A 3′-untranslated region variant is associated with impaired expression of CD226 in T and natural killer T cells and is associated with susceptibility to systemic lupus erythematosus

Arthritis and Rheumatism

Volumn 62, Issue 11, 2010, Pages 3404-3414

  Löfgren, Sara E ^a   Delgado Vega, Angelica M ^a   Gallant, Caroline J ^a   Sánchez, Elena ^b,c   Truedsson, Lennart ^d   De Ramón Garrido, Enrique ^e   Sabio, José M ^f   González Escribano, María F ^g   Pons Estel, Bernardo A ^h   D'Alfonso, Sandra ⁱ   Witte, Torsten ^j   Lauwerys, Bernard R ^k   Endreffy, Emoke ^l   Kovács, László ^m   Vasconcelos, Carlos ⁿ   Martins Da Silva, Berta ^o   Martín, Javier ^b   Alarcón Riquelme, Marta E ^b,p,q,r   Kozyrev, Sergey V ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b CSIC   (Spain)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d LUND UNIVERSITY   (Sweden)

^e HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^f HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

^g HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^h Sanatorio Parque   (Argentina)

ⁱ UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^j HANNOVER MEDICAL SCHOOL   (Germany)

^k CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^l UNIVERSITY OF SZEGED   (Hungary)

^m UNIVERSITY OF SZEGED   (Hungary)

ⁿ HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^o UNIVERSITY OF PORTO   (Portugal)

^p UPPSALA UNIVERSITY   (Sweden)

^q OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^r UNIVERSITY OF GRANADA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD226 PROTEIN; LUCIFERASE; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG; CD226 ANTIGEN; T LYMPHOCYTE ANTIGEN;

3' UNTRANSLATED REGION; ARTICLE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CONTROLLED STUDY; EUROPE; EXON; FLUORESCENCE ACTIVATED CELL SORTING; GENE DELETION; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NATURAL KILLER T CELL; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REPORTER GENE; RNA ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; ALLELE; CAUCASIAN; CELL DIFFERENTIATION; FEMALE; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; MALE; T LYMPHOCYTE;

3' UNTRANSLATED REGIONS; ALLELES; ANTIGENS, DIFFERENTIATION, T-LYMPHOCYTE; CELL DIFFERENTIATION; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; T-LYMPHOCYTES;

EID: 78249275233     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.27677     Document Type: Article

References (43)

1. Gregersen PK, Olsson LM,. Recent advances in the genetics of autoimmune disease. Annu Rev Immunol 2009; 27: 363 - 91.
2. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007; 39: 857 - 64.
3. Shibuya A, Campbell D, Hannum C, Yssel H, Franz-Bacon K, McClanahan T, et al. DNAM-1, a novel adhesion molecule involved in the cytolytic function of T lymphocytes. Immunity 1996; 4: 573 - 81.
4. Hafler JP, Maier LM, Cooper JD, Plagnol V, Hinks A, Simmonds MJ, et al. CD226 Gly307Ser association with multiple autoimmune diseases. Genes Immun 2009; 10: 5 - 10.
5. Wieczorek S, Hoffjan S, Chan A, Rey L, Harper L, Fricke H, et al. Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener?s granulomatosis and confirmation for multiple sclerosis in German patients. Genes Immun 2009; 10: 591 - 5.
6. Tabata H, Hara M, Kitani A, Hirose T, Norioka K, Harigai M, et al. Expression of TLiSA1 on T cells from patients with rheumatoid arthritis and systemic lupus erythematosus. Clin Immunol Immunopathol 1989; 52: 366 - 75. (Pubitemid 19214172)
7. Tao D, Shangwu L, Qun W, Yan L, Wei J, Junyan L, et al. CD226 expression deficiency causes high sensitivity to apoptosis in NK T cells from patients with systemic lupus erythematosus. J Immunol 2005; 174: 1281 - 90.
8. Bachelet I, Munitz A, Mankutad D, Levi-Schaffer F,. Mast cell costimulation by CD226/CD112 (DNAM-1/Nectin-2): a novel interface in the allergic process. J Biol Chem 2006; 281: 27190 - 6.
9. Ma D, Sun Y, Lin D, Wang H, Dai B, Zhang X, et al. CD226 is expressed on the megakaryocytic lineage from hematopoietic stem cells/progenitor cells and involved in its polyploidization. Eur J Haematol 2005; 74: 228 - 40.
10. Burns GF, Triglia T, Werkmeister JA, Begley CG, Boyd AW,. TLiSA1, a human T lineage-specific activation antigen involved in the differentiation of cytotoxic T lymphocytes and anomalous killer cells from their precursors. J Exp Med 1985; 161: 1063 - 78.
11. Shibuya K, Shirakawa J, Kameyama T, Honda S, Tahara-Hanaoka S, Miyamoto A, et al. CD226 (DNAM-1) is involved in lymphocyte function-associated antigen 1 costimulatory signal for naive T cell differentiation and proliferation. J Exp Med 2003; 198: 1829 - 39.
12. Sherrington PD, Scott JL, Jin B, Simmons D, Dorahy DJ, Lloyd J, et al. TLiSA1 (PTA1) activation antigen implicated in T cell differentiation and platelet activation is a member of the immunoglobulin superfamily exhibiting distinctive regulation of expression. J Biol Chem 1997; 272: 21735 - 44.
13. Tahara-Hanaoka S, Shibuya K, Onoda Y, Zhang H, Yamazaki S, Miyamoto A, et al. Functional characterization of DNAM-1 (CD226) interaction with its ligands PVR (CD155) and nectin-2 (PRR-2/CD112). Int Immunol 2004; 16: 533 - 8.
14. Fang L, Zhang X, Miao J, Zhao F, Yang K, Zhuang R, et al. Expression of CD226 antagonizes apoptotic cell death in murine thymocytes. J Immunol 2009; 182: 5453 - 60.
15. Reymond N, Imbert AM, Devilard E, Fabre S, Chabannon C, Xerri L, et al. DNAM-1 and PVR regulate monocyte migration through endothelial junctions. J Exp Med 2004; 199: 1331 - 41.
16. Scott JL, Dunn SM, Jin B, Hillam AJ, Walton S, Berndt MC, et al. Characterization of a novel membrane glycoprotein involved in platelet activation. J Biol Chem 1989; 264: 13475 - 82.
17. Kojima H, Kanada H, Shimizu S, Kasama E, Shibuya K, Nakauchi H, et al. CD226 mediates platelet and megakaryocytic cell adhesion to vascular endothelial cells. J Biol Chem 2003; 278: 36748 - 53.
18. Bottino C, Castriconi R, Pende D, Rivera P, Nanni M, Carnemolla B, et al. Identification of PVR (CD155) and nectin-2 (CD112) as cell surface ligands for the human DNAM-1 (CD226) activating molecule. J Exp Med 2003; 198: 557 - 67.
19. Shibuya A, Lanier LL, Phillips JH,. Protein kinase C is involved in the regulation of both signaling and adhesion mediated by DNAX accessory molecule-1 receptor. J Immunol 1998; 161: 1671 - 6.
20. Shibuya K, Lanier LL, Phillips JH, Ochs HD, Shimizu K, Nakayama E, et al. Physical and functional association of LFA-1 with DNAM-1 adhesion molecule. Immunity 1999; 11: 615 - 23.
21. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271 - 7.
22. Barrett JC, Fry B, Maller J, Daly MJ,. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263 - 5.
23. Sanchez E, Abelson AK, Sabio JM, Gonzalez-Gay MA, Ortego-Centeno N, Jimenez-Alonso J, et al. Association of a CD24 gene polymorphism with susceptibility to systemic lupus erythematosus. Arthritis Rheum 2007; 56: 3080 - 6. (Pubitemid 47502755)
24. Purcell S, Daly MJ, Sham PC,. WHAP: haplotype-based association analysis. Bioinformatics 2007; 23: 255 - 6.
25. Livak KJ, Schmittgen TD,. Analysis of relative gene expression data using real-time quantitative PCR and the 2 C T method. Methods 2001; 25: 402 - 8.
26. Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, et al. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet 2006; 38: 550 - 5.
27. Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet 2008; 40: 211 - 6.
28. Takeda K, Dennert G,. The development of autoimmunity in C57BL/6 lpr mice correlates with the disappearance of natural killer type 1-positive cells: evidence for their suppressive action on bone marrow stem cell proliferation, B cell immunoglobulin secretion, and autoimmune symptoms. J Exp Med 1993; 177: 155 - 64.
29. Mieza MA, Itoh T, Cui JQ, Makino Y, Kawano T, Tsuchida K, et al. Selective reduction of Vα14+ NK T cells associated with disease development in autoimmune-prone mice. J Immunol 1996; 156: 4035 - 40.
30. Oishi Y, Sumida T, Sakamoto A, Kita Y, Kurasawa K, Nawata Y, et al. Selective reduction and recovery of invariant Vα24JαQ T cell receptor T cells in correlation with disease activity in patients with systemic lupus erythematosus. J Rheumatol 2001; 28: 275 - 83.
31. + NKT cell numbers are decreased in a wide variety of diseases that are characterized by autoreactive tissue damage. Clin Immunol 2001; 100: 144 - 8.
32. Kojo S, Adachi Y, Keino H, Taniguchi M, Sumida T,. Dysfunction of T cell receptor AV24AJ18+,BV11+ double-negative regulatory natural killer T cells in autoimmune diseases. Arthritis Rheum 2001; 44: 1127 - 38.
33. Green MR, Kennell AS, Larche MJ, Seifert MH, Isenberg DA, Salaman MR,. Natural killer T cells in families of patients with systemic lupus erythematosus: their possible role in regulation of IGG production. Arthritis Rheum 2007; 56: 303 - 10.
34. Yu KO, Porcelli SA,. The diverse functions of CD1d-restricted NKT cells and their potential for immunotherapy. Immunol Lett 2005; 100: 42 - 55.
35. - (NKT) thymocytes prevent insulin-dependent diabetes mellitus in nonobese diabetic (NOD)/Lt mice by the influence of interleukin (IL)-4 and/or IL-10. J Exp Med 1998; 187: 1047 - 56.
36. Falcone M, Facciotti F, Ghidoli N, Monti P, Olivieri S, Zaccagnino L, et al. Up-regulation of CD1d expression restores the immunoregulatory function of NKT cells and prevents autoimmune diabetes in nonobese diabetic mice. J Immunol 2004; 172: 5908 - 16.
37. Jahng AW, Maricic I, Pedersen B, Burdin N, Naidenko O, Kronenberg M, et al. Activation of natural killer T cells potentiates or prevents experimental autoimmune encephalomyelitis. J Exp Med 2001; 194: 1789 - 99.
38. Sonoda KH, Exley M, Snapper S, Balk SP, Stein-Streilein J,. CD1-reactive natural killer T cells are required for development of systemic tolerance through an immune-privileged site. J Exp Med 1999; 190: 1215 - 26.
39. Hegde S, Jankowska-Gan E, Roenneburg DA, Torrealba J, Burlingham WJ, Gumperz JE,. Human NKT cells promote monocyte differentiation into suppressive myeloid antigen-presenting cells. J Leukoc Biol 2009; 86: 757 - 68.
40. Singh AK, Wilson MT, Hong S, Olivares-Villagomez D, Du C, Stanic AK, et al. Natural killer T cell activation protects mice against experimental autoimmune encephalomyelitis. J Exp Med 2001; 194: 1801 - 11.
41. Singh AK, Yang JQ, Parekh VV, Wei J, Wang CR, Joyce S, et al. The natural killer T cell ligand α-galactosylceramide prevents or promotes pristane-induced lupus in mice. Eur J Immunol 2005; 35: 1143 - 54.
42. Miellot A, Zhu R, Diem S, Boissier MC, Herbelin A, Bessis N,. Activation of invariant NK T cells protects against experimental rheumatoid arthritis by an IL-10-dependent pathway. Eur J Immunol 2005; 35: 3704 - 13.
43. Seth S, Georgoudaki AM, Chambers BJ, Qiu Q, Kremmer E, Maier MK, et al. Heterogeneous expression of the adhesion receptor CD226 on murine NK and T cells and its function in NK-mediated killing of immature dendritic cells. J Leukoc Biol 2009; 86: 91 - 101.