The shared epitope hypothesis in rheumatoid arthritis: Evaluation of alternative classification criteria in a large UK Caucasian cohort

Arthritis and Rheumatism

Volumn 58, Issue 5, 2008, Pages 1275-1283

  Morgan, Ann W ^a,b   Haroon Rashid, Lubna ^a   Martin, Stephen G ^a   Gooi, Hock Chye ^b   Worthington, Jane ^c   Thomson, Wendy ^c   Barrett, Jennifer H ^a   Emery, Paul ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ASPARTIC ACID; HLA DR ANTIGEN;

ADULT; ALLELE; ARTICLE; CAUCASIAN; CLASSIFICATION; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HYPOTHESIS; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; RISK ASSESSMENT; UNITED KINGDOM;

ARTHRITIS, RHEUMATOID; EPITOPES; EUROPEAN CONTINENTAL ANCESTRY GROUP; GREAT BRITAIN; HLA-DR ANTIGENS; HUMANS;

EID: 43949132125     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.23432     Document Type: Article

References (46)

1. Pincus T, Callahan LF. What is the natural history of rheumatoid arthritis? Rheum Dis Clin North Am 1993;19:123-51.
2. Reveille JD. The genetic contribution to the pathogenesis of rheumatoid arthritis. Curr Opin Rheumatol 1998;10:187-200.
3. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-78.
4. Deighton CM, Walker DJ, Griffiths ID, Roberts DF. The contribution of HLA to rheumatoid arthritis. Clin Genet 1989;36:178-82.
5. Wordsworth BP. HLA class II antigens in susceptibility to rheumatoid arthritis. Br J Rheumatol 1991;30:151-2.
6. Tezenas du Montcel S, Michou L, Petit-Teixeira E, Osorio J, Lemaire I, Lasbleiz S, et al. New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility. Arthritis Rheum 2005;52:1063-8.
7. De Vries N, Tijssen H, van Riel PL, van de Putte LB. 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 2002;46:921-8.
8. Mattey DL, Dawes PT, Gonzalez-Gay MA, Garcia-Porrua C, Thomson W, Hajeer AH, et al. HLA-DRB1 alleles encoding aspartic acid at position 70 protect against the development of rheumatoid arthritis. J Rheumatol 2001;28:232-9.
9. Reviron D, Perdriger A, Toussirot E, Wendling D, Balandraud N, Guis S, et al. Influence of shared epitope-negative HLA-DRB1 alleles on genetic susceptibility to rheumatoid arthritis. Arthritis Rheum 2001;44:535-40.
10. Gibert M, Balandraud N, Touinssi M, Mercier P, Roudier J, Reviron D. Functional categorization of HLA-DRB1 alleles in rheumatoid arthritis: the protective effect. Hum Immunol 2003;64:930-5.
11. Gregersen PK, Silver J, Winchester RJ. The shared epitope hypothesis: an approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum 1987;30:1205-13.
12. Stastny P. Association of the B-cell alloantigen DRw4 with rheumatoid arthritis. N Engl J Med 1978;298:869-71.
13. Todd JA, Acha-Orbea H, Bell JI, Chao N, Fronek Z, Jacob CO, et al. A molecular basis for MHC class II associated autoimmunity. Science 1988;240:1003-9.
14. Winchester R. The molecular basis of susceptibility to rheumatoid arthritis. Adv Immunol 1994;56:389-466.
15. Wordsworth P, Pile KD, Buckely JD, Lanchbury JS, Ollier B, Lathrop M, et al. HLA heterozygosity contributes to susceptibility to rheumatoid arthritis. Am J Hum Genet 1992;51:585-91.
16. MacGregor A, Ollier W, Thompson W, Jawaheer D, Silman A. HLA-DRB1*0401/0404 genotype and rheumatoid arthritis: increased association in men, young age at onset, and disease severity. J Rheumatol 1995;22:1032-6.
17. Meyer JM, Han J, Singh R, Moxley G. Sex influences on the penetrance of HLA shared-epitope genotypes for rheumatoid arthritis. Am J Hum Genet 1996;58:371-83.
18. Genin E, Babron MC, McDermott MF, Mulcahy B, Waldron-Lynch F, Adams C, et al. Modelling the major histocompatibility complex susceptibility to RA using the MASC method. Genet Epidemiol 1998;15:419-30.
19. Rigby AS, MacGregor AJ, Thomson G. HLA haplotype sharing in rheumatoid arthritis sibships: risk estimates subdivided by proband genotype. Genet Epidemiol 1998;15:403-18.
20. Larsen BA, Alderdice CA, Hawkins D, Martin JR, Mitchell DM, Sheridan DP. Protective HLA-DR phenotypes in rheumatoid arthritis. J Rheumatol 1989;16:455-8.
21. Wakitani S, Murata N, Toda Y, Ogawa R, Kaneshige T, Nishimura Y, et al. The relationship between HLA-DRB1 alleles and disease subsets of rheumatoid arthritis in Japanese. Br J Rheumatol 1997;36:630-6.
22. Del Rincon I, Escalante A. HLA-DRB1 alleles associated with susceptibility or resistance to rheumatoid arthritis, articular deformities, and disability in Mexican Americans. Arthritis Rheum 1999;42:1329-38.
23. Michou L, Croiseau P, Petit-Teixeira E, Tezenas du Montcel S, Lemaire I, Pierlot C, et al, for the European Consortium on Rheumatoid Arthritis Families. Validation of the reshaped shared epitope HLA-DRB1 classification in rheumatoid arthritis. Arthritis Res Ther 2006;8:R79.
24. Gourraud PA, Boyer JF, Barnetche T, Abbal M, Cambon-Thomsen A, Cantagrel A, et al. A new classification of HLA-DRB1 alleles differentiates predisposing and protective alleles for rheumatoid arthritis structural severity. Arthritis Rheum 2006;54:593-9.
25. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988;31:315-24.
26. Morgan AW, Keyte VH, Babbage SJ, Robinson JI, Ponchel F, Barrett JH, et al. FcγRIIIA-158V and rheumatoid arthritis: a confirmation study. Rheumatology (Oxford) 2003;42:528-33.
27. Voorter C, van den Berg-Loonen E. Sequence-based typing for HLA DRB1 and DRB3/4/5 strategy for ALF express. In: Tilanus MG, editor. IHWG technical manual. Genomic analysis of the human MHC: DNA-based typing for HLA alleles and linked polymorphisms. Seattle (WA): IHWG Publications; 2001. p. TM10B-1-7.
28. Darke C, Guttridge MG, Thompson J, McNamara S, Street J, Thomas M. HLA class I (A, B) and II (DR, DQ) gene and haplotype frequencies in blood donors from Wales. Exp Clin Immunogenet 1998;15:69-83.
29. Gans CP, Tang TF, Slack R, Ng J, Hartzman RJ, Hurley CK. DRB1*14 diversity and DRB3 associations in four major population groups in the United States. Tissue Antigens 2002;59:364-9.
30. Galgani A, Petrone A, Spoletini M, Hodge A, Del Buono ML, Locatelli M, et al. HLA class II typing in newborns reveals a low frequency of the DRB1*04 allele and a high frequency of the DRB1*11 allele in three regions of continental Italy. Hum Immunol 2004;65:366-72.
31. Chen DS, Tang TF, Pulyaeva H, Slack R, Tu B, Wagage D, et al. Relative HLA-DRB1*04 allele frequencies in five United States populations found in hematopoietic stem cell volunteer donor registry and seven new DRB1*04 alleles. Hum Immunol 2002;63:665-72.
32. Tang TF, Huang AY, Pappas A, Slack R, Ng J, Hartzman RJ, et al. Relative frequencies of DRB1*11 alleles and their DRB3 associations in five major population groups in a United States bone marrow registry. Hum Immunol 2000;61:820-7.
33. Sintasath DM, Tang T, Slack R, Tilley EE, Ng J, Hartzman RJ, et al. Relative HLA-DRB1*13 allele frequencies and DRB3 associations of unrelated individuals from five US populations. Hum Immunol 1999;60:1001-10.
34. Rizzuto G, Li L, Steiner N, Slack R, Tang T, Heine U, et al. Diversity within the DRB1*08 allele family in four populations from a United States hematopoietic stem cell donor database and characterization of five novel DRB1*08 alleles. Hum Immunol 2003;64:607-13.
35. Collins MM, Tang T, Slack R, Sintasath D, Hartzman RJ, Ng J, et al. The relative frequencies of HLA-DRB1*01 alleles in the major US populations. Tissue Antigens 2000;55:48-52.
36. Milicic A, Lee D, Brown MA, Darke C, Wordsworth BP. HLA-DR/DQ haplotype in rheumatoid arthritis: novel allelic associations in UK Caucasians. J Rheumatol 2002;29:1821-6.
37. Robinson J, Waller MJ, Parham P, de Groot N, Bonthrop R, Kennedy LJ, et al. IMGT/HLA and IMGT/MHC: sequence databases for the study of the major histocompatibility complex. Nucleic Acids Res 2003;31:311-4.
38. Zaykin DV, Westfall PH, Young SS, Karnoub MA, Wagner MJ, Ehm MG. Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals. Hum Hered 2002;53:79-91.
39. Stern LJ, Brown JH, Jardetzky TS, Gorga JC, Urban RG, Strominger JL, et al. Crystal structure of the human class II MHC protein HLA-DR1 complexed with an influenza virus peptide. Nature 1994;368:215-21.
40. Van der Helm-van Mil AH, Huizinga TW, Schreuder GM, Breedveld FC, de Vries RR, Toes RE. An independent role of protective HLA class II alleles in rheumatoid arthritis severity and susceptibility. Arthritis Rheum 2005;52:2637-44.
41. Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, Khodiyar VK, et al. Gene map of the extended human MHC. Nat Rev Genet 2004;5:889-99.
42. Zanelli E, Huizinga TW, Guerne PA, Vischer TL, Tiercy JM, Verduyn W, et al. An extended HLA-DQ-DR haplotype rather than DRB1 alone contributes to RA predisposition. Immunogenetics 1998;48:394-401.
43. Van der Horst-Bruinsma IE, Visser J, Hazes JM, Breedveld FC, Verduyn W, Schreuder GM, et al. HLA-DQ-associated predisposition to and dominant HLA-DR-associated protection against rheumatoid arthritis. Hum Immunol 1999;60:152-8.
44. Newton JL, Harney SM, Wordsworth BP, Brown MA. A review of the MHC genetics of rheumatoid arthritis. Genes Immun 2004;5:151-7.
45. Lanchbury JS, Jaeger EE, Sansom DM, Hall MA, Wordsworth P, Stedeford J, et al. Strong primary selection for the Dw4 subtype of DR4 accounts for the HLA-DQw7 association with Felty's syndrome. Hum Immunol 1991;32:56-64.
46. Van der Helm-van Mil AH, Verpoort KN, Breedveld FC, Huizinga TW, Toes RE, de Vries RR. The HLA-DRB1 shared epitope alleles are primarily a risk factor for anti-cyclic citrullinated peptide antibodies and are not an independent risk factor for development of rheumatoid arthritis. Arthritis Rheum 2006;54:1117-21.