Clinical manifestations and analyses of the cytotoxic T-lymphocyte associated-4 gene in two Japanese families with systemic lupus erythematosus

Clinical and Experimental Nephrology

Volumn 12, Issue 2, 2008, Pages 149-154

  Sugimoto, Keisuke ^a   Fujita, Shinsuke ^a   Yanagida, Hidehiko ^a   Shimada, Yoshihiro ^a   Tabata, Nobutada ^a   Yagi, Kazuro ^a   Okada, Mitsuru ^a   Takemura, Tsukasa ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Child; CTLA 4; Polymorphism; Systemic lupus erythematosus

Indexed keywords

ANTIBIOTIC AGENT; CYCLOPHOSPHAMIDE; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; METHYLPREDNISOLONE; PREDNISOLONE; PROSTAGLANDIN E1;

ADOLESCENT; ARTICLE; CARDIOVASCULAR DISEASE; CASE REPORT; CLINICAL FEATURE; DISEASE ACTIVITY; DISEASE ASSOCIATION; DRUG DOSE REDUCTION; DRUG DOSE REGIMEN; ENVIRONMENTAL FACTOR; EXON; GENE FUNCTION; GENETIC PREDISPOSITION; GENOTYPE; HEART FAILURE; HEREDITY; HUMAN; IMMUNOLOGICAL TOLERANCE; KIDNEY DISEASE; LABORATORY TEST; MALE; PERICARDIAL EFFUSION; PETECHIA; PLEURA EFFUSION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; T LYMPHOCYTE ACTIVATION; TONSILLITIS; UNTRANSLATED REGION; VASCULITIS;

3' UNTRANSLATED REGIONS; ADOLESCENT; ANTIGENS, CD; ANTIGENS, DIFFERENTIATION; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; HEART FAILURE; HUMANS; IMMUNOSUPPRESSIVE AGENTS; JAPAN; KIDNEY DISEASES; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; PEDIGREE; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RADIOGRAPHY, THORACIC; RISK FACTORS; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, X-RAY COMPUTED; VASCULITIS;

EID: 40849100069     PISSN: 13421751     EISSN: 14377799     Source Type: Journal    
DOI: 10.1007/s10157-007-0019-0     Document Type: Article

References (31)

1. Millis JA. Systemic lupus erythematosus. N Engl J Med. 1994;330:1871-9.
2. Kotzin BL. Systemic lupus erythematosus. Cell. 1996;85:303-6.
3. Vyse TJ, Kotzin BL. Genetic susceptibility to systemic lupus erythematosus. Annu Rev Immunol. 1998;16:261-92.
4. Hashimoto H, Nishimura Y, Dong RP, Kimura A, Sasazuki T, Yamanaka K, et al. HLA antigens in Japanese patients with systemic lupus erythematosus. Scand J Rheumatol. 1994;23:191-4.
5. Duits AJ, Bootsma H, Derksen RHWM, Spronk PE, Kater L, Kallenberg CGM, et al. Skewed distribution og IgG Fc receptor Iia (CD 32) polymorphism is associated with renal disease in systemic lupus erythematosus patients. Arthritis Rheum. 1995;38:1832-6.
6. Wu J, Wilson J, He J, Xiang L, Schur PH, Mountz JD. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest. 1996;98:1107-13.
7. Brunet JF, Denizot F, Luciani MF, Roux-Dosseto M, Suzan M, Mattei MG, Golstein P. A new member of the immunoglobulin superfamily-CTLA-4. Nature. 1987;328:267-70.
8. June CH, Bluestone JA, Nadler LM, Thompson CB. The B7 and CD28 receptor families. Immunol Today. 1994;15:321-31.
9. Nistico L, Buzzetti R, Pritchard LE, Van der Auwera B, Giovannini C, Bosi E, Larrad MTM, Rios MS, Chow CC, Cockram CS, Jacobs K, Mijovic C, Bain SC, Barnett AH, Vandewalle CL, Schuit F, Gorus FK, Registry BD, Tosi R, Pozzilli P, Todd JA. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with type I diabetes. Hum Mol Genet. 1996;5:1075-80.
10. Yanagawa T, Hidaka Y, Guimaraes V, Soliman M DeGroot LJ. CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J Clin Endocrinol Metab. 1995;80:41-5.
11. Donner H, Braun J, Seidl C, Rau H, Finke R, Ventz M, Walfish PG, Usadel KH, Badenhoop K. Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. J Clin Endocrinol Metab. 1997;82:4130-2.
12. Waterhouse P, Pnninger JM, Timms Emma, Wakeham A, Shainian A, Lee KP, Thompson CB, Griesser H, Mak TW. Lymphoproliferative disorders with early lethality in mice deficient in CTLA-4. Science. 1995;270:985-8.
13. Takiguchi M, Murakami M, Nakagawa I, Saito I, Hashimoto A, Ueda T. CTLA4 IgG gene delivery prevents autoantibody production and lupus nephritis in MRL/1pr mice. Life Sci. 2000;66:991-1001.
14. Wang X, Huang W, Mihara M, Sinha J, Davidson A. Mechanism of action of combined short-term CTLA4Ig and anti-CD40 ligand in murine systemic lupus etythematosus. J Immunol. 2002;168:2046-53.
15. Hochberg MC. The application of genetic epidemiology to systemic lupus erythematosus. J Rheumatol. 1987;14:867-9.
16. Takemura T, Hino S, Kuwajima H, Yanagida H, Okada M, Nagata M, Sasaki S, Barasch J, Harris RC, Yoshioka K. Induction of collecting duct morphogenesis in vitro by heparin-binding epidermal growth factor-like growth factor. J Am Soc Nephrol. 2001;12:964-72.
17. Takemura T, Hino S, Okada M, Murata Y, Yanagida H, Ikeda M, Yoshioka K, Harris RC. Potential role of membrane bound heparin-binding epidermal growth factor-like growth factor (HB-EGF) in renal epithelial cell branching. Kidney Int. 2002;61:1968-79.
18. Bluestone JA. Is CTLA-4 a master switch for peripheral T cell tolerance? J Immunol. 1997;158:1989-93.
19. Bombardier C, Gladman DD, Urowitz MB, Caron D, Chang CH. Derivation of the SLEDAI. A disease activity index lupus patients. The committee on prognosis studies in SLE. Arthritis Rheum. 1992;35:630-40.
20. Ahmed S, Ihara K, Kanemitsu S, Nakashima H, Otsuka T, Tsuzuka K, Takeuchi T, Hara T. Association of CTLA-4 but not CD 28 gene polymorphisms with systemic lupus erythematosus in the Japanese population. Rheumatol. 2001;40:662-7.
21. Salomon B, Bluestone JA. Complexities of CD28/B7: CTLA-4 costimulatory pathways in autoimmunity and transplantation. Annu Rev Immunol. 2001;19:225-52.
22. Tivol EA, Schweitzer AN, Sharpe AH. Costimulation and autoimmunity. Curr Opin Immunol. 1996;8:822-30.
23. Pullmann R Jr, Lukac J, Skerenova M, Rovensky J, Hybeniva J, Melus V, Celec S, Pullman R, Hyrdel R. Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus. Clin Exp Rheumatol. 1999;17:725-9.
24. Liu MF, Liu HS, Wang CR, Lei HY. Expression of CTLA-4 molecule in peripheral blood T lymphocytes from patients with systemic lupus erythematosus. J Clin Immunol. 1998;18:392-8.
25. Liu MF, Wang CR Lin LC, Wu CR. CTLA-4 gene polymorphism in promoter and exon-1 regions in Chinese patients with systemic lupus erythematosus. Lupus. 2001;10:647-9.
26. Heward J, Gordon C, Allahabadia A, Barnett AH, Franklyn JA, Gough SC. The A-G polymorphism in exon 1 of the CTLA-4 gene is not associated with systemic lupus erythematosus. Ann Rheum Dis. 1999;58:193-5.
27. Lee YH, Harley JB, Nath SK. CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum Genet. 2005;116:361-7.
28. Gauss KA, Bunger PL, Crawford MA, McDermott BE, Swearingen R, Nelson-Overton LK, Siemsen DW, Kobayashi SD, DeLeo FR, Quinn MT. Variants of the 5′-untranslated region of human NCF2: expression and translational efficacy. Gene. 2006;366:169-79.
29. Hughes TA. Regulation of gene expression by alternative untranslated region. Trends Genet. 2006;22:119-22.
30. Sobczak K, Krzyzosiak WJ. Structural determinants of BRCA1 translational regulation. J Biol Chem. 2002;277:17349-58.
31. Deapen D, Escalante A, Weinrib L, Horwitz D, Bachman B, Roy-Burman P, Walker A, Mack TM. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum. 1992;35:311-8.