The presence of glutamic acid at positions 71 or 74 in pocket 4 of the HLA-DRβ1 chain is associated with the clinical course of multiple sclerosis

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 76, Issue 5, 2005, Pages 656-662

  Greer, Judith M ^a   Pender, M P ^a,b  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; HLA DR ANTIGEN; HLA DR1 ANTIGEN; HLA DR4 ANTIGEN; HLA DR6 ANTIGEN; HLA DR9 ANTIGEN; UNCLASSIFIED DRUG;

ALLELE; ANTIBODY COMBINING SITE; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR TYPING; MULTIPLE SCLEROSIS; PHENOTYPE; PRIORITY JOURNAL; RECURRENT DISEASE;

EID: 17644390575     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2004.042168     Document Type: Article

References (52)

1. Thompson AJ, Kermode AG, MacManus, et al. Patterns of disease activity in multiple sclerosis: clinical and magnetic resonance imaging study. BMJ 1990;300:631-4.
2. Cottrell DA, Kremenchutzky M, Rice GPA, et al. The natural history of multiple sclerosis: a geographically based study. 5. The clinical features and natural history of primary progressive multiple sclerosis. Brain 1999;122:625-39.
3. Bashir K, Whitaker JN. Clinical and laboratory features of primary progressive and secondary progressive MS. Neurology 1999;53:765-71.
4. McDonnell GV, Hawkins SA. Primary progressive multiple sclerosis: increasing clarity but many unanswered questions. J Neurol Sci 2002;199:1-15.
5. Masterman T, Ligers A, Olsson T, et al. HLA-DR15 is associated with lower age at onset in multiple sclerosis. Ann Neurol 2000;48:211-19.
6. Ebers GC. Natural history of primary progressive multiple sclerosis. Mult Scler 2004;10(suppl 1):S8-15.
7. McDonnell GV, Cabrera-Gomez J, Calne DB, et al. Clinical presentation of primary progressive multiple sclerosis 10 years after the incidental finding of typical magnetic resonance imaging brain lesions: the subclinical stage of primary progressive multiple sclerosis may last 10 years. Mult Scler 2003;9:204-9.
8. Henderson RD, Bain CJ, Pender MP. The occurrence of autoimmune diseases in patients with multiple sclerosis and their families. J Clin Neurosci 2000;7:434-7.
9. Martin R, McFarland HF, McFarlin DE. Immunological aspects of demyelinating diseases. Annu Rev Immunol 1992;10:153-87.
10. Hellings N, Raus J, Stinissen P. Insights into the immunopathogenesis of multiple sclerosis. Immunol Res 2002;25:27-51.
11. Stewart GJ, Basten A, Guinan J, et al. HLA-Dw2, viral immunity and family studies in multiple sclerosis. J Neurol Sci 1977;32:153-67.
12. Hauser SL, Fleischnick E, Weiner HL, et al. Extended major histocompatibility complex haplotypes in patients with multiple sclerosis. Neurology 1989;39:275-7.
13. Hillert J, Olerup O. Multiple sclerosis is associated with genes within or close to the HLA-DR-DQ subregion on a normal DR15, DQ6, Dw2 haplotype. Neurology 1993;43:163-8.
14. Saruhan Direskeneli G, Esin S, Baykan-Kurt B, et al. HLA-DR and -DQ associations with multiple sclerosis in Turkey. Hum Immunol 1997;55:59-65.
15. Marrosu MG, Murru R, Murru MR, et al. DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. Hum Mol Genet 1998;7:1235-7.
16. Weinshenker BG, Santrach P, Bissonet AS, et al. Major histocompatibility complex class II alleles and the course and outcome of MS. A population-based study. Neurology 1998;51:742-7.
17. Kwon OJ, Karni A, Israel S, et al. HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews. Arch Neurol 1999;56:555-60.
18. Karni A, Kohn Y, Safirman C, et al. Evidence for the genetic role of human leukocyte antigens in low frequency DRB1*1501 multiple sclerosis patients in Israel. Mult Scler 1999;5:410-15.
19. Alvarado-de la Barrera C, Zuniga-Ramos J, Ruiz-Morales JA, et al. HLA class II genotypes in Mexican Mestizos with familial and nonfamilial multiple sclerosis. Neurology 2000;55:1897-900.
20. Olerup O, Hillert J, Fredrikson S, et al. Primarily chronic progressive and relapsing/remitting multiple sclerosis: two immunogenetically distinct disease entities. Proc Natl Acad Sci USA 1989;86:7113-17.
21. McDonnell GV, Mawhinney H, Graham CA, et al. A study of the HLA-DR region in clinical subgroups of multiple sclerosis and its influence on prognosis. J Neurol Sci 1999;165:77-83.
22. Greer JM, Csurhes PA, Cameron KD, et al. Increased immunorectctivity to two overlapping peptides of myelin proteolipid protein in multiple sclerosis. Brain 1997;120:1447-60.
23. Sadatipour BT, Greer JM, Pender MP. Increased circulating antiganglioside antibodies in primary and secondary progressive multiple sclerosis. Ann Neurol 1998;44:980-3.
24. Pender MP, Csurhes PA, Wolfe NP, et al. Increased circulating T cell reactivity to GM3 and GQ1b gangliosides in primary progressive multiple sclerosis. J Clin Neurosci 2003;10:63-6.
25. Lefranc D, Almeras L, Dubucquoi S, et al. Distortion of the self-reactive IgG antibody repertoire in multiple sclerosis as a new diagnostic tool. J Immunol 2004;172:669-78.
26. Stern U, Brown JH, Jardetzky TS, et al. Crystal structure of the human class II MHC protein HLA-DR1 complexed with an influenza virus peptide. Nature 1994;368:215-21.
27. Fu XT, Bono CP, Woulfe SL, et al. Pocket 4 of the HLA-DR(α, β1*0401) molecule is a major determinant of T cell recognition of peptide. J Exp Med 1995;181:914-26.
28. Hennecke J, Wiley DC. Structure of a complex of the human α/β T cell receptor (TCR) HA1.7, influenza hemagglutinin peptide, and major histocompatibility complex class II molecule, HLA-DR4 (DRA*0101 and DRB1*0401): Insight into TCR cross-restriction and alloreactivity. J Exp Med 2002;195:571-81.
29. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-Pdb Viewer: an environment for comparative protein modeling. Electrophoresis 1997;18:2714-23.
30. Poser CM, Paty DW, Scheinberg L, et al. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983;12:227-31.
31. McDonald WI, Compston A, Edan G, et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the Diagnosis of Multiple Sclerosis. Ann Neurol 2001;50:121-7.
32. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215-18.
33. Schreuder GMT, Hurley CK, Marsh SGE, et al. The HLA Dictionary 2001: a summary of HLA-A, -B, -C, -DRB1/3/4/5, -DQB1 alleles and their association with serologically defined HLA-A, -B, -C, -DR and -DQ antigens. Tissue Antigens 2001;58:109-40.
34. Zipp F, Windemuth C, Pankow H, et al. Multiple sclerosis associated amino acids of polymorphic regions relevant for the HLA antigen binding are confined to HLA-DR2. Hum Immunol 2000;61:1021-30.
35. Stenström G, Berger B, Borg H, et al. HLA-DQ genotypes in classic type 1 diabetes and in latent autoimmune diabetes of the adult. Am J Epidemiol 2002;156:787-96.
36. Caballero A, Alves-Leon S, Papais-Alvarenga R, et al. DQB1*0602 confers genetic susceptibility to multiple sclerosis in Afro-Brazilians. Tissue Antigens 1999;54:524-6.
37. Olerup O, Hillert J. HLA class II-associated genetic susceptibility for multiple sclerosis: a critical evaluation. Tissue Antigens 1991;38:1-15.
38. Hillert J, Grönning M, Nyland H, et al. An immunogenetic heterogeneity in multiple sclerosis. J Neurol Neurosurg Psychiatry 1992;55:887-90.
39. Celius EG, Harbo HF, Egeland T, et al. Sex and age at diagnosis are correlated with the HLA-DR2,DQ6 haplotype in multiple sclerosis. J Neurol Sci 2000;178:132-5.
40. Myhre AG, Undlien DE, Løvås K, et al. Autoimmune adrenocorticol failure in Norway: autoantibodies and human leukocyte antigen class II associations related to clinical features. J Clin Endocrinol Metab 2002;87:618-23.
41. Knip M, Kukko M, Kulmala P, et al. Humoral beta-cell autoimmunity in relation to HLA-defined disease susceptibility in preclinical and clinical type 1 diabetes. Am J Med Genet 2002;115:48-54.
42. Wassmuth R, Wagner U. Prognostic use of human leukocyte antigen genotyping for rheumatoid arthritis susceptibility, disease course, and clinical stratification. Rheum Dis Clin North Am 2002;28:17-37.
43. Bielekova B, Goodwin B, Richert N, et al. Encephalitogenic potential of the myelin basic protein peptide (amino acids 83-99) in multiple sclerosis: results of a phase II clinical trial with an altered peptide ligand. Nat Med 2000;6:1167-75.
44. Smith KJ, Pyrdol J, Gauthier L, et al. Crystal structure of HLA-DR2 (DRA*0101, DRB1*1501) complexed with a peptide from human myelin basic protein. J Exp Med 1998;188:1511-20.
45. Djoulah S, Busson M, Sasazuki T, et al. A new predictive model for insulin-dependent diabetes mellitus susceptibility based on combinations of molecular HLA-DRB1 and HLA-DQB1 pockets. Tissue Antigens 1999;54:341-8.
46. Haas J-P, Nevinny-Stickel C, Schoenwald U, et al. Susceptible and protective major histocompatibility complex class II alleles in early onset pauciarticular juvenile chronic arthritis. Hum Immunol 1994;41:225-33.
47. Wucherpfennig KW, Yu B, Bhol K, et al. Structural basis for major histocompatibility complex (MHC)-linked susceptibility to autoimmunity: charged residues of a single MHC binding pocket confer selective presentation of self-peptides in pemphigus vulgaris. Proc Natl Acad Sci USA 1995;92:11935-9.
48. Wang FW, Yu ZQ, Xy JJ, et al. HLA and hypertrophic Hashimato's thyroiditis in Shanghai Chinese. Tissue Antigens 1988;32:235-6.
49. Hammer J, Gallazzi F, Bono E, et al. Peptide binding specificity of HLA-DR4 molecules: Correlation with rheumatoid arthritis association. J Exp Med 1995;181:1847-55.
50. Zerva L, Cizman B, Mehra NK, et al. Arginine at positions 13 or 70-71 in pocket 4 of HLA-DRB1 alleles is associated with susceptibility to tuberculoid leprosy. J Exp Med 1996;183:829-36.
51. Richeldi L, Sorrentino R, Saltini C. HLA-DPB1 glutamate 69: a genetic marker of Beryllium disease. Science 1993;262:242-4.
52. Price P, Witt C, Allcock R, et al. The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases. Immunol Rev 1999;167:257-74.