CTLA-4 +49A>G polymorphism of recipients of HLA-matched sibling allogeneic stem cell transplantation is associated with survival and relapse incidence

Patrizia Piccioli (1) , Giuseppe Balbi (2) , Martina Serra (1) , Anna Morabito (3) , Teresa Lamparelli (4) , Marco Gobbi (5) , Stefania Laurent (3) , Beatrice Dozin (6) , Paolo Bruzzi (6) , Anna Maria Ferraris (7) , Andrea Bacigalupo (4) , Rosario Notaro (8) , Maria Pia Pistillo (3)

1 Medical Oncology C
2 Department of Oncology, Biology and Genetics
3 Breast Cancer Laboratory of Tumour Genetics Unit
4 Division of Hematology
5 Department of Hematology and Oncology
6 Clinical Epidemiology Unit
7 UniGe - Università degli studi di Genova = University of Genoa
8 Laboratory of Genetics and Gene Transfer, Core Research Laboratory

Conflicting observations have been reported about the role of gene polymorphisms in the clinical outcome of allogeneic hematopoietic stem cell transplantation (HSCT). We have investigated three polymorphisms of the gene (−318C>T, +49A>G, CT60G>A) in 133 donor/recipient pairs who underwent HLA-matched sibling donor HSCT for hematological malignancies. We found no association of the clinical outcome of the HSCT with either recipient or donor −318C>T and CT60G>A polymorphisms. At variance, we found a significant association of donor +49A>G G/G genotype with longer overall survival (OS; log-rank test,  = 0.04), and the number of +49A>G G-alleles in the recipient with longer OS ( = 0.027), longer disease-free survival ( = 0.036) and reduced relapse rate ( = 0.042). However, only recipient +49A>G polymorphism was retained as independent prognostic factor in a multivariate analysis, suggesting that the expression of on the cells of recipient may be relevant for the clinical outcome of HSCT.

Mots clés: CTLA-4 polymorphism; Transplant outcome; Survival; Disease relapse

Patrizia Piccioli, Giuseppe Balbi, Martina Serra, Anna Morabito, Teresa Lamparelli, et al.. CTLA-4 +49A>G polymorphism of recipients of HLA-matched sibling allogeneic stem cell transplantation is associated with survival and relapse incidence. Annals of Hematology, 2009, 89 (6), pp.613-618. ⟨10.1007/s00277-009-0885-5⟩. ⟨hal-00493086⟩