Lower expression levels of the programmed death 1 receptor on CD4+CD25+ T cells and correlation with the PD-1.3A genotype in patients with systemic lupus erythematosus

Arthritis and Rheumatism

Volumn 62, Issue 6, 2010, Pages 1702-1711

  Kristjansdottir, Helga ^a,b   Steinsson, Kristjan ^b   Gunnarsson, Iva ^c   Gröndal, Gerdur ^b   Erlendsson, Kristjan ^b   Alarcón Riquelme, Marta E ^a,d,e  

^a UPPSALA UNIVERSITY   (Sweden)

^b LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^e UNIVERSITY OF GRANADA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CD28 ANTIGEN; CD3 ANTIBODY; CD3 ANTIGEN; CD4 ANTIGEN; GENOMIC DNA; PROGRAMMED DEATH 1 RECEPTOR; TRANSCRIPTION FACTOR FOXP3;

ARTICLE; CD25+ T LYMPHOCYTE; CD4+ CD25+ T LYMPHOCYTE; CELL CULTURE; CELL STIMULATION; CLINICAL ARTICLE; CONTROLLED STUDY; FLOW CYTOMETRY; GENE; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ICELAND; PERIPHERAL BLOOD MONONUCLEAR CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGRAMMED DEATH 1 GENE; PROTEIN EXPRESSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SWEDEN; SYSTEMIC LUPUS ERYTHEMATOSUS;

CELLS, CULTURED; FLOW CYTOMETRY; FORKHEAD TRANSCRIPTION FACTORS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; LYMPHOCYTE ACTIVATION; POLYMORPHISM, GENETIC; RECEPTORS, IMMUNOLOGIC; T-LYMPHOCYTES;

EID: 77952915022     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.27417     Document Type: Article

References (50)

1. Kyttaris VC, Krishnan S, Tsokos GC. Systems biology in systemic lupus erythematosus: integrating genes, biology and immune function. Autoimmunity 2006;39:705-709 (Pubitemid 44964373)
2. Fairhurst AM, Wandstrat AE, Wakeland EK. Systemic lupus erythematosus: multiple immunological phenotypes in a complex genetic disease. Adv Immunol 2006;92:1-69. (Pubitemid 44828118)
3. Steinsson K, Alarcon-Riquelme ME. Genetic aspects of rheumatic diseases. Scand J Rheumatol 2005;34:167-177
4. Anaya JM, Gomez L, Castiblanco J. Is there a common genetic basis for autoimmune diseases? Clin Dev Immunol 2006;13:185-195
5. Lindqvist AK, Steinsson K, Johanneson B, Kristjansdottir H, Arnasson A, Grondal G, et al. A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun 2000;14:169-178 (Pubitemid 30662576)
6. Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 2002;32:666-669
7. Keir ME, Francisco LM, Sharpe AH. PD-1 and its ligands in T-cell immunity. Curr Opin Immunol 2007;19:309-314
8. Keir ME, Butte MJ, Freeman GJ, Sharpe AH. PD-1 and its ligands in tolerance and immunity. Annu Rev Immunol 2008;26:677-704. (Pubitemid 351600389)
9. Thorburn CM, Prokunina-Olsson L, Sterba KA, Lum RF, Seldin MF, Alarcon-Riquelme ME, et al. Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort. Genes Immun 2007;8:279-287 (Pubitemid 46888035)
10. Sanghera DK, Manzi S, Bontempo F, Nestlerode C, Kamboh MI. Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies. Hum Genet 2004;115:393-398 (Pubitemid 39341713)
11. Wang SC, Chen YJ, Ou TT, Wu CC, Tsai WC, Liu HW, et al. Programmed death-1 gene polymorphisms in patients with systemic lupus erythematosus in Taiwan. J Clin Immunol 2006;26:506-511 (Pubitemid 44764260)
12. Ferreiros-Vidal I, D'Alfonso S, Papasteriades C, Skopouli FN, Marchini M, Scorza R, et al. Bias in association studies of systemic lupus erythematosus susceptibility due to geographical variation in the frequency of a programmed cell death 1 polymorphism across Europe. Genes Immun 2007;8:138-146
13. Prokunina L, Padyukov L, Bennet A, de Faire U, Wiman B, Prince J, et al. Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope. Arthritis Rheum 2004;50:1770-1773 (Pubitemid 38725088)
14. Nielsen C, Hansen D, Husby S, Jacobsen BB, Lillevang ST. Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 2003;62:492-497 (Pubitemid 37479307)
15. Kroner A, Mehling M, Hemmer B, Rieckmann P, Toyka KV, Maurer M, et al. A PD-1 polymorphism is associated with disease progression in multiple sclerosis. Ann Neurol 2005;58:50-57 (Pubitemid 40962460)
16. Lee SH, Lee YA, Woo DH, Song R, Park EK, Ryu MH, et al. Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population. Arthritis Res Ther 2006;8:R163.
17. Newby PR, Roberts-Davies EL, Brand OJ, Heward JM, Franklyn JA, Gough SC, et al. Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clin Endocrinol (Oxf) 2007;67:125-128
18. Ferreiros-Vidal I, Gomez-Reino JJ, Barros F, Carracedo A, Carreira P, Gonzalez-Escribano F, et al. Association of PDCD1 with susceptibility to systemic lupus erythematosus: evidence of population-specific effects. Arthritis Rheum 2004;50:2590-2597 (Pubitemid 39062720)
19. Iwamoto T, Ikari K, Inoue E, Toyama Y, Hara M, Yamanaka H, et al. Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population. J Hum Genet 2007;52:557-560 (Pubitemid 46835824)
20. Nishimura H, Nose M, Hiai H, Minato N, Honjo T. Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor. Immunity 1999;11:141-151 (Pubitemid 29428807)
21. Nishimura H, Okazaki T, Tanaka Y, Nakatani K, Hara M, Matsumori A, et al. Autoimmune dilated cardiomyopathy in PD-1 receptor-deficient mice. Science 2001;291:319-322 (Pubitemid 32096320)
22. Bertsias GK, Nakou M, Choulaki C, Raptopoulou A, Papadimitraki E, Goulielmos G, et al. Genetic, immunologic, and immuno-histochemical analysis of the programmed death 1/programmed death ligand 1 pathway in human systemic lupus erythematosus. Arthritis Rheum 2009;60:207-218
23. Hoffman RW. T cells in the pathogenesis of systemic lupus erythematosus. Clin Immunol 2004;113:4-13. (Pubitemid 39468261)
24. 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;25:1271-1277
25. Nielsen C, Laustrup H, Voss A, Junker P, Husby S, Lillevang ST. A putative regulatory polymorphism in PD-1 is associated with nephropathy in a population-based cohort of systemic lupus erythematosus patients. Lupus 2004;13:510-516 (Pubitemid 39071204)
26. Mostowska M, Wudarski M, Chwalinska-Sadowska H, Jagodzinski PP. The programmed cell death 1 gene 7209 C>T polymorphism is associated with the risk of systemic lupus erythematosus in the Polish population. Clin Exp Rheumatol 2008;26:457-460 (Pubitemid 352003216)
27. Wang Q, Ye D, Yin J, Li X, Zhang G, Zhang Y, et al. Programmed cell death 1 genotypes are associated with susceptibility to systemic lupus erythematosus among Chinese. Arch Dermatol Res 2008;300:91-93
28. Lin SC, Yen JH, Tsai JJ, Tsai WC, Ou TT, Liu HW, et al. Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis Rheum 2004;50:770-775
29. Kong EK, Prokunina-Olsson L, Wong WH, Lau CS, Chan TM, Alarcon-Riquelme M, et al. A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum 2005;52:1058-1062 (Pubitemid 40530111)
30. Hayashi M, Kouki T, Takasu N, Sunagawa S, Komiya I. Association of an A/C single nucleotide polymorphism in programmed cell death-ligand 1 gene with Graves' disease in Japanese patients. Eur J Endocrinol 2008;158:817-822 (Pubitemid 351837370)
31. Harley JB, Alarcon-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, et al. A genome-wide association scan with systemic lupus erythematosus identifies risk variants contributing to disease risk [abstract]. Arthritis Rheum 2008;58 Suppl:S340.
32. Greenwald RJ, Freeman GJ, Sharpe AH. The B7 family revisited. Annu Rev Immunol 2005;23:515-548
33. Okazaki T, Honjo T. The PD-1-PD-L pathway in immunological tolerance. Trends Immunol 2006;27:195-201.
34. Chemnitz JM, Parry RV, Nichols KE, June CH, Riley JL. SHP-1 and SHP-2 associate with immunoreceptor tyrosine-based switch motif of programmed death 1 upon primary human T cell stimulation, but only receptor ligation prevents T cell activation. J Immunol 2004;173:945-954
35. Butte MJ, Keir ME, Phamduy TB, Sharpe AH, Freeman GJ. Programmed death-1 ligand 1 interacts specifically with the B7-1 costimulatory molecule to inhibit T cell responses. Immunity 2007;27:111-122
36. Fife BT, Pauken KE, Eagar TN, Obu T, Wu J, Tang Q, et al. Interactions between PD-1 and PD-L1 promote tolerance by blocking the TCR-induced stop signal. Nat Immunol 2009;10:1185-1192
37. high T regulatory cell function in patients with active systemic lupus erythematosus. J Immunol 2007;178:2579-2588
38. Miyara M, Amoura Z, Parizot C, Badoual C, Dorgham K, Trad S, et al. Global natural regulatory T cell depletion in active systemic lupus erythematosus. J Immunol 2005;175:8392-8400 (Pubitemid 41798406)
39. + T cells in patients with systemic lupus erythematosus. J Immunol 2009;182:1689-1695
40. + regulatory T cells in human lupus erythematosus. Arch Dermatol Res 2009;301:71-81.
41. high T cell population in patients with systemic lupus erythematosus treated with glucocorticoids. Ann Rheum Dis 2006;65:1512-1517
42. Alvarado-Sanchez B, Hernandez-Castro B, Portales-Perez D, Baranda L, Layseca-Espinosa E, Abud-Mendoza C, et al. Regulatory T cells in patients with systemic lupus erythematosus. J Autoimmun 2006;27:110-118 (Pubitemid 44528260)
43. + T cells in peripheral blood of patients with systemic lupus erythematosus. Scand J Immunol 2004;59:198-202.
44. Crispin JC, Martinez A, Alcocer-Varela J. Quantification of regulatory T cells in patients with systemic lupus erythematosus. J Autoimmun 2003;21:273-276 (Pubitemid 37410115)
45. Vargas-Rojas MI, Crispin JC, Richaud-Patin Y, Alcocer-Varela J. Quantitative and qualitative normal regulatory T cells are not capable of inducing suppression in SLE patients due to T-cell resistance. Lupus 2008;17:289-294 (Pubitemid 351655795)
46. + regulatory T cells. J Immunol 2005;175:6265-6270
47. Wang SC, Lin CH, Ou TT, Wu CC, Tsai WC, Hu CJ, et al. Ligands for programmed cell death 1 gene in patients with systemic lupus erythematosus. J Rheumatol 2007;34:721-725 (Pubitemid 46641376)
48. Kitazawa Y, Fujino M, Wang Q, Kimura H, Azuma M, Kubo M, et al. Involvement of the programmed death-1/programmed death-1 ligand pathway in CD4+CD25+ regulatory T-cell activity to suppress alloimmune responses. Transplantation 2007;83:774-782 (Pubitemid 46569197)
49. Marrack P, Kappler J, Kotzin BL. Autoimmune disease: why and where it occurs. Nat Med 2001;7:899-905. (Pubitemid 32756426)
50. Kristjansdottir H, Saevarsdottir S, Grondal G, Alarcon-Riquelme ME, Erlendsson K, Valdimarsson H, et al. Association of three systemic lupus erythematosus susceptibility factors, PD-1.3A, C4AQ0, and low levels of mannan-binding lectin, with autoimmune manifestations in Icelandic multicase systemic lupus erythematosus families. Arthritis Rheum 2008;58:3865-3872