A promoter region polymorphism in PDCD-1 gene is associated with risk of rheumatoid arthritis in the Han Chinese population of southeastern China

International Journal of Genomics

Volumn 2014, Issue , 2014, Pages

  Liu, Cuiping ^a   Jiang, Juean ^a   Gao, Li ^b,c   Hu, Xiaohan ^b   Wang, Fengming ^d   Shen, Yu ^a   Yu, Gehua ^b   Zhao, Zuotao ^e   Zhang, Xueguang ^a  

^a THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

^b SOOCHOW UNIVERSITY   (China)

^c Wuxi Red Cross Blood Center   (China)

^d Center for Disease Prevention and Control   (China)

^e PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CD4 ANTIGEN; CD69 ANTIGEN; HLA DR ANTIGEN; MESSENGER RNA; PROGRAMMED DEATH 1 LIGAND 1;

ADULT; ALLELE; ARTICLE; CD4+ CD25+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CHINA; CHINESE; CONTROLLED STUDY; EARLY DIAGNOSIS; EXON; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PROMOTER REGION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE ACTIVATION; UPREGULATION;

EID: 84899497518     PISSN: 2314436X     EISSN: 23144378     Source Type: Journal    
DOI: 10.1155/2014/247637     Document Type: Article

References (31)

1. Arnett F. C., Edworthy S. M., Bloch D. A., McShane D. J., Fries J. F., Cooper N. S., Healey L. A., Kaplan S. R., Liang M. H., Luthra H. S., Medsger T. A. Jr., Mitchell D. M., Neustadt D. H., Pinals R. S., Schaller J. G., Sharp J. T., Wilder R. L., Hunder G. G., The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis and Rheumatism 1988 31 3 315 324 2-s2.0-0023945481
2. Klareskog L., Catrina A. I., Paget S., Rheumatoid arthritis. The Lancet 2009 373 9664 659 672 2-s2.0-60249090304 10.1016/S0140-6736(09)60008-8
3. McInnes I. B., Schett G., The pathogenesis of rheumatoid arthritis. The New England Journal of Medicine 2011 365 23 2205 2219 2-s2.0-84855172814
4. Gol-Ara M., Jadidi-Niaragh F., Sadria R., The role of different subsets of regulatory T cells in immunopathogenesis of rheumatoid arthritis. Arthritis 2012 2012 16 805875 10.1155/2012/805875
5. Keir M. E., Butte M. J., Freeman G. J., Sharpe A. H., PD-1 and its ligands in tolerance and immunity. Annual Review of Immunology 2008 26 677 704 2-s2.0-42649125225 10.1146/annurev.immunol.26.021607.090331
6. Francisco L. M., Sage P. T., Sharpe A. H., The PD-1 pathway in tolerance and autoimmunity. Immunological Reviews 2010 236 1 219 242 2-s2.0-77953747963 10.1111/j.1600-065X.2010.00923.x
7. Parry R. V., Chemnitz J. M., Frauwirth K. A., Lanfranco A. R., Braunstein I., Kobayashi S. V., Linsley P. S., Thompson C. B., Riley J. L., CTLA-4 and PD-1 receptors inhibit T-cell activation by distinct mechanisms. Molecular and Cellular Biology 2005 25 21 9543 9553 2-s2.0-27144496045 10.1128/MCB.25.21.9543- 9553.2005
8. -/- mice as an efficient animal model of type I diabetes. Proceedings of the National Academy of Sciences of the United States of America 2005 102 33 11823 11828 2-s2.0-23844529169 10.1073/pnas.0505497102
9. 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 2 141 151 2-s2.0-0033180181 10.1016/S1074-7613(00)80089-8
10. Okazaki T., Honjo T., PD-1 and PD-1 ligands: from discovery to clinical application. International Immunology 2007 19 7 813 824 2-s2.0-34547794178 10.1093/intimm/dxm057
11. Bertsias G. K., Nakou M., Choulaki C., Raptopoulou A., Papadimitraki E., Goulielmos G., Kritikos H., Sidiropoulos P., Tzardi M., Kardassis D., Mamalaki C., Boumpas D. T., Genetic, immunologic, and immunohistochemical analysis of the programmed death 1/programmed death ligand 1 pathway in human systemic lupus erythematosus. Arthritis and Rheumatism 2009 60 1 207 218 2-s2.0-58249094864 10.1002/art.24227
12. 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 and Rheumatism 2004 50 6 1770 1773 2-s2.0-2642575164 10.1002/art.20280
13. Kong E. K., Prokunina-Olsson L., Wong W. H., Lau C., Chan T., Alarcón-Riquelme M., Lau Y., A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese. Arthritis and Rheumatism 2005 52 4 1058 1062 2-s2.0-17244383354 10.1002/art.20966
14. 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. Annals of Neurology 2005 58 1 50 57 2-s2.0-21844451620 10.1002/ana.20514
15. 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 6 492 497 2-s2.0-0344099132 10.1046/j.1399-0039.2003.00136.x
16. Ni R., Ihara K., Miyako K., Kuromaru R., Inuo M., Kohno H., Hara T., PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children. Human Genetics 2007 121 2 223 232 2-s2.0-33947097389 10.1007/s00439-006-0309-8
17. 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. Journal of Experimental Medicine 2006 203 4 883 895 2-s2.0-33645846313 10.1084/jem.20051776
18. 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. A., Insulin-induced remission in new-onset NOD mice is maintained by the PD-1-PD-L1 pathway. Journal of Experimental Medicine 2006 203 12 2737 2747 2-s2.0-33751552197 10.1084/jem.20061577
19. Fife B. T., Pauken K. E., Eagar T. N., Obu T., Wu J., Tang Q., Azuma M., Krummel M. F., Bluestone J. A., Interactions between PD-1 and PD-L1 promote tolerance by blocking the TCR-induced stop signal. Nature Immunology 2009 10 11 1185 1192 2-s2.0-70350433514 10.1038/ni.1790
20. Wang G., Hu P., Yang J., Shen G., Wu X., The effects of PDL-Ig on collagen-induced arthritis. Rheumatology International 2011 31 4 513 519 2-s2.0-79954451635 10.1007/s00296-009-1249-0
21. Raptopoulou A. P., Bertsias G., Makrygiannakis D., Verginis P., Kritikos I., Tzardi M., Klareskog L., Catrina A. I., Sidiropoulos P., Boumpas D. T., The programmed death 1/programmed death ligand 1 inhibitory pathway is up-regulated in rheumatoid synovium and regulates peripheral T cell responses in human and murine arthritis. Arthritis and Rheumatism 2010 62 7 1870 1880 2-s2.0-77954220941 10.1002/art.27500
22. Prokunina L., Castillejo-López C., Öberg F., Gunnarsson I., Berg L., Magnusson V., Brookes A. J., Tentler D., Kristjansdóttir H., Gróndal G., Isine Bolstad A., 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. Nature Genetics 2002 32 4 666 669 2-s2.0-13244277850 10.1038/ng1020
23. Wang S., Chen Y., Ou T., Wu C., Tsai W., Liu H., Yen J., Programmed death-1 gene polymorphisms in patients with systemic lupus erythematosus in Taiwan. Journal of Clinical Immunology 2006 26 6 506 511 2-s2.0-33751094550 10.1007/s10875-006-9048-9
24. 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. Molecular Vision 2009 15 386 392 2-s2.0-61849084662
25. de Vooght K. M. K., van Solinge W. W., Gene promoter analysis in molecular diagnostics: do or don't? Expert Review of Molecular Diagnostics 2009 9 5 403 405 2-s2.0-67650462326 10.1586/erm.09.28
26. Tahoori M. T., Pourfathollah A. A., Akhlaghi M., Daneshmandi S., Nicknam M. H., Soleimanifar N., Association of programmed cell death-1 (PDCD-1) gene polymorphisms with rheumatoid arthritis in Iranian patients. Clinical and Experimental Rheumatology 2011 29 5 763 767 2-s2.0-83455249773
27. Hua Z., Li D., Xu F., Xiang G., Jie G., Fu Z., Jie Z., Da P., Li D., PD-1 polymorphisms are associated with sporadic breast cancer in Chinese Han population of Northeast China. Breast Cancer Research and Treatment 2011 129 1 195 201 2-s2.0-79960841055 10.1007/s10549-011-1440-3
28. Khoury S. J., Sayegh M. H., The roles of the new negative T cell costimulatory pathways in regulating autoimmunity. Immunity 2004 20 5 529 538 2-s2.0-2442461055 10.1016/S1074-7613(04)00116-5
29. Okazaki T., Honjo T., The PD-1-PD-L pathway in immunological tolerance. Trends in Immunology 2006 27 4 195 201 2-s2.0-33645863160 10.1016/j.it.2006.02. 001
30. Martin-Orozco N., Wang Y., Yagita H., Dong C., Cutting edge: programed death (PD) ligand-1/PD-1 interaction is required for CD8+ T cell tolerance to tissue antigens. Journal of Immunology 2006 177 12 8291 8295 2-s2.0-33845456174
31. Hatachi S., Iwai Y., Kawano S., Morinobu S., Kobayashi M., Koshiba M., Saura R., Kurosaka M., Honjo T., Kumagai S., CD4+ PD-1+ T cells accumulate as unique anergic cells in rheumatoid arthritis synovial fluid. Journal of Rheumatology 2003 30 7 1410 1419 2-s2.0-0038505613