Influence of the HLA-DRB1 locus on susceptibility and severity in rheumatoid arthritis

QJM: An International Journal of Medicine

Volumn 89, Issue 11, 1996, Pages 821-829

  Hall, F C ^a   Weeks, D E ^b,c   Camilleri, J P ^d   Williams, L A ^d   Amos, N ^d   Darke, C ^e   Gibson, K ^a   Pile, K ^a   Wordsworth, B P ^a   Jessop, J D ^d  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF PITTSBURGH   (United States)

^d UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^e Regional Tissue Typing Laboratory   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HLA DR ANTIGEN;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; RISK;

EID: 1842383327     PISSN: 00335622     EISSN: None     Source Type: Journal    
DOI: 10.1093/qjmed/89.11.821     Document Type: Article

References (47)

1. Wordsworth BP, Bell JI. The immunogenetics of rheumatoid arthritis. Springer Semin Immunopathol 1992; 14:59-78.
2. Winchester R. The molecular basis of susceptibility to rheumatoid arthritis. Adv Immunol 1994; 56:389-466.
3. Bodmer JG, Marsh SG, Albert ED, et al. Nomenclature for factors of the HLA system, 1994. Tissue Antigens 1994; 44:1-18.
4. 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.
5. Wordsworth BP, Lanchbury JS, Sakkas LI, Welsh KI, Panayi GS, Bell JI. HLA-DR4 subtype frequencies in rheumatoid arthritis indicate that DRB1 is the major susceptibility locus within the HLA class II region. Proc Natl Acad Sci USA 1989; 86:10049-53.
6. Gao XJ, Olsen NJ, Pincus T, Stastny P. HLA-DR alleles with naturally occurring amino acid substitutions and risk for development of rheumatoid arthritis [see comments]. Arthritis Rheum 1990; 33:939-46.
7. Jaraquemada D, Ollier W, Awad J, et al. HLA and rheumatoid arthritis: a combined analysis of 440 British patients. Ann Rheum Dis 1986; 45:627-36.
8. Taneja V, Mehra NK, Kailash S, Anand D, Malaviya AN. Protective and risk DR phenotypes in Asian Indian patients with rheumatoid arthritis. Indian J Med Res 1992; 96:16-23.
9. Fu XT, Bono CP, Woulfe SL, et al. Pocket 4 of the HLA-DR (alpha, beta 1 *0401) molecule is a major determinant of T cells recognition of peptide. J Exp Med 1995; 181:915-26.
10. Woulfe SL, Bono CP, Zacheis ML, et al. Negatively charged residues interacting with the p4 pocket confer binding specificity to DRB1*0401. Arthritis Rheum 1995; 38:1744-53.
11. Rigby AS, Silman AJ, Voelm L, et al. Investigating the HLA component in rheumatoid arthritis: an additive (dominant) mode of inheritance is rejected, a recessive mode is preferred. Genet Epidemiol 1991; 8:153-75.
12. Jawaheer D, Thomson W, MacGregor AJ, et al. 'Homozygosity' for the HLA-DR shared epitope contributes the highest risk for rheumatoid arthritis concordance in identical twins. Arthritis Rheum 1994; 37:681-6.
13. Wordsworth BP, Pile KD, Buckley JD, et al. HLA heterozygosity contributes to susceptibility to rheumatoid arthritis. Am J Hum Genet 1992; 51:585-91.
14. MacGregor A, Ollier W, Thomson 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.
15. Benazet JF, Reviron D, Mercier P, Roux H, Roudier J. HLA-DRB1 alleles associated with rheumatoid arthritis in southern France. Absence of extraarticular disease despite expression of the shared epitope. J Rheumatol 1995; 22:607-10.
16. Westedt ML, Breedveld FC, Schreuder GM, D'Amaro J, Cats A, de-Vries RR. Immunogenetic heterogeneity of rheumatoid arthritis. Ann Rheum Dis 1986; 45:534-8.
17. Dejongh BM, K.J. vR, Valkenburg HA, et al. Epidemiological study of HLA and GM in rheumatoid arthritis and related symptoms in an open Dutch population. Ann Rheum Dis 1984; 43:613-19.
18. Symmons DPM, Barrett EM, Scott DGI, Silman AJ. The Norfolk arthritis register study of the incidence of RA. Br J Rheumatol 1990; 29(Suppl 2):79.
19. Eberhardt K, Grubb R, Johnson U, Pettersson H. HLA-DR antigens, Gm allotypes and antiallotypes in early rheumatoid arthritis-their relation to disease progression [see comments]. J Rheumatol 1993; 20:1825-9.
20. Young A, Jaraquemada D, Awad J, et al. Association of HLA-DR4/Dw4 and DR2/Dw2 with radiologic changes in a prospective study of patients with rheumatoid arthritis. Preferential relationship with HLA-Dw rather than HLA-DR specificities. Arthritis Rheum 1984; 27:20-5.
21. van Zeben D, Hazes JM, Zwinderman AH, et al. Association of HLA-DR4 with a more progressive disease course in patients with rheumatoid arthritis. Results of a followup study. Arthritis Rheum 1991; 34:822-30.
22. Weyand CM, McCarthy TG, Goronzy JJ. Correlation between disease phenotype and genetic heterogeneity in rheumatoid arthritis. J Clin Invest 1995; 95:2120-6.
23. Oilier W, Venables PJ, Mumford PA, et al. HLA antigen associations with extra-articular rheumatoid arthritis. Tissue Antigens 1984; 24:279-91.
24. Klouda PT, Corbin SA, Bidwell JL, et al. Felty's syndrome and HLA-DR antigens. Tissue Antigens 1986; 27:112-13.
25. Lanchbury JS, Jaeger EE, Sansom DM, 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.
26. Suarez-Almazor ME, Shao T, Nelson R, Pazderka F, Russel AS, Maksymowych W. HLA-DRB1 disease-related subtypes in rheumatoid arthritis (RA). Association with susceptibility but not severity (abstract). Arth Rheum 1994; 37(suppl):330.
27. Eberhardt K, Fex E, Johnson U, Wollheim FA. Associations of HLA-DRB and -DQB genes with two and five year outcome in rheumatoid arthritis. Ann Rheum Dis 1996; 55:34-9.
28. Ropes MW, Bennet GA, Cobb S, Jacox R, Jessar RA. Diagnostic criteria for rheumatoid arthritis. Ann Rheum Dis 1959; 18:49-53.
29. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988; 31:315-24.
30. Rose HM, Ragan C, Pearce E, Lipman MO. Proc Soc Exp Biol 1948; 68:1.
31. Young NT, Darke C. Gene frequency and linkage disequilibrium analysis of HLA-DRB1*04 haplotypes in a South Wales population. Eur J Immumogenetics 1994; 21:15-22.
32. Wordsworth BP, Allsopp CE, Young RP, Bell JI. HLA-DR typing using DNA amplification by the polymerase chain reaction and sequential hybridization to sequence-specific oligonucleotide probes, Immunogenetics 1990; 32:413-18.
33. Pile K, Gibson K, Jessop J, Camilleri J, Emberton R, Wordsworth P. HLA-DR4 subtyping by single-strand polymorphism analysis [letter; comment]. Lancet 1993; 342:300-1.
34. Payami H, Joe S, Farid NR, et al. Relative predispositional effects (RPEs) of marker alleles with disease: HLA-DR alleles and Graves disease. Am J Hum Genet 1989; 45:541-6.
35. Lathrop GM. Estimating genotype relative risks. Tissue Antigens 1983; 22:160-6.
36. Larsen A, Dale K, Eek M. Radiographic evaluation of rheumatoid arthritis and related conditions by standard reference film. Acta Radio! Diagn 1977; 18:481-91.
37. Seglias J, Li EK, Cohen MG, Wong RW, Potter PK, So AK. Linkage between rheumatoid arthritis susceptibility and the presence of HLA-DR4 and DR beta allelic third hypervariable region sequences in southern Chinese persons. Arthritis Rheum 1992; 35(2):163-7.
38. Sanchez B, Moreno I, Magarino R, et al. HLA-DRw10 confers the highest susceptibility to rheumatoid arthritis in a Spanish population. Tissue Antigens 1990; 36:174-6.
39. Oilier WE, Stephens C, Awad J, et al. Is rheumatoid arthritis in Indians associated with HLA antigens sharing a DR beta 1 epitope? Ann Rheum Dis 1991; 50(5):295-7.
40. Gao X, Gazit E, Livneh A, Stastny P. Rheumatoid arthritis in Israeli jews: shared sequences in the third hypervariable region of DRB1 alleles are associated with susceptibility. J Rheumatol 1991; 18:801-3.
41. Gough A, Faint J, Salmon M, et al. Genetic typing of patients with inflammatory arthritis at presentation can be used to predict outcome. Arthritis Rheum 1994; 37:1166-70.
42. Thomson W, Pepper L, Payton A, et al. Absence of an association between HLA-DRBI*04 and rheumatoid arthritis in newly diagnosed cases from the community. Ann Rheum Dis 1993; 52:539-41.
43. Sharp JT, Wolfe F, Mitchell DM, Bloch DA. The progression of erosion and joint space narrowing scores in rheumatoid arthritis during the first twenty-five years of disease. Arthritis Rheum 1991; 34:660-8.
44. Nepom GT, Ehrlich H. MHC class II molecules and autoimmunity. Ann Rev Immunol 1991; 9:493-525.
45. Pociot F, Briant L, Jongeneel CV. Association of tumour necrosis factor (TNF) and class II major histocompatibility alleles with the secretion of TNF-α and TNF-γ by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus. Eur J Immunol 1993; 23:224-31.
46. 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.
47. Oilier WE, MacGregor A. Genetic epidemiology of rheumatoid disease. Br Med Bull 1995; 51:267-85.