The polymorphisms |[minus]|318C>T in the promoter and 49A>G in exon 1 of CTLA4 and the risk of aplastic anemia in a Caucasian population

doi:doi:10.1038/sj.bmt.1704855

Bone Marrow Transplantation (2005) 35, S89–S92. doi:10.1038/sj.bmt.1704855

The polymorphisms -318C>T in the promoter and 49A>G in exon 1 of CTLA4 and the risk of aplastic anemia in a Caucasian population

J Svahn¹, M Capasso³, M Lanciotti¹, A Marrone³, R Haupt², A Bacigalupo⁴, C Pongiglione¹, L Boschetto³, D Longoni⁵, M Pillon⁶, A Pistorio², P Di Michele¹, A P Iori⁷, M Calvillo¹, A Locasciulli⁸, G Menna⁹, R Riccardi¹⁰, U Ramenghi¹¹, C Dufour¹ and A Iolascon³

¹Hematology Unit, Department of Pediatric Hemato-Oncology, G Gaslini Children's Hospital, Genova, Italy
²Epidemiology and Biostatistics Section, Scientific Directorate, G Gaslini Children's Hospital, Genova, Italy
³Department of Biochemistry and Medical Biotechnologies, University Federico II, Naples and CEINGE-Advanced Biotechnologies, Naples, Italy
⁴Department of Hematology, Ospedale S Martino, Genova, Italy
⁵Department of Pediatrics, University of Milan Bicocca, S Gerardo Hospital, Monza, Italy
⁶Hematology and Oncology Clinic, Department of Pediatrics, University of Padova, Italy
⁷Department of Cellular Biotechnologies and Hematology, University 'La Sapienza', Roma, Italy
⁸Hematology Department, Ospedale San Camillo-Forlanini, Roma, Italy
⁹Pediatric Hematology Unit, Ospedale Pausillipon, Napoli, Italy
¹⁰Department of Pediatric Oncology, Ospedale Policlinico Gemelli, Roma, Italy
¹¹Department of Pediatrics, Ospedale Regina Margherita, Torino, Italy

Correspondence: Dr C Dufour, Hematology Unit, Department of Pediatric Hematology Oncology and Bone Marrow Transplant, G Gaslini Childrens' Hospital, Largo G Gaslini 5, Genova 16148, Italy. E-mail: carlodufour@ospedale-gaslini.ge.it

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Abstract

Aplastic anemia (AA) is a rare disease with a major autoimmune pathogenetic component. CTLA4 is a T-lymphocyte surface molecule involved in the maintenance of immune tolerance. Some polymorphisms associated with a reduced expression of CTLA4, and thus presumably with increased tendency to autoimmunity, have been associated with various autoimmune diseases. In this study, we evaluated the distribution of the low expression polymorphisms -318C>T and 49A>G of CTLA4 in a population of 67 patients with acquired AA and in 100 normal controls. There was no difference in the distribution of the tested polymorphism between patients and controls and, within the patient group, between those who responded to immunosuppression vs those who did not respond. This study indicates that the polymorphisms -318C>T and 49A>G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression.