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

Volumn 35, Issue , 2005, Pages S89-S92

  Svahn, J ^a   Capasso, M ^b   Lanciotti, M ^a   Marrone, A ^b   Haupt, R ^a   Bacigalupo, A ^c   Pongiglione, C ^a   Boschetto, L ^b   Longoni, D ^d   Pillon, M ^e   Pistorio, A ^a   Di Michele, P ^a   Iori, A P ^f   Calvillo, M ^a   Locasciulli, A ^g   Menna, G ^h   Riccardi, R ⁱ   Ramenghi, U ^j   Dufour, C ^a   Iolascon, A ^b  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d SAN GERARDO HOSPITAL   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^h Ospedale Pausillipon   (Italy)

ⁱ FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^j REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

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Author keywords

Aplastic anemia; CTLA4 polymorphisms; Immunosuppressive therapy

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; CYTOTOXIC T-LYMPHOCYTE ANTIGEN 4; DIFFERENTIATION ANTIGEN; LEUKOCYTE ANTIGEN; ALANINE; CYCLOSPORIN A; CYSTEINE; GLYCINE; GRANULOCYTE COLONY STIMULATING FACTOR; LYMPHOCYTE ANTIBODY; METHYLPREDNISOLONE; STEROID; THREONINE;

ADOLESCENT; ADULT; APLASTIC ANEMIA; ARTICLE; CASE CONTROL STUDY; CAUCASIAN; CHILD; EXON; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; HUMAN; INFANT; MALE; MIDDLE AGED; PRESCHOOL CHILD; PROMOTER REGION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; AMINO ACID SUBSTITUTION; ANTIGEN EXPRESSION; BONE MARROW TRANSPLANTATION; CONTROLLED STUDY; DRUG RESPONSE; GENETIC POLYMORPHISM; GENETIC RISK; IMMUNOSUPPRESSIVE TREATMENT; MAJOR CLINICAL STUDY; PATHOGENESIS; POPULATION RISK; PRIORITY JOURNAL; PROTEIN FUNCTION;

ADOLESCENT; ADULT; ANEMIA, APLASTIC; ANTIGENS, CD; ANTIGENS, DIFFERENTIATION; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); RISK FACTORS;

EID: 20944444090     PISSN: 02683369     EISSN: 14765365     Source Type: Journal    
DOI: 10.1038/sj.bmt.1704855     Document Type: Article

References (15)

1. Dufour C, Corcione A, Svahn J et al. Interferon gamma and tumour necrosis factor alpha are overexpressed in bone marrow T lymphocytes from paediatric patients with aplastic anaemia. Br J Haematol 2001; 115: 1023-1031.
2. Kagan WA, Ascensao JA, Pahwa RN et al. Aplastic anemia: presence in human bone marrow of cells that suppress myelopoiesis. Proc Natl Acad USA 1976; 73: 2890-2894.
3. Nakao S, Yamaguchi M, Shiobara S et al. Interferon gamma gene expression in unstimulated bone marrow mononuclear cells predicts a good response to cyclosporine therapy in aplastic anemia. Blood 1992; 79: 2532-2535.
4. Bacigalupo A, Brand R, Oneto R et al. Treatment of acquired severe aplastic anemia: bone marrow transplantation compared with immunosuppressive therapy - The European Group for Blood and Marrow Transplantation experience. Semin Hematol 2000; 37: 69-80.
5. Ligers A, Teleshova N, Masterman T et al. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms. Genes Immun 2001; 2: 145-152.
6. Maurer M, Loserth S, Kolb-Maurer A et al. A polymorphism in the human cytotoxic T-lymphocyte antigen 4 (CTLA4) gene (exon 1 +49) alters T-cell activation. Immunogenetics 2002; 54: 1-8.
7. Chistiakov DA, Turakulov RI. CTLA-4 and its role in autoimmune thyroid disease. J Mol Endocrinol 2003; 31: 21-36.
8. Kantarci OH, Hebrink DD, Achenbach SJ et al. CTLA4 is associated with susceptibility to multiple sclerosis. J Neuroimmunol 2003; 134: 133-141.
9. Ueda H, Howson JM, Esposito L et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423: 506-511.
10. Harbo HF, Celius EG, Vartdal F et al. CTLA4 promoter and exon 1 dimorphisms in multiple sclerosis. Tissue Antigens 1999; 53: 106-110.
11. Rasmussen HB, Kelly MA, Francis DA et al. CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLADR2 among Shanghai Chinese. J Neurol Sci 2001; 184: 143-147.
12. Stefanescu RN, Olferiev M, Liu Y et al. Inhibitory Fc gamma receptors: from gene to disease. J Clin Immunol 2004; 24: 315-326.
13. Su K, Li X, Edberg JC et al. A promoter haplotype of the immunoreceptor tyrosine-based inhibitory motif-bearing FcgammaRIIb alters receptor expression and associates with autoimmunity. I. Regulatory FCGR2B polymorphisms and their association with systemic lupus erythematosus. J Immunol 2004; 172: 7186-7191.
14. Wu J, Metz C, Xu X et al. A novel polymorphic CAAT/enhancer-binding protein beta element in the FasL gene promoter alters Fas ligand expression: a candidate background gene in African American systemic lupus erythematosus patients. J Immunol 2003; 170: 132-138.
15. Camitta BM, Thomas ED, Nathan DG et al. Severe aplastic anemia: a prospective study of the effect of early marrow transplantation on acute mortality. Blood 1976; 48: 63-70.