Ethnogenetic heterogeneity of rheumatoid arthritisimplications for pathogenesis

Nature Reviews Rheumatology

Volumn 6, Issue 5, 2010, Pages 290-295

  Kochi, Yuta ^a   Suzuki, Akari ^a   Yamada, Ryo ^b   Yamamoto, Kazuhiko ^c  

^a RIKEN   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; FC RECEPTOR; FC RECEPTOR LIGAND 3; HLA DR ANTIGEN; LYMPHOCYTE ANTIGEN RECEPTOR; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PADI4 ENZYME; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ASIAN; AUTOIMMUNITY; CAUCASIAN; ETHNIC DIFFERENCE; GENE FUNCTION; GENE INTERACTION; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; HUMAN; IMMUNOGENETICS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; RHEUMATOID ARTHRITIS; SMOKING; TRANSCRIPTION REGULATION;

ARTHRITIS, RHEUMATOID; ASIA; AUTOIMMUNE DISEASES; AUTOIMMUNITY; EUROPE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HLA-DR ANTIGENS; HUMANS; HYDROLASES; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; RECEPTORS, IMMUNOLOGIC;

EID: 77951976129     PISSN: 17594790     EISSN: 17594804     Source Type: Journal    
DOI: 10.1038/nrrheum.2010.23     Document Type: Review

References (69)

1. Plenge, R. M. Recent progress in rheumatoid arthritis genetics: one step towards improved patient care. Curr. Opin. Rheumatol. 21, 262-271 (2009).
2. Plenge, R. M. et al. TRAF1-C5 as a risk locus for rheumatoid arthritis-a genomewide study. N. Engl. J. Med. 357, 1199-1209 (2007).
3. Plenge, R. M. et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat. Genet. 39, 1477-1482 (2007).
4. wellcome Trust Case Control Consortium. Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 447, 661-678 (2007).
5. Gregersen, P. K. et al. REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nat. Genet. 41, 820-823 (2009).
6. Shimane, K. et al. The association of a nonsynonymous single?nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the Japanese population. Arthritis Rheum. 62, 574-579 (2010).
7. Remmers, E. F. et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N. Engl. J. Med. 357, 977-986 (2007).
8. Lee, H. S. et al. Association of STAT4 with rheumatoid arthritis in the Korean population. Mol. Med. 13, 455-460 (2007).
9. Kobayashi, S. et al. Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population. Arthritis Rheum. 58, 1940-1946 (2008).
10. Abdel-Nasser, A. M., Rasker, J. J. & valkenburg, H. A. Epidemiological and clinical aspects relating to the variability of rheumatoid arthritis. Semin. Arthritis Rheum. 27, 123-140 (1997).
11. Alamanos, Y. & Drosos, A. A. Epidemiology of adult rheumatoid arthritis. Autoimmun. Rev. 4, 130-136 (2005).
12. Ferucci, E. D., Templin, D. w. & Lanier, A. P. Rheumatoid arthritis in American Indians and Alaska Natives: a review of the literature. Semin. Arthritis Rheum. 34, 662-667 (2005).
13. Klareskog, L. et al. A new model for an etiology of rheumatoid arthritis: smoking may trigger HLA-DR (shared epitope) ?restricted immune reactions to autoantigens modified by citrullination. Arthritis Rheum. 54, 38-46 (2006).
14. Gabriel, S. E. The epidemiology of rheumatoid arthritis. Rheum. Dis. Clin. North Am. 27, 269-281 (2001).
15. Kallberg, H. et al. Gene-gene and gene-environment interactions involving HLA?DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. Am. J. Hum. Genet. 80, 867-875 (2007).
16. Lee, H. S. et al. Interaction between smoking, the shared epitope, and anti?cyclic citrullinated peptide: a mixed picture in three large North American rheumatoid arthritis cohorts. Arthritis Rheum. 56, 1745-1753 (2007).
17. Prugnolle, F. et al. Pathogen?driven selection and worldwide HLA class I diversity. Curr. Biol. 15, 1022-1027 (2005).
18. verity, D. H., Marr, J. E., Ohno, S., wallace, G. R. & Stanford, M. R. Behçet's disease, the Silk Road and HLA-B51: historical and geographical perspectives. Tissue Antigens 54, 213-220 (1999).
19. Newton, J. L., Harney, S. M., wordsworth, B. P. & Brown, M. A. A review of the MHC genetics of rheumatoid arthritis. Genes Immun. 5, 151-157 (2004).
20. du Montcel, S. T. et al. New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility. Arthritis Rheum. 52, 1063-1068 (2005).
21. de vries, N., Tijssen, H., van Riel, P. L. & van de Putte, L. B. Reshaping the shared epitope hypothesis: HLA-associated risk for rheumatoid arthritis is encoded by amino acid substitutions at positions 67-74 of the HLA-DRB1 molecule. Arthritis Rheum. 46, 921-928 (2002).
22. Mattey, D. L. et al. HLA-DRB1 alleles encoding an aspartic acid at position 70 protect against development of rheumatoid arthritis. J. Rheumatol. 28, 232-239 (2001).
23. Evans, T. I., Han, J., Singh, R. & Moxley, G. The genotypic distribution of shared-epitope DRB1 alleles suggests a recessive mode of inheritance of the rheumatoid arthritis diseasesusceptibility gene. Arthritis Rheum. 38, 1754-1761 (1995).
24. Stastny, P. Mixed lymphocyte cultures in rheumatoid arthritis. J. Clin. Invest. 57, 1148-1157 (1976).
25. *0901. Arthritis Rheum. 50, 3468-3475 (2004).
26. Kochi, Y. et al. Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences. Arthritis Rheum. 50, 63-71 (2004).
27. Kong, K. F., Yeap, S. S., Chow, S. K. & Phipps, M. E. HLA-DRB1 genes and susceptibility to rheumatoid arthritis in three ethnic groups from Malaysia. Autoimmunity 35, 235-239 (2002).
28. wakitani, S. et al. The relationship between HLA-DRB1 alleles and disease subsets of rheumatoid arthritis in Japanese. Br. J. Rheumatol. 36, 630-636 (1997).
29. Chan, S. H., Lin, Y. N., wee, G. B., Koh, w. H. & Boey, M. L. HLA class 2 genes in Singaporean Chinese rheumatoid arthritis. Br. J. Rheumatol. 33, 713-717 (1994).
30. Gregersen, P. K., Silver, J. & winchester, R. J. The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum. 30, 1205-1213 (1987).
31. *0901, not its heterozygote, is associated with rheumatoid arthritis in Japanese. Scand. J. Rheumatol. 27, 381-382 (1998).
32. Klareskog, L., Ronnelid, J., Lundberg, K., Padyukov, L. & Alfredsson, L. Immunity to citrullinated proteins in rheumatoid arthritis. Annu. Rev. Immunol. 26, 651-675 (2008). (Pubitemid 351600388)
33. Auger, I. et al. Influence of HLA-DR genes on the production of rheumatoid arthritis-specific autoantibodies to citrullinated fibrinogen. Arthritis Rheum. 52, 3424-3432 (2005).
34. van Gaalen, F. A. et al. Association between HLA class II genes and autoantibodies to cyclic citrullinated peptides (CCPs) influences the severity of rheumatoid arthritis. Arthritis Rheum. 50, 2113-2121 (2004).
35. Furuya, T. et al. Differential association of HLA-DRB1 alleles in Japanese patients with early rheumatoid arthritis in relationship to autoantibodies to cyclic citrullinated peptide. Clin. Exp. Rheumatol. 25, 219-224 (2007).
36. Irigoyen, P. et al. Regulation of anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis: contrasting effects of HLA-DR3 and the shared epitope alleles. Arthritis Rheum. 52, 3813-3818 (2005).
37. verpoort, K. N. et al. Association of HLA-DR3 with anti-cyclic citrullinated peptide antibodynegative rheumatoid arthritis. Arthritis Rheum. 52, 3058-3062 (2005).
38. Suzuki, A. et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat. Genet. 34, 395-402 (2003).
39. 3. J. Biol. Chem. 274, 27786-27792 (1999).
40. Cha, S. et al. Association of anti-cyclic citrullinated peptide antibody levels with PADI4 haplotypes in early rheumatoid arthritis and with shared epitope alleles in very late rheumatoid arthritis. Arthritis Rheum. 56, 1454-1463 (2007).
41. Gandjbakhch, F. et al. A functional haplotype of PADI4 gene in rheumatoid arthritis: positive correlation in a French population. J. Rheumatol. 36, 881-886 (2009).
42. Ikari, K. et al. Association between PADI4 and rheumatoid arthritis: a replication study. Arthritis Rheum. 52, 3054-3057 (2005).
43. Kang, C. P. et al. A functional haplotype of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in Koreans. Arthritis Rheum. 54, 90-96 (2006).
44. Plenge, R. M. et al. Replication of putative candidate-gene associations with rheumatoid arthritis in >4, 000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am. J. Hum. Genet. 77, 1044-1060 (2005).
45. Burr, M. L. et al. PADI4 genotype is not associated with rheumatoid arthritis in a large UK caucasian population. Ann. Rheum. Dis. doi:10.1136/ard. 2009. 111294.
46. Harney, S. M. et al. Genetic and genomic studies of PADI4 in rheumatoid arthritis. Rheumatology (Oxford) 44, 869-872 (2005).
47. Makrygiannakis, D. et al. Smoking increases peptidylarginine deiminase 2 enzyme expression in human lungs and increases citrullination in BAL cells. Ann. Rheum. Dis. 67, 1488-1492 (2008).
48. Mei, L. et al. Evaluating gene × gene and gene × smoking interaction in rheumatoid arthritis using candidate genes in GAw15. BMC Proc. 1 (Suppl. 1), S17 (2007).
49. Begovich, A. B. et al. A missense singlenucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am. J. Hum. Genet. 75, 330-337 (2004).
50. Gregersen, P. K., Lee, H. S., Batliwalla, F. & Begovich, A. B. PTPN22: setting thresholds for autoimmunity. Semin. Immunol. 18, 214-223 (2006).
51. Mori, M., Yamada, R., Kobayashi, K., Kawaida, R. & Yamamoto, K. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J. Hum. Genet. 50, 264-266 (2005).
52. Zhang, Z. H. et al. PTPN22 allele polymorphisms in 15 Chinese populations. Int. J. Immunogenet. 35, 433-437 (2008).
53. Cohen, S., Dadi, H., Shaoul, E., Sharfe, N. & Roifman, C. M. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood 93, 2013-2024 (1999).
54. vang, T. et al. Protein tyrosine phosphatases in autoimmunity. Annu. Rev. Immunol. 26, 29-55 (2008).
55. vang, T. et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat. Genet. 37, 1317-1319 (2005).
56. Arechiga, A. F. et al. Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. J. Immunol. 182, 3343-3347 (2009).
57. Kochi, Y. et al. A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat. Genet. 37, 478-485 (2005).
58. Ikari, K. et al. Supportive evidence for a genetic association of the FCRL3 promoter polymorphism with rheumatoid arthritis. Ann. Rheum. Dis. 65, 671-673 (2006).
59. Umemura, T. et al. Genetic association of Fc receptor-like 3 polymorphisms with autoimmune pancreatitis in Japanese patients. Gut 55, 1367-1368 (2006).
60. Shimada, M. et al. Association of autoimmune disease-related gene polymorphisms with chronic graft-versus-host disease. Br. J. Haematol. 139, 458-463 (2007).
61. Simmonds, M. J. et al. Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. J. Clin. Endocrinol. Metab. 91, 1056-1061 (2006).
62. Burton, P. R. et al. Association scan of 14, 500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat. Genet. 39, 1329-1337 (2007).
63. Newman, w. G. et al. Rheumatoid arthritis association with the FCRL3-169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population. Arthritis Rheum. 54, 3820-3827 (2006).
64. Davis, R. S. Fc receptor-like molecules. Annu. Rev. Immunol. 25, 525-560 (2007).
65. Mendoza, J. L. et al. FcRL3 gene promoter variant is associated with peripheral arthritis in Crohn's disease. Inflamm. Bowel Dis. 15, 1351-1357 (2009).
66. Xu, M. J., Zhao, R., Cao, H. & Zhao, Z. J. SPAP2, an Ig family receptor containing both ITIMs and ITAMs. Biochem. Biophys. Res. Commun. 293, 1037-1046 (2002).
67. Kochi, Y. et al. FCRL3, an autoimmune susceptibility gene, has inhibitory potential on B-cell receptor-mediated signaling. J. Immunol. 183, 5502-5510 (2009).
68. Sakaguchi, N. et al. Altered thymic T-cell selection due to a mutation of the ZAP-70 gene causes autoimmune arthritis in mice. Nature 426, 454-460 (2003).
69. Kumar, K. R. et al. Regulation of B cell tolerance by the lupus susceptibility gene Ly108. Science 312, 1665-1669 (2006).