Andreani, M., Testi, M., Lucarelli, G., Floris, M., Marktel, S., Ciceri, F., La Nasa, G., Fleischhauer, K., Roncarolo, M. G., Bulfone, A., Gregori, S., Bacchetta, R. 2014; 49 (11): 1400-1404Abstract
The genetic background of donor and recipient is an important factor determining the outcome of allogeneic hematopoietic SCT (allo-HSCT). We applied whole-genome analysis to investigate genetic variants-other than HLA class I and II-associated with negative outcome after HLA-identical sibling allo-HSCT in a cohort of 110 ß-Thalassemic patients. We identified two single-nucleotide polymorphisms (SNPs) in BAT2 (A/G) and BAT3 (T/C) genes, SNP rs11538264 and SNP rs10484558, both located in the HLA class III region, in strong linkage disequilibrium between each other (R(2)=0.92). When considered as single SNP, none of them reached a significant association with graft rejection (nominal P<0.00001 for BAT2 SNP rs11538264, and P<0.0001 for BAT3 SNP rs10484558), whereas the BAT2/BAT3 A/C haplotype was present at significantly higher frequency in patients who rejected as compared to those with functional graft (30.0% vs 2.6%, nominal P=1.15 × 10(-8); and adjusted P=0.0071). The BAT2/BAT3 polymorphisms and specifically the A/C haplotype may represent a novel immunogenetic factor associated with graft rejection in patients undergoing allo-HSCT.Bone Marrow Transplantation advance online publication, 11 August 2014; doi:10.1038/bmt.2014.177.
View details for DOI 10.1038/bmt.2014.177
View details for Web of Science ID 000344927400010
View details for PubMedID 25111513