The DRB1 Val86/Val86 genotype associates with multiple sclerosis in Australian patients

Human Immunology

Volumn 60, Issue 8, 1999, Pages 715-722

  Teutsch, Suzy M ^a,b   Bennetts, Bruce H ^c   Buhler, Marc M ^a,b   Heard, Robert N S ^a,b   Stewart, Graeme J ^a,b  

^a WESTMEAD HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

Antigen presentation; Critical residues; HLA; Multiple sclerosis; PCP

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; HLA DR ANTIGEN; HLA-DRB1 ANTIGEN; VALINE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUSTRALIA; CONTROLLED STUDY; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; ANTIGEN PRESENTATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; ANTIGEN PRESENTATION; AUSTRALIA; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HLA-DR ANTIGENS; HUMANS; MULTIPLE SCLEROSIS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; VALINE;

EID: 0032587476     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0198-8859(99)00033-6     Document Type: Article

References (37)

1. Ebers G.C., Sadovnick A.D., Risch N.J. A genetic basis for familial aggregation in multiple sclerosis. Nature. 377:1995;150.
2. Sawcer S., Jones H., Feakes R., Gray J., Smaldon N., Chataway J., Robertson N., Clayton D., Goodfellow P., Compston A. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nature Genet. 13:1996;464.
3. Haines J., Pericak-Vance M., Seboun E., Hauser S. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatibility complex. Nature Genet. 13:1996;469.
4. Ebers G.C., Kukay K., Bulman D.E., Sadovnick A.D., Rice G., Anderson C., Armstrong H., Cousin K., Bell R., Hader W., Paty D., Hashimoto S., Oger J., Duquette P., Warren S., Gray T., O'Connor P., Nath A., Auty A., Metz L., Francis G., Paulseth J., Murray T., Pryse-Phillips W., Nelson R., Freedman M., Brunet D., Bouchard J.-P., Hinds D., Risch N. A full genome search in multiple sclerosis. Nature Genet. 13:1996;472.
5. Haines J.L., Terwedow H.A., Burgess K., Pericak-Vance M.A., Rimmler J.B., Martin E.R., Oksenberg J.R., Lincoln R., Zhang D.Y., Banatao D.R., Gatto N., Goodkin D.E., Hauser S.L. Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. Hum Mol Genet. 7:1998;1229.
6. Stewart G.J., Teutsch S.M., Castle M., Heard R.N.S., Bennetts B.H. HLA-DR, -DQA1 and -DQB1 associations in Australian multiple sclerosis patients. Eur J Immunogenet. 24:1997;81.
7. Spurkland A., Rønningen K.S., Vandvik B., Thorsby E., Vartdal F. HLA DQA1 and HLA DQB1 genes may jointly determine susceptibility to develop multiple sclerosis. Hum Immunol. 30:1991;69.
8. Wucherpfennig K.W., Sette A., Southwood S., Oseroff C., Matsui M., Strominger J.L., Hafler D.A. Structural requirements for binding of an immunodominant myelin basic protein peptide to DR2 isotypes and for its recognition by human T cell clones. J Exp Med. 179:1994;279.
9. Marshall K.W., Liu A.F., Canales J., Perahia B., Jorgensen B., Gantzos R.D., Aguilar B., Devaux B., Rothbard J.B. Role of the polymorphic residues in HLA-DR molecules in allele-specific binding of peptide ligands. J Immunol. 152:1994;4946.
10. Verreck F.A.W., Termijtelen A., Koning F. HLA-DRβ chain residue 86 controls DRαβ dimer stability. Eur J Immunol. 23:1993;1346.
11. Peponnet C., Schaeffer V., Lepage V., Chatelain F., Rodde I., Alsayed J., Boucher P., Hermans P., Monplaisar/Cassius de Linval N., Charron D. Comparison of two HLA-DRB high resolution microtiter plate reverse hybridization typing methods advantage of a codon-86 valine or glycine PCR segregation . Tissue Antigens. 45:1995;129.
12. Marsh S.G.E., Bodmer J.G. HLA class II nucleotide sequences, 1992. Tissue Antigens. 40:1992;229.
13. Allen M., Sandberg-Wollheim M., Sjögren K., Erlich H.A., Petterson U., Gyllensten U. Association of susceptibility to multiple sclerosis in Sweden with HLA class II DRB1 and DQA1 alleles. Hum Immunol. 39:1994;41.
14. Saruhan-Direskeneli G., Esin S., Baykan-Kurt B., Örnek I., Vaughan R., Eraksoy M. HLA-DR and -DQ associations with multiple sclerosis in Turkey. Hum Immunol. 55:1997;59.
15. Poser C.M., Sheinberg L., McDonald W.I., Davis F.A., Ebers G.C., Johnson K.P., Sibley W.A., Silberg D.H., Tourtelotte W.W. New diagnostic criteria for multiple sclerosis Guidelines for research protocols . Ann Neurol. 13:1983;227.
16. Kurtzke J.F. Rating neurologic impairment in multiple sclerosis an expanded disability status scale (EDSS) . Neurology. 33:1983;1444.
17. Olerup O., Zetterquist H. HLA-DR typing by PCR amplification with sequence-specific primers (PCR) in 2 hours an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation . Tissue Antigens. 39:1992;225.
18. Scharf S.J., Long C.M., Erlich H.A. Sequence analysis of the HLA-DRβ and HLA-DQβ loci from three pemphigus vulgaris patients. Hum Immunol. 22:1988;61.
19. Scharf S.J., Griffith R.L., Erlich H.A. Rapid typing of DNA sequence polymorphism at the HLA-DRB1 locus using the polymerase chain reaction and nonradioactive oligonucleotide probes. Hum Immunol. 30:1991;190.
20. Teutsch S.M., Bennetts B.H., Castle M., Hibbins M., Heard R.N.S., Stewart G.J. HLA-DQA1 and -DQB1 genotyping by PCR-RFLP, heteroduplex and homoduplex analysis. Eur J Immunogenet. 23:1996;107.
21. Tiwari J.L., Terasaki P.I. The data and statistical analysis. Tiwari J.L., Terasaki P.I. HLA and Disease Associations. 1985;Springer-Verlag, New York.
22. Stewart G.J. Multiple sclerosis, multiple genes. Med J Aust. 166:1997;573.
23. Liblau R., van Endert P.M., Sandberg-Wollheim M., Patel S.D., Lopez M.T., Land S., Fugger L., McDevitt H.O. Antigen processing gene polymorphisms in HLA-DR2 multiple sclerosis. Neurology. 43:1993;1192.
24. Bennetts B.H., Teutsch S.M., Heard R.N.S., Dunckley H., Stewart G.J. TAP2 polymorphisms in Australian multiple sclerosis patients. J Neuroimmunol. 59:1995;113.
25. Vogt A.B., Kropshofer H., Kalbacher H., Kalbus M., Rammensee H.-G., Coligan J.E., Martin R. Ligand motifs of HLA-DRB5*0101 and DRB1*1501 molecules delineated from self-peptides. J Immunol. 153:1994;1665.
26. Hughes A.L., Yeager M., Carrington M. Peptide binding function and the paradox of HLA disease associations. Immunol Cell Biol. 74:1996;444.
27. Beall S., Concannon P., Charmley P., et al. The germline repertoire of T cell receptor B-chain genes in patients with chronic progressive multiple sclerosis. J Neuroimmunol. 21:1989;59.
28. Seboun E., Robinson M.A., Doolittle T.H., Ciulla T.A., Kindt T.J., Hauser S.L. A susceptibility locus for multiple sclerosis is linked to the T cell receptor beta chain complex. Cell. 57:1989;1095.
29. Martinez-Naves E., Victoria-Gutierrez M., Uria D.F., Lopez-Larrea C. The germline repertoire of T cell B chain genes in multiple sclerosis patients from Spain. J Neuroimmunol. 47:1993;9.
30. Hockertz M.K., Paty D.W., Beall S.S. Susceptibility to relapsing-progressive multiple sclerosis is associated with the inheritance of genes linked to the variable region of the TcR beta locus use of affected family-based controls . Am J Hum Genet. 62:1998;373.
31. Kellar-Wood H.F., Wood N.W., Holmans P., Clayton D., Robertson N., Compston D.A.S. Multiple sclerosis and the HLA-D region linkage and association studies . J Neuroimmunol. 58:1995;183.
32. Spielman R.S., McGinnis R.E., Ewens W.J. Transmission test for linkage disequilibrium the insulin gene region and insulin-dependent diabetes mellitis (IDDM) . Am J Hum Genet. 52:1993;506.
33. Zamvil S.S., Mitchell D.J., Moore A.C., Kitamura K., Steinman L., Rothbard J.B. T-cell epitope of the autoantigen myelin basic protein that induces encephalomyelitis. Nature. 324:1986;258.
34. Pender M.P. Genetically determined failure of activation-induced apoptosis of autoreactive T cells as a cause of multiple sclerosis. Lancet. 351:1998;978.
35. Kerlero de Rosbo N., Milo R., Lees M.B., Burger D., Bernard C.C.A., Ben-Nun A. Reactivity to myelin antigens in multiple sclerosis. J Clin Invest. 92:1993;2602.
36. Zhang Y., Burger D., Saruhan G., Jeannet M., Steck A.J. The T-lymphocyte response against myelin-associated glycoprotein and myelin basic protein in patients with multiple sclerosis. Neurology. 43:1993;403.
37. Bennetts B.H., Teutsch S.M., Buhler M.M., Heard R.N.S., Stewart G.J. The CCR5 deletion mutation fails to protect against multiple sclerosis. Hum Immunol. 58:1997;52.