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Bone Marrow Transplant. 2014 Nov;49(11):1400-1404. doi: 10.1038/bmt.2014.177. Epub 2014 Aug 11.

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

Author information

1
Crs4, Biomedicine, Pula (CA), Italy.
2
IRGB, CNR, Monserrato (CA), Italy.
3
Laboratory of Immunogenetics and Transplant Biology, IME Foundation, Polyclinic of Tor Vergata University, Rome, Italy.
4
International Center for Transplantation in Thalassemia and Sickle Cell Anemia, IME Foundation, Polyclinic of Tor Vergata University, Rome, Italy.
5
Pediatric Immuno-Hematology Unit and Bone Marrow Transplantation Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, Ospedale San Raffaele IRCCS, Milan.
6
Centro Trapianti di Midollo Osseo, P.O. "R. Binaghi", Cagliari, Italy.
7
Department of Hematology, University of Cagliari, Cagliari, Italy.
8
Unit of Molecular and Functional Immunogenetics, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
9
San Raffaele Telethon Institute for Gene Therapy (HSRTIGET), Division of Regenerative Medicine, Stem Cells, and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
10
Universita' Vita-Salute, San Raffaele Scientific Institute, Milano, Italy.
11
bioflag Srl, Pula (CA), Italy.
#
Contributed equally

Erratum in

  • Bone Marrow Transplant. 2014 Nov;49(11):1452. Nasa, G La [corrected to La Nasa, G].

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 (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.

PMID:
25111513
PMCID:
PMC4222814
DOI:
10.1038/bmt.2014.177
[Indexed for MEDLINE]
Free PMC Article

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