Genetic polymorphisms and surface expression of CTLA-4 and PD-1 on T cells of silica-exposed workers

International Journal of Hygiene and Environmental Health

Volumn 215, Issue 6, 2012, Pages 562-569

  Rocha, Michelle C ^a   Santos, Leonilda M B ^a   Bagatin, Ericson ^a   Tervaert, Jan W Cohen ^b   Damoiseaux, Jan G M C ^b   Lido, Alessandro V ^a   Longhini, Ana L ^a   Torello, Cristiane O ^a   Queiroz, Mary L S ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autoimmunity; CTLA 4; PD 1; Polymorphisms; Silica; T cells

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; PDCD1 PROTEIN, HUMAN; PROGRAMMED DEATH 1 RECEPTOR; SILICON DIOXIDE;

AGED; ARTICLE; CASE CONTROL STUDY; CD4 LYMPHOCYTE COUNT; FEMALE; FLOW CYTOMETRY; GENETICS; HUMAN; IMMUNOLOGY; MALE; METABOLISM; MIDDLE AGED; OCCUPATIONAL EXPOSURE; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE;

AGED; CASE-CONTROL STUDIES; CD4 LYMPHOCYTE COUNT; CTLA-4 ANTIGEN; FEMALE; FLOW CYTOMETRY; HUMANS; MALE; MIDDLE AGED; OCCUPATIONAL EXPOSURE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGRAMMED CELL DEATH 1 RECEPTOR; SILICON DIOXIDE; T-LYMPHOCYTES;

EID: 84865039019     PISSN: 14384639     EISSN: 1618131X     Source Type: Journal    
DOI: 10.1016/j.ijheh.2011.10.010     Document Type: Article

References (55)

1. Ahmed S., Ihara K., Kanemitsu S., Nakashima H., Otsuka T., Tsuzaka K., Takeuchi T., Hara T. Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population. Rheumatology 2001, 40:662-667.
2. Bagatin E., Jardim J.R., Nery L.E., Capitani E.M., Marchi E., Sabino M.O., Hengler A.C. Ocorrência de silicose pulmonar na região de Campinas-SP. J. Pneumol. 1995, 21:17-26.
3. Blazar B.R., Carreno B.M., Panoskaltsis-Mortari A., Carter L., Iwai Y., Yagita H., Nishimura H., Taylor P.A. Blockade of programmed death-1 engagement accelerates graft-versus-host disease lethality by an IFN-gamma-dependent mechanism. J. Immunol. 2003, 171:1272-1277.
4. Chambers C.A., Allison J.P. Co-stimulation in T cell responses. Curr. Opin. Immunol. 1997, 9:396-404.
5. Cohen Tervaert J.W., Stegeman C.A., Kallenberg C.G. Silicon exposure and vasculitis. Curr. Opin. Rheumatol. 1998, 10:12-17.
6. Dinesh R.K., Hahn B.H., Singh R.P. PD-1, gender, and autoimmunity. Autoimmun. Rev. 2010, 9:583-587.
7. Dong C., Nurieva R.I., Prasad D.V. Immune regulation by novel costimulatory molecules. Immunol. Res. 2003, 28:39-48.
8. Dornmair K., Goebels N., Weltzien H.-U., Wekerle H., Hohlfeld R. T-cell-mediated autoimmunity: novel techniques to characterize autoreactive T-cell receptors. Am. J. Pathol. 2003, 163:1215-1226.
9. Ferreiros-Vidal I., Gomez-Reino J.J., Barros F., Carracedo A., Carreira P., Gonzalez-Escribano F., Liz M., Martin J., Ordi J., Vicario J.L., Gonzales A. Association of PDCD1 with susceptibility to systemic lupus erythematosus: evidence of population-specific effects. Arthritis Rheum. 2004, 50:2590-2597.
10. Fife B.T., Guleria I., Bupp M.G., Eagar T.N., Tang Q., Bour-Jordan H., Yagita H., Azuma M., Sayegh M.H., Bluestone J.R.A. Insulin-induced remission in new-onset NOD mice is maintained by the PD-1-PD-L1 pathway. J. Exp. Med. 2006, 203:2737-2747.
11. Giscombe R., Wang X., Huang D., Lefvert A.K. Coding sequence 1 and promoter single nucleotide polymorphisms in the CTLA-4 gene in Wegener's granulomatosis. J. Rheumatol. 2002, 29:950-953.
12. Greenwald R.J., Freeman G.J., Sharpe A.H. The B7 family revisited. Annu. Rev. Immunol. 2005, 23:515-548.
13. Gribben J.G., Freeman G.J., Boussiotis V.A., Rennert P., Jellis C.A., Greenfield E., Barber M., Restivo V.A.J., Ke X., Gray S.C., Nadler L.M. CTLA-4 mediates antigen-specific apoptosis of human T cells. PNAS 1995, 92:811-815.
14. Huang D., Giscombe R., Zhou Y., Lefvert A.K. Polymorphisms in CTLA-4 but not tumor necrosis factor-alpha or interleukin 1beta genes are associated with Wegener's granulomatosis. J. Rheumatol. 2000, 27:397-401.
15. Huang D., Giscombe R., Zhou Y., Pirskanen R., Lefvert A.K. Dinucleotide repeat expansion in the CTLA-4 gene leads to T cell hyper-reactivity via the CD28 pathway in myasthenia gravis. J. Neuroimmunol. 2000, 105:69-77.
16. International Labour Office Guidelines for the use of ILO international classification of radiographs of pneumoconiosis. Occupational safety and health series, 22 (rev) 2000, ILO, Genebra.
17. Karabon L., Kosmaczewska A., Bilinska M., Pawlak E., Ciszak L., Jedynak A., Jonkisz A., Noga L., Pokryszko-Dragan A., Koszewicz M., Frydecka I. The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease. Immunology 2009, 128:e787-e796.
18. Karandikar N.J., Vanderlugt C.L., Walunas T.L., Miller S.D., Bluestone J.A. CTLA-4: a negative regulator of autoimmune disease. J. Exp. Med. 1996, 184:783-788.
19. Kavvoura F.K., Ioannidis J.P.A. CTLA-4 gene polymorphisms and susceptibility to type 1 diabetes mellitus: a HuGE review and meta-analysis. Am. J. Epidemiol. 2005, 162:3-16.
20. Keir M.E., Liang S.C., Guleria I., Latchman Y.E., Qipo A., Albacker L.A., Koulmanda M., Freeman G.J., Sayegh M.H., Sharpe A.H. Tissue expression of PD-L1 mediates peripheral T cell tolerance. J. Exp. Med. 2006, 203:883-895.
21. Keir M.E., Francisco L.M., Sharpe A.H. PD-1 and its ligands in T-cell immunity. Curr. Opin. Immunol. 2007, 19:309-314.
22. King C., Ilic A., Koelsch K., Sarvetnick N. Homeostatic expansion of T cells during immune insufficiency generates autoimmunity. Cell 2004, 117:265-277.
23. Kong E.K.P., Prokunina-Olsson L., Wong W.H.S., Lau C.S., Chan T.M., Alarcón-Riquelme M., Lau Y.L. A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis Rheum. 2005, 52:1058-1062.
24. Kouki T., Sawai Y., Gardine C.A., Fisfalen M.E., Alegre M.L., DeGroot L.J. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease. J. Immunol. 2000, 165:6606-6611.
25. Kristjansdottir H., Steinsson K., Gunnarsson I., Gröndal G., Erlendsson K., Alarcón-Riquelme M.E. 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 Rheum. 2010, 62:1702-1711.
26. Kroner A., Mehling M., Hemmer B., Rieckmann P., Toyka K.V., Mäurer M., Wiendl H. A PD-1 polymorphism is associated with disease progression in multiple sclerosis. Ann. Neurol. 2005, 58:50-57.
27. Ligers A., Teleshova N., Masterman T., Huang W.X., Hillert J. CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms. Genes Immun. 2001, 2:145-152.
28. Lin S.C., Yen J.H., Tsai J.J., Tsai W.C., Ou T.T., Liu H.W., Chen C.J. 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. Luhder F., Hoglund P., Allison J.P., Benoist C., Mathis D. Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) regulates the unfolding of autoimmune diabetes. J. Exp. Med. 1998, 18:427-432.
30. Meng Q., Liu X., Yang P., Hou S., Du L., Zhou H., Kijlstra A. PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome. Mol. Vis. 2009, 15:386-392.
31. Nielsen C., Hansen D., Husby S., Jacobsen B.B., Lillevang S.T. Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. Tissue Antigens 2003, 62:492-497.
32. Nishimura H., Minato N., Nakano T., Honjo T. Immunological studies on PD-1 deficient mice: implication of PD-1 as a negative regulator for B cell responses. Int. Immunol. 1998, 10:1563-1572.
33. 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 motifcarrying immunoreceptor. Immunity 1999, 11:141-151.
34. Nishimura H., Okazaki T., Tanaka Y., Nakatani K., Hara M., Matsumori A., Sasayama S., Mizoguchi A., Hiai H., Minato N., Honjo T. Autoimmune dilated cardiomyopathy in PD-1 receptor-deficient mice. Science 2001, 291:319-322.
35. Parks C.G., Conrad K., Cooper G.S. Occupational exposure to crystalline silica and autoimmune disease. Environ. Health Perspect. 1999, 107:793-802.
36. Perrin P.J., Maldonado J.H., Davis T.A., June C.H., Racke M.K. CTLA-4 blockage enhances clinical disease and cytokine production during experimental allergic encephalomyelitis. J. Immunol. 1996, 157:1333-1336.
37. + T cell tolerance through PD-1 and CTLA-4. Nat. Immunol. 2005, 6:280-286.
38. Prokunina L., Castillejo-López C., Oberg F., Gunnarsson I., Berg L., Magnusson V., Brookes A.J., Tentler D., Kristjansdóttir H., Gröndal G., Bolstad A.I., Svenungsson E., Lundberg I., Sturfelt G., Jönssen A., Truedsson L., Lima G., Alcocer-Varela J., Jonsson R., Gyllensten U.B., Harley J.B., Alarcón-Segovia D., Steinsson K., Alarcón-Riquelme M.E. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat. Genet. 2002, 32:666-669.
39. Prokunina L., Padyukov L., Bennet A., De Faire U., Wiman B., Prince J., Alfredsson L., Klareskog L., Alarcón-Riquelme M. 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.
40. Prokunina L., Gunnarsson I., Sturfelt G., Truedsson L., Seligman V.A., Olson J.L., Seldin M.F., Criswell L.A., Alarcón-Riquelme M.E. The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis. Arthritis Rheum. 2004, 50:327-328.
41. Rodriguez M.R., Nunez-Roldan A., Aguilar F., Valenzuela A., Garcia A., Gonzalez-Escribano M.F. Association of the CTLA4 30 untranslated region polymorphism with the susceptibility to rheumatoid arthritis. Hum. Immunol. 2002, 63:76-78.
42. Rosenman K.D., Moore-Fuller M. Connective tissue diseases and silicosis. Am. J. Ind. Med. 1999, 35:375-381.
43. Salama A.D., Chitnis T., Imitola J., Ansari M.J., Akiba H., Tushima F., Azuma M., Yagita H., Sayegh M.H., Khoury S.J. Critical role of the programmed death-1 (PD-1) pathway in regulation of experimental autoimmune encephalomyelitis. J. Exp. Med. 2003, 198:71-78.
44. Sanghera D.K., Manzi S., Bontempo F., Nestlerode C., Kamboh M.I. 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.
45. Seidl C., Donner H., Fischer B., Usadel K.H., Seifried E., Kaltwasser J.P., Badenhoop K. CTLA-4 codon 17 dimorphism in patients with rheumatoid arthritis. Tissue Antigens 1998, 51:62-66.
46. Sharpe A.H., Freeman G.J. The B7-CD28 superfamily. Nat. Rev. Immunol. 2002, 2:116-126.
47. Slavin R.E., Swendo J.L., Brandes D., Gonzalez-Vitale J.C., Osomio-Vargas A. Extrapulmonary silicosis: a clinical, morphological, and ultrastructural study. Hum. Pathol. 1985, 16:393-412.
48. Slot M.C., Sokolowska M.G., Savelkouls K.G., Janssen R.G.J.H., Damoiseaux J.G.M.C., Tervaert J.W.C. Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis. Clin. Immunol. 2008, 128:39-45.
49. Steenland K., Goldsmith D.F. Silica exposure and autoimmune diseases. Am. J. Ind. Med. 1995, 28:603-608.
50. Subra J.F., Renier G., Reboul P., Tollis F., Boivinet R., Schwartz P., Chevailler A. Lymphopenia in occupational pulmonary silicosis with or without autoimmune disease. Clin. Exp. Immunol. 2001, 126:540-544.
51. Thorburn C.M., Prokunina-Olsson L., Sterba K.A., Lum R.F., Seldin M.F., Alarcon-Riquelme M.E., Criswell L.A. Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort. Genes Immun. 2007, 8:279-287.
52. Tivol E.A., Borriello F., Schweitzer A.N., Lynch W.P., Bluestone J., Sharpe A.H. Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4. Immunity 1995, 3:541-547.
53. Waterhouse P., Penninger J.M., Timms E., Wakeham A., Shahinian A., Lee K.P., Thompson C.B., Griesser H., Mak T.W. Lymphoproliferative disorders with early lethality in mice deficient in CTLA-4. Science 1995, 270:985-988.
54. Zandman-Goddard G., Peeva E., Shoenfeld Y. Gender and autoimmunity. Autoimmun. Rev. 2007, 6:366-372.
55. Zhou Y., Huang D., Paris P.L., Sauter C.S., Prock K.A., Hoffman G.S. An analysis of CTLA-4 and proinflammatory cytokine genes in Wegener's granulomatosis. Arthritis Rheum. 2004, 50:2645-2650.