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 β-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 (R2=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.

BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT / Piras, Is; Angius, Andrea; Andreani, M; Testi, M; Lucarelli, G; Floris, Matteo; Marktel, S; Ciceri, F; La Nasa, G; Fleischhauer, K; Roncarolo, Mg; Bulfone, A; Gregori, S; Bacchetta, R.. - In: BONE MARROW TRANSPLANTATION. - ISSN 1476-5365. - 49:(2014), pp. 1400-1404. [10.1038/bmt.2014.177]

BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT

ANGIUS, Andrea;FLORIS, Matteo;
2014-01-01

Abstract

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 β-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 (R2=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.
BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT / Piras, Is; Angius, Andrea; Andreani, M; Testi, M; Lucarelli, G; Floris, Matteo; Marktel, S; Ciceri, F; La Nasa, G; Fleischhauer, K; Roncarolo, Mg; Bulfone, A; Gregori, S; Bacchetta, R.. - In: BONE MARROW TRANSPLANTATION. - ISSN 1476-5365. - 49:(2014), pp. 1400-1404. [10.1038/bmt.2014.177]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/175501
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