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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

Bone Marrow Transplantation volume 35, pages S89–S92 (2005)Cite this article

Summary:

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.

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Authors and Affiliations

  1. Hematology Unit, Department of Pediatric Hemato-Oncology, G Gaslini Children's Hospital, Genova, Italy

    J Svahn, M Lanciotti, C Pongiglione, P Di Michele, M Calvillo & C Dufour

  2. Epidemiology and Biostatistics Section, Scientific Directorate, G Gaslini Children's Hospital, Genova, Italy

    R Haupt & A Pistorio

  3. Department of Biochemistry and Medical Biotechnologies, University Federico II, Naples and CEINGE-Advanced Biotechnologies, Naples, Italy

    M Capasso, A Marrone, L Boschetto & A Iolascon

  4. Department of Hematology, Ospedale S Martino, Genova, Italy

    A Bacigalupo

  5. Department of Pediatrics, University of Milan Bicocca, S Gerardo Hospital, Monza, Italy

    D Longoni

  6. Hematology and Oncology Clinic, Department of Pediatrics, University of Padova, Italy

    M Pillon

  7. Department of Cellular Biotechnologies and Hematology, University ‘La Sapienza’, Roma, Italy

    A P Iori

  8. Hematology Department, Ospedale San Camillo-Forlanini, Roma, Italy

    A Locasciulli

  9. Pediatric Hematology Unit, Ospedale Pausillipon, Napoli, Italy

    G Menna

  10. Department of Pediatric Oncology, Ospedale Policlinico Gemelli, Roma, Italy

    R Riccardi

  11. Department of Pediatrics, Ospedale Regina Margherita, Torino, Italy

    U Ramenghi

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  1. J Svahn
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  2. M Capasso
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  3. M Lanciotti
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  5. R Haupt
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  7. C Pongiglione
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  8. L Boschetto
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  9. D Longoni
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  10. M Pillon
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  11. A Pistorio
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  12. P Di Michele
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  13. A P Iori
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  14. M Calvillo
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  15. A Locasciulli
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  16. G Menna
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  17. R Riccardi
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  18. U Ramenghi
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  19. C Dufour
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  20. A Iolascon
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Corresponding author

Correspondence to C Dufour.

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Svahn, J., Capasso, M., Lanciotti, M. et al. 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. Bone Marrow Transplant 35 (Suppl 1), S89–S92 (2005). https://doi.org/10.1038/sj.bmt.1704855

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  • DOI: https://doi.org/10.1038/sj.bmt.1704855

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