Identification of multiple sclerosis-associated genes

Mayo Clinic Proceedings

Volumn 72, Issue 10, 1997, Pages 965-976

  Hogancamp, William E ^a   Rodriguez, Moses ^b   Weinshenker, Brian G ^a  

^a Department of Neurology ^*  (United States)

^b MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT; HLA ANTIGEN; IMMUNOGLOBULIN; MYELIN BASIC PROTEIN; T LYMPHOCYTE RECEPTOR;

CHROMOSOME 6; CONFERENCE PAPER; GENE ASSIGNMENT; GENE ISOLATION; GENE LOCUS; GENE MUTATION; HUMAN; MITOCHONDRION; MULTIPLE SCLEROSIS;

EID: 0030776911     PISSN: 00256196     EISSN: None     Source Type: Journal    
DOI: 10.4065/72.10.965     Document Type: Conference Paper

References (151)

1. Hogancamp WE, Rodriguez M, Weinshenker BG. The epidemiology of multiple sclerosis. Mayo Clin Proc 1997;72:871-878
2. Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N, Chataway J, et al. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 1996; 13:464-468
3. Multiple Sclerosis Genetics Group. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatibility complex. Nat Genet 1996; 13:469-471
4. Ebers GC, Kukay K, Bulman DE, Sadovnick AD, Rice G, Anderson C, et al. A full genome search in multiple sclerosis. Nat Genet 1996; 13:472-476
5. Todd JA, Farrall M. Panning for gold: genome-wide scanning for linkage in type 1 diabetes. Hum Mol Genet 1996;5:1443-1448
6. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-depen-dent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506516
7. Haegert DG, Marrosu MG. Genetic susceptibility to multiple sclerosis. Ann Neurol 1994;36(Suppl 2):S204-S210
8. Hillert J. Human leukocyte antigen studies in multiple sclerosis. Ann Neurol 1994;36(Suppl 1 ):S 15-S17
9. Jersild C, Fog T, Hansen GS, Thomsen M, Svejgaard A, Dupont B. Histocompatibility determinants in multiple sclerosis, with special reference to clinical course. Lancet 1973;2:1221-1225
10. Marrosu MG, Muntoni F, Murru MR, Spinicci G, Pischedda MP, Goddi F, et al. Sardinian multiple sclerosis is associated with HLADR4: a sérologie and molecular analysis. Neurology 1988; 38:1749-1753
11. Kurdi A, Ayesh I, Abdallat A, Maayta U. Different B lymphocyte alloantigens associated with multiple sclerosis in Arabs and North Europeans. Lancet 1977;!:! 123-1125
12. Naito S, Kuroiwa Y, Itoyama T, Tsubaki T, Horikawa A, Sasazuki T, et al. HLA and Japanese MS. Tissue Antigens 1978; 12:1924
13. Gorodezky C, Najera R, Rangel BE, Castro LE, Flores J, Velazquez G, et al. Immunogenetic profile of multiple sclerosis in Mexicans. Humlmmunol 1986; 16:364-374
14. Marrosu MG, Muntoni F, Murru MR, Costa G, Pischedda MP, Pirastu M, et al. HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 0201 and 0302 alleles. Neurology 1992;42:883-886
15. Kira J, Kanai T, Nishimura Y, Yamasaki K, Matsushita S, Kawano Y. et al. Western versus Asian types of multiple sclerosis: immunogenetically and clinically distinct disorders. Ann Neurol 1996;40:569-574
16. Haegert DG, Muntoni F, Murru MR, Costa G, Francis GS, Marrosu MG. HLA-DQA1 and-DQBl associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups. Neurology 1993;43:548-552
17. Allen M, Sandberg-Wollheim M, Sjogren K, Erlich HA, Petterson U, Gyllensten U. Association of susceptibility to multiple sclerosis in Sweden with HLA class II DRB1 and DQB1 alleles. Hum Immunol 1994;39:41-48
18. Ebers GC, Paty DW, Stiller CR, Nelson RF, Seland TP, Larsen B. HLA-typing in multiple sclerosis sibling pairs. Lancet 1982;2:8890
19. Francis DA, Batchelor JR, McDonald WI, Dodi IA, Hing SN, Hern JE, et al. HLA genetic determinants in familial MS: a study from the Grampian region of Scotland. Tissue Antigens 1987;29:7-12
20. Hillert J, Kail T, Vrethem M, Fredrikson S, Ohlson M, Olerup O. The HLA-DRw2 haplotype segregates closely with multiple sclerosis in multiplex families. J Neuroimmunol 1994;50:95-100
21. Olerup O, Hillert J, Fredrikson S, Olsson T, Kam-Hansen S, Moller E, et al. Primarily chronic progressive and relapsing/remitting multiple sclerosis: two immunogenetically distinct disease entities. Proc Natl Acad Sei USAI 989;86:7113-7117
22. Olerup O, Hillert J. HLA class II-associated genetic susceptibility in multiple sclerosis: a critical evaluation. Tissue Antigens 1991:38:1-15
23. Odum N, Hyldig-Nielsen JJ, Morling N, Sandberg-Wollheim M, Platz P, Svejgaard A. HLA-DP antigens are involved in the susceptibility to multiple sclerosis. Tissue Antigens 1988;31:235-237
24. Odum N, Saida T, Ohta M, Svejgaard A. HLA-DP antigens and HTLV-1 antibody status among Japanese with multiple sclerosis: evidence for an increased frequency of HLA-DPw4. J Immunogenet 1989:16:467-473
25. Begovich AB, Helmuth RC. Oksenberg JR, Sakai K, Tabira T, Sasazuki T, et al. HLA-DP beta and susceptibility to multiple sclerosis: an analysis of Caucasoid and Japanese patient populations. Humlmmunol 1990;28:365-372
26. Fugger L. Ryder LP, Morling N, 0dum N, Friis J, Pedersen FK, et al. DNA typing for HLA-DPB1 02 and -DPB1 04 in multiple sclerosis and juvenile rheumatoid arthritis. Immunogenetics 1990:32:150-156
27. Olerup O, Hillert J, Fredrikson S. The HLA-D region-associated MS-susceptibility genes may be located telomeric to the HLA-DP subregion. Tissue Antigens 1990;36:37-39
28. Hillert J, Olerup O. Multiple sclerosis is associated with genes within or close to the HLA-DR-DQ subregion on a normal DR15,DQ6,Dw2haplotype. Neurology 1993;43:163-168
29. Roth MP, Nogueira L, Coppin H, Clanet M, Clayton J, CambonThomsen A. Tumor necrosis factor polymorphism in multiple sclerosis: no additional association independent of HLA. J Neuroimmunol 1994;51:93-99
30. Francis DA, Thompson AJ, Brookes P, Davey N, Lechler RI, McDonald WI, et al. Multiple sclerosis and HLA: is the susceptibility gene really HLA-DR or-DQ? Humlmmunol 1991;32:119124
31. Vartdal F, Sollid LM, Vandvik B, Markussen G, Thorsby E. Patients with multiple sclerosis carry DQB1 genes which encode shared polymorphic amino acid sequences. Hum Immunol 1989;25:103-110
32. Spurkland A, Ronningen KS, Vandvik B, Thorsby E, Vartdal F. HLA-DQA1 and HLA-DQB1 genes may jointly determine susceptibility to develop multiple sclerosis. Humlmmunol 1991:30:6975
33. Haegert DG, Francis GS. Contribution of a single DQ beta chain residue to multiple sclerosis in French Canadians. Hum Immunol 1992:34:85-90
34. Rodriguez M, Patick AK, Pease LR, David CS. Role of T cell receptor Vβ genes in Theiler's virus-induced demyelination of mice. J Immunol 1992; 148:921-927
35. Melvold RW, Jokinen DM, Knobler RL, Lipton HL. Variations in genetic control of susceptibility to Theiler's murine encephalomyelitis virus (TMEV)-induced demyelinating disease. I. Differences between susceptible SJL/J and resistant BALB/c strains map near the T cell beta-chain constant gene on chromosome 6. J Immunol 1987:138:1429-1433
36. Beall SS, Concannon P, Charmley P, McFarland HF, Gatti RA, Hood LE, et al. The germline repertoire of T cell receptor β-chain genes in patients with chronic progressive multiple sclerosis. J Neuroimmunol 1989:21:59-66
37. Beall SS, Biddison WE, McFarlin DE, McFarland HF, Hood LE. Susceptibility for multiple sclerosis is determined, in part, by inheritance of a 175-kb region of the TcR Vβ chain locus and HLA class II genes. J Neuroimmunol 1993;45:53-60
38. Wei S, Charmley P, Birchfield RI, Concannon P. Human T-cell receptor Vβ gene polymorphism and multiple sclerosis. Am J Hum Genet 1995:56:963-969
39. Charmley P, Beall SS, Concannon P, Hood L, Gatti RA. Further localization of a multiple sclerosis susceptibility gene on chromosome 7q using a new T cell receptor beta-chain DNA polymorphism. J Neuroimmunol I991;32:231-240
40. Martinez-Naves E, Victoria-Gutiérrez M, Una DF, Löpez-Larrea C. The germline repertoire of T cell receptor β-chain genes in multiple sclerosis patients from Spain. J Neuroimmunol 1993; 47:9-13
41. Fugger L, Sandberg-Wollheim M, Morling N, Ryder LP, Svejgaard A. The germline repertoire of T-cell receptor βchain genes in patients with relapsing/remitting multiple sclerosis or optic neuritis. Immunogenetics 1990:31:278-280
42. Hillert J, Leng C, Olerup O. No association with germline T cell receptor β-chain gene alleles or haplotypes in Swedish patients with multiple sclerosis. J Neuroimmunol 1991 ;32:141 -147
43. Vandevyver C, Buyse I, Philippaerts L, Ghabanbasani Z, Medaer R, Carton H, et al. HLA and T-cell receptor polymorphisms in Belgian multiple sclerosis patients: no evidence for disease association with the T-cell receptor. J Neuroimmunol 1994;52:2532
44. Seboun E, Robinson MA, Doolittle TH, Ciulla TA, Kindt TJ, Hauser SL. A susceptibility locus for multiple sclerosis is linked to the T cell receptor βchain complex. Cell 1989;57:10951100
45. Wood NW, Sawcer SJ, Kellar-Wood HF, Holmans P, Clayton D, Robertson N, et al. The T-cell receptor βlocus and susceptibility to multiple sclerosis. Neurology 1995;45:1859-1863
46. Lynch SG, Rose JW, Petajan JH, Stauffer D, Kamerath C, Leppert M. Discordance of T-cell receptor β-chain genes in familial multiple sclerosis. AnnNeurol 1991;30:402-410
47. Martel! M, Marcadet A, Strominger J, Dausset J, Cohen D. Alpha genes of the T cell receptor: a possible implication in genetic susceptibility to multiple sclerosis. C R Acad Sei III 1987; 304:105-110
48. Oksenberg JR, Sherritt M, Begovich AB, Erlich HA, Bernard CC, Cavalli-Sforza LL, et al. T-cell receptor V alpha and C alpha alleles associated with multiple sclerosis and myasthenia gravis. Proc Natl Acad Sei U S A 1989;86:988-992
49. Hillert J, Leng C, Olerup O. T-cell receptor alpha chain germline gene polymorphisms in multiple sclerosis. Neurology 1992;42:8084
50. Eoli M, Wood NW, Kellar-Wood HF, Holmans P, Clayton D, Compston DA. No linkage between multiple sclerosis and the T cell receptor alpha chain locus. J Neurol Sei 1994; 124:32-37
51. Hashimoto LL, Mak TW, Ebers GC. T cell receptor alpha chain polymorphisms in multiple sclerosis. J Neuroimmunol 1992; 40:41-48
52. Lynch SG, Rose J W, Petajan JH, Leppert M. Discordance of the Tcell receptor alpha-chain gene in familial multiple sclerosis. Neurology 1992;42:839-844
53. Burns FR, Li XB, Shen N, Offner H, Chou YK, Vandenbark AA, et al. Both rat and mouse T cell receptors specific for the encephalitogenic determinant of myelin basic protein use similar V alpha and V beta chain genes even though the major histocompatibility complex and encephalitogenic determinants being recognized are different. JExpMed 1989; 169:27-39
54. Acha-Orbea H, Mitchell DJ, Timmermann L, Wraith DC, Tausch GS, Waldor MK, et al. Limited heterogeneity of T cell receptors from lymphocytes mediating autoimmune encephalomyelitis allows specific immune intervention. Cell 1988;54:263-273
55. Ota K, Matsui M, Milford EL, Mackin GA, Weiner HL, Hafler DA. T-cell recognition of an immunodominant myelin basic protein epitope in multiple sclerosis. Nature 1990;346:183-187
56. Richer! JR, Robinson ED, Deibler GE, Martenson RE, Dragovic LJ, Kies MW. Evidence for multiple human T cell recognition sites on myelin basic protein. J Neuroimmunol 1989;23:55-66
57. Joshi N, Usuku K, Hauser SL. The T-cell response to myelin basic protein in familial multiple sclerosis: diversity of fine specificity, restricting elements, and T-cell receptor usage. Ann Neurol 1993;34:385-393
58. Wucherpfennig KW, Ota K, Endo N, Seidman JG, Rosenzweig A, Weiner HL, et al. Shared human T cell receptor V usage to immunodominant regions of myelin basic protein. Science 1990; 248:1016-1019
59. Kotzin BL, Karuturi S, Chou YK, Lafferty J, Forrester JM, Better M, et al. Preferential T-cell receptor β-chain variable gene use in myelin basic protein-reactive T-cell clones from patients with multiple sclerosis. Proc Natl Acad Sei U S A 1991 ;88:91619165
60. Ben-Nun A, Liblau RS, Cohen L, Lehmann D, Tournier-Lasserve E, Rosenzweig A, et al. Restricted T-cell receptor V gene usage by myelin basic protein-specific T-cell clones in multiple sclerosis: predominant genes vary in individuals. Proc Natl Acad Sei USA 1991;88:2466-2470
61. Utz U, Biddison WE, McFarland HF, McFarlin DE, Flerlage M, Martin R. Skewed T-cell receptor repertoire in genetically identical twins correlates with multiple sclerosis. Nature 1993;364:243247
62. Richert JR, Robinson ED, Johnson AH, Bergman ÇA, Dragovic LJ, Reinsmoen NL, et al. Heterogeneity of the T-cell receptor βgene rearrangements generated in myelin basic protein-specific T-cell clones isolated from a patient with multiple sclerosis. Ann Neurol 1991:29:299-306
63. Martin R, Utz U, Coligan JE, Richert JR, Flerlage M, Robinson E, et al. Diversity in fine specificity and T cell receptor usage of the human CD4+ cytotoxic T cell response specific for the immunodominant myelin basic protein peptide 87-106. J Immunol 1992;148:1359-1366
64. Giegerich G, Pette M, Meinl E, Epplen JT, Wekerle H, Hinkkanen A. Diversity of T cell receptor a and βchain genes expressed by human T cells specific for similar myelin basic protein peptide/ major histocompatibility complexes [published erratum appears in Eur J Immunol 1992;22:1331]. Eur J Immunol 1992;22:753758
65. Söderström M, Link H, Fredrikson S, Sun J-B. Optic neuritis and multiple sclerosis: the T cell repertoires to myelin proteins and MBP peptides change with time. Acta Neurol Scand 1994;90:1018
66. Söderström M, Link H, Xu Z, Fredriksson S. Optic neuritis and multiple sclerosis: anti-MBP and anti-MBP peptide antibodysecreting cells are accumulated in CSF. Neurology 1993;43:12151222
67. Allegretta M, Nicklas JA, Sriram S, Albertini RJ. T cells responsive to myelin basic protein in patients with multiple sclerosis. Science 1990;247:718-721
68. Lehmann PV, Forsthuber T, Miller A, Sercarz EE. Spreading of Tcell autoimmunity to cryptic determinants of an autoantigen. Nature 1992;358:155-157
69. Steinman L, Miller A, Bernard CCA, Oksenberg JR. The epigenetics of multiple sclerosis: clues to etiology and a rationale for immune therapy. Annu Rev Neurosci 1994; 17:247-265
70. Oksenberg JR, Stuart S, Begovich AB, Bell RB, Erlich HA, Steinman L, et al. Limited heterogeneity of rearranged T-cell receptor Va transcripts in brains of multiple sclerosis patients [published erratum appears in Nature 1991 ;353:94]. Nature 1990; 345:344-346
71. Oksenberg JR, Panzara MA, Begovich AB, Mitchell D, Erlich HA, Murray RS, et al. Selection for T-cell receptor Vβ-Dβ-Jβ gene rearrangements with specificity for a myelin basic protein peptide in brain lesions of multiple sclerosis. Nature 1993;362:68-70
72. Birnbaum G, Van Ness B. Quantitation of T-cell receptor Vβ chain expression on lymphocytes from blood, brain, and spinal fluid in patients with multiple sclerosis and other neurological diseases. Ann Neurol 1992;32:24-30
73. Wucherpfennig KW, Newcombe J, Li H, Keddy C, Cuzner ML, Hafler DA. T cell receptor Va-V repertoire and cytokine gene expression in active multiple sclerosis lesions. J Exp Med 1992; 175:993-1002
74. Martin R, Howell MD, Jaraquemada D, Flerlage M, Richert J, Brostoff S, et al. A myelin basic protein peptide is recognized by cytotoxic T cells in the context of four HLA-DR types associated with multiple sclerosis. J Exp Med 1991; 173:19-24
75. Allegretta M, Albertini RJ, Howell MD, Smith LR, Martin R, McFarland HF, et al. Homologies between T cell receptor junctional sequences unique to multiple sclerosis and T cells mediating experimental allergic encephalomyelitis. J Clin Invest 1994; 94:105-109
76. Vandenbark AA, Hashim G, Offner H. Immunization with a synthetic T-cell receptor V-region peptide protects against experimental autoimmune encephalomyelitis. Nature 1989;341:541544
77. Vandenbark AA, Chou YK, Whitham R, Mass M, Buenafe A, Liefeld D, et al. Treatment of multiple sclerosis with T-cell receptor peptides: results of a double-blind pilot trial. Nat Med 1996;2:1109-1115
78. Richert JR, Robinson ED, Camphausen K, Martin R, Voskuhl RR, Faerber MA, et al. Diversity of T-cell receptor VQ, V, and CDR3 expression by myelin basic protein-specific human T-cell clones. Neurology 1995 ;45:1919-1922
79. Utz U, Brooks JA, McFarland HF, Martin R, Biddison WE. Heterogeneity of T-cell receptor chain complementarity-determining region 3 in myelin basic protein-specific T cells increases with
80. severity of multiple sclerosis. Proc Natl Acad Sei USA 1994:91:5567-5571
81. Olsson T, Baig S, Hojeberg B, Link H. Antimyelin basic protein and antimyelin antibody-producing cells in multiple sclerosis. Ann Neurol 1990;27:132-136
82. Boylan KB, Takahashi N, Paty DW, Sadovnick AD, Diamond M, Hood LE, et al. DNA length polymorphism 5' to the myelin basic protein gene is associated with multiple sclerosis. Ann Neurol 1990;27:291-297
83. Tienari PJ, Wikstrom J, Sajantila A, Palo J, Peltonen L. Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet 1992;340:987-991
84. Graham CA, Kirk CW, Nevin NC, Droogan AG, Hawkins SA, McMillan SA, et al. Lack of association between myelin basic protein gene microsatellite and multiple sclerosis [letter]. Lancet 1993;341:1596
85. Rose J, Gerken S, Lynch S, Pisani P, Varvil T, Otterud B, et al. Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene. Lancet 1993:341:1179-1181
86. Vandevyver C, Stinissen P, Cassiman JJ, Raus J. Myelin basic protein gene polymorphism is not associated with chronic progressive multiple sclerosis. J Neuroimmunol 1994;52:97-99
87. Chou CH, Chou FC, Kowalski TJ, Shapira R, Kibler RF. Identity of myelin basic protein from multiple sclerosis and human control brains: a discovery of a genetic variant. J Neurochem 1978; 30:745-750
88. Wood DD, Bilbao JM, O'Connors P, Moscarello MA. Acute multiple sclerosis (Marburg type) is associated with developmentally immature myelin basic protein. Ann Neurol 1996;40:18-24
89. Warren KG, Catz I. Diagnostic value of cerebrospinal fluid antimyelin basic protein in patients with multiple sclerosis. Ann Neurol 1986;20:20-25.
90. Palmer DL, Minard BJ, Cawley LP. IgG subgroups in cerebrospinal fluid in multiple sclerosis [letter]. NEnglJMed 1976;294:447448
91. Pandey JP, Goust JM, Salier JP, Fudenberg HH. Immunoglobulin G heavy chain (Gm) allotypes in multiple sclerosis. J Clin Invest 1981;67:1797-1800
92. Propert DN, Bernard CC, Simons MJ. Gm allotypes and multiple sclerosis. J Immunogenet 1982:9:359-361
93. Sandberg-Wollheim M, Baird LG, Schanfield MS, Knoppers MH, Youker K, Tachovsky TG. Association of CSF IgG concentration and immunoglobulin allotype in multiple sclerosis and optic neuritis. Clin Immunol Immunopathol 1984;31:212-221
94. Blanc M, Clanet M, Berr C, Dugoujon JM, Ruydavet B, Ducos SJ, et al. Immunoglobulin allotypes and susceptibility to multiple sclerosis: an epidemiological and genetic study in the HautesPyrénées county of France. J Neurol Sei 1986;75:l-5
95. Sesboue R, Daveau M, Degos JD, Martin-Mondiere C, Goust JM, Schuller E, et al. IgG (Gm) allotypes and multiple sclerosis in a French population: phenotype distribution and quantitative abnormalities in CSF with respect to sex, disease severity, and presence of intrathecal antibodies. Clin Immunol Immunopathol 1985; 37:143-153
96. Haile RW, Goldstein A, Field L, Marazita ML. A linkage analysis of the Gm locus and multiple sclerosis. Genet Epidemiol 1985:2:29-34
97. Francis DA, Brazier DM, Batchelor JR, McDonald WI, Downie AW, Hern JEC. Gm allotypes in multiple sclerosis: influence susceptibility in HLA-DQwl-positive patients from the NorthEast of Scotland. Clin Immunol Immunopathol 1986;41:409416
98. Gaiser CN, Johnson MJ, de Lange G, Rassenti L, Cavalli-Sforza LL, Steinman L. Susceptibility to multiple sclerosis associated with an immunoglobulin gamma 3 restriction fragment length polymorphism. J Clin Invest 1987;79:309-313
99. Walter MA, Gibson WT, Ebers GC, Cox DW. Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region. J Clin Invest 1991 ;87:1266-1273
100. Hillert J. Immunoglobulin gamma constant gene region polymorphisms in multiple sclerosis. J Neuroimmunol 1993;43:9-14
101. Yu JS, Pandey JP, Massacesi L, Lincoln R, Usuku K, Seboun E, et al. Segregation of immunoglobulin heavy chain constant region genes in multiple sclerosis sibling pairs. J Neuroimmunol 1993;42:113-116
102. Hashimoto LL, Walter MA, Cox DW, Ebers GC. Immunoglobulin heavy chain variable region polymorphisms and multiple sclerosis susceptibility. J Neuroimmunol 1993;44:77-83
103. Wren DR, Noble M. Oligodendrocytes and oligodendrocyte/type2 astrocyte progenitor cells of adult rats are specifically susceptible to the lytic effects of complement in absence of antibody. Proc Natl AcadSciUSA 1989;86:9025-9029
104. Gay D, Esiri M. Blood-brain barrier damage in acute multiple sclerosis plaques: an immunocytological study. Brain 1991; 114:557-572
105. Procaccia S, Lanzanova D, Caputo D, Ferrante P, Papini E, Gasparini A, et al. Circulating immune complexes in serum and in cerebrospinal fluid of patients with multiple sclerosis: characterization and correlation with the clinical course. Acta Neurol Scand 1988;77:373-381
106. Compston DA, Morgan BP, Oleesky D, Fifield R, Campbell AK. Cerebrospinal fluid C9 in demyelinating disease. Neurology 1986;36:1503-1506
107. Sanders ME, Koski CL, Robbins D, Shin ML, Frank MM, Joiner KA. Activated terminal complement in cerebrospinal fluid in Guillain-Barre syndrome and multiple sclerosis. J Immunol 1986;136:4456-4459
108. Bertrams J, Opferkuch W, Grosse-Wilde H, Luboldt W, Schuppien W, Kuweit E. C2 hypocomplementaemia in multiple sclerosis [letter]. Lancet 1976;2:1358-1359
109. Francis DA, Batchelor JR, McDonald WI, Hing SN, Dodi IA. Fielder AH, et al. Multiple sclerosis in north-east Scotland: an association with HLA-DQw 1. Brain 1987:110:181-196
110. Stewart GJ, Basten A, Kirk RL. Strong linkage disequilibrium between HLA-Dw2 and BfS in multiple sclerosis and in the normal population. Tissue Antigens 1979:14:86-97
111. Franciotta D, Dondi E, Bergamaschi R, Piccolo G, d'Eril GVM, Cosi V, et al. HLA complement gene polymorphisms in multiple sclerosis: a study on 80 Italian patients. J Neurol 1995:242:6468
112. Kaiman B, Takacs K, Gyodi E, Kramer J, Fust G, Tauszik T, et al. Sclerosis multiplex in Gypsies. Acta Neurol Scand 1991 ;84:181 185
113. Jans H, Sorensen H. C3 polymorphism and circulating immune complexes in patients with multiple sclerosis. Acta Neurol Scand 1980:62:237-243
114. Bulman DE, Armstrong H, Ebers GC. Allele frequencies of the third component of complement (C3) in MS patients. J Neurol Neurosurg Psychiatry 1991:54:554-555
115. Schröder R, Zander H, Andreas A, Mauff G. Multiple sclerosis: immunogenetic analyses of sib-pair double case families. II. Studies on the association of multiple sclerosis with C2, C4, BF, C3, C6, and GLO polymorphisms. Immunobiology 1983:164:160-170
116. Selmaj KW, Raine CS. Experimental autoimmune encephalomyelitis: immunotherapy with anti-tumor necrosis factor antibodies and soluble tumor necrosis factor receptors. Neurology 1995;45(Suppl6):S44-S49
117. Selmaj K, Raine CS, Cannella B, Brosnan CF. Identification of lymphotoxin and tumor necrosis factor in multiple sclerosis lesions. J Clin Invest 1991;87:949-954
118. Sharief MK, Hentges R. Association between tumor necrosis factor-a and disease progression in patients with multiple sclerosis. NEnglJMed 1991;325:467-472
119. Beck J, Rondot P, Catinot L, Falcoff E, Kirchner H, Wietzerbin J. Increased production of interferon gamma and tumor necrosis factor precedes clinical manifestation in multiple sclerosis: do cytokines trigger off exacerbations? Acta Neurol Scand 1988; 78:318-323
120. Correale J, Gilmore W, McMillan M, Li S, McCarthy K, Le T, et al. Patterns of cytokine secretion by autoreactive proteolipid proteinspecific T cell clones during the course of multiple sclerosis. J Immunol 1995;154:2959-2968
121. Ruddle NH, Bergman CM, McGrath KM, Lingenheld EG, Grunnet ML, Padula SJ, et al. An antibody to lymphotoxin and tumor necrosis factor prevents transfer of experimental allergic encephalomyelitis. J Exp Med 1990; 172:1193-1200
122. Bettinotti MP, Härtung K, Deicher H, Messer G, Keller E, Weiss EH, et al. Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus: TNFB-MHC haplotypes. Immunogenetics 1993;37:449-454
123. Pociot F, Molvig J, Wogensen L, Worsaae H, Dalboge H, Back L, et al. A tumour necrosis factor beta gene polymorphism in relation to monokine secretion and insulin-dependent diabetes mellitus. Scand J Immunol 1991;33:37-49
124. Fugger L, Morling N, Ryder LP, Georgsen J, Jakobsen BK, Svejgaard A, et al. Nco I restriction fragment length polymorphism (RFLP) of the tumor necrosis factor (TNFa) region in four autoimmune diseases. Tissue Antigens 1989;34:17-22
125. Messer G, Spengler U, Jung MC, Honold G, Eisenburg J, Scholz S, et al. Allelic variation in the TNF-β gene does not explain the low TNF-β response in patients with primary biliary cirrhosis. Scand J Immunol 1991;34:735-740
126. Fugger L, Morling N, Sandberg-Wollheim M, Ryder LP, Svejgaard A. Tumor necrosis factor alpha gene polymorphism in multiple sclerosis and optic neuritis. J Neuroimmunol 1990;27:85-88
127. Pociot F, Briant L, Jongeneel CV, Mölvig J, Worsaae H, Abbal M, et al. Association of tumor necrosis factor (TNF) and class II major histocompatibility complex alleles with the secretion of TNF-oc and TNF-β by human mononuclear cells: a possible link to insulindependent diabetes mellitus. EurJ Immunol 1993;23:224-231
128. McGuire W, Hill AVS, Allsopp CEM, Greenwood BM, Kwiatkowski D. Variation in the TNF-a promoter region associated with susceptibility to cerebral malaria. Nature 1994;371:508511
129. Kwiatkowski D, Hill AVS, Sambou I, Twumasi P, Castracane J, Manogue KR, et al. TNF concentration in fatal cerebral, non-fatal cerebral, and uncomplicated Plasmodium falciparum malaria. Lancet 1990;336:1201-1204
130. Danis VA, Millington M, Hyland V, Lawford R, Huang Q, Grennan D. Increased frequency of the uncommon allele of a tumour necrosis factor alpha gene polymorphism in rheumatoid arthritis and systemic lupus erythematosus. Dis Markers 1995;12:127-133
131. Wilson AG, Gordon C, di Giovine FS, de Vries N, van de Putte LB, Emery P, et al. A genetic association between systemic lupus erythematosus and tumor necrosis factor alpha. Eur J Immunol 1994;24:191-195
132. He B, Navikas V, Lundahl J, Söderström M, Hillert J. Tumor necrosis factor ct-308 alleles in multiple sclerosis and optic neuritis. J Neuroimmunol 1995;63:143-147
133. Wingerchuk DM, Liu Q, Sobell J, Sommer S, Weinshenker BG. A population-based case-control study of the tumor necrosis factor alpha -308 polymorphism in multiple sclerosis. Neurology [in press]
134. Weinshenker BG, Wingerchuk DM, Liu Q, Bissonnett A, Schaid D, Sommer S. Genetic variation in the tumor necrosis factor alpha gene and the outcome of multiple sclerosis. Neurology 1997; 49:378-385
135. Newman NJ. Leber's hereditary optic neuropathy: new genetic considerations. Arch Neurol 1993;50:540-548
136. Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992;! 15:979-989
137. Flanigan KM, Johns DR. Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology 1993; 43:2720-2722
138. Kellar-Wood H, Robertson N, Govan GG, Compston DAS, Harding AE. Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 1994;36:109112
139. Nishimura M, Obayashi H, Ohta M, Uchiyama T, Hao Q, Saida T. No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan. Neurology 1995;45:1333-1334
140. Powell BR, Kennaway NG, Rhead WJ, Reece CJ, Burlingame TG, Buist NR. Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation. Neurology 1990;40:487491
141. Johns DR, Hurko O, Attardi G, Griffin JW. Molecular basis of a new mitochondrial disease: acute optic neuropathy and myelopathy [abstract]. Ann Neurol 1991;30:234
142. Middleton D, Megaw G, Cullen C, Hawkins S, Darke C, Savage DA. TAP 1 and TAP2 polymorphism in multiple sclerosis patients. Hum Immunol 1994;40:131 -134
143. Liblau R, van Endert PM, Sandberg-Wollheim M, Patel SD, Lopez MT, Land S, et al. Antigen processing gene polymorphisms in HLA-DR2 multiple sclerosis. Neurology 1993;43:1192-1197
144. Bell RB, Ramachandran S. The relationship of TAPI and TAP2 dimorphisms to multiple sclerosis susceptibility. J Neuroimmunol 1995;59:201-204
145. Spurkland A, Knutsen I, Undlien DE, Vartdal F. No association of multiple sclerosis to alleles at the TAP2 locus. Hum Immunol 1994;39:299-301
146. McCombe PA, Clark P, Frith JA, Hammond SR, Stewart GJ, Pollard JD, et al. a-1 Antitrypsin phenotypes in demyelinating disease: an association between demyelinating disease and the allelePiM3. Ann Neurol 1985;18:514-516
147. Lolin YI, Ward AM. Alpha-1-antitrypsin phenotypes and associated disease patterns in neurological patients. Acta Neurol Scand 1995;91:394-398
148. Francis DA, Klouda PT, Brazier DM, Batchelor JR, McDonald Wl, Hern JE. Alpha-1-antitrypsin (Pi) types in multiple sclerosis and lack of interaction with immunoglobulin (Gm) markers. J Immunogenet 1988;15:251-255
149. Kuokkanen S, Sundvall M, Terwilliger JD, Tienari PJ, Wikstrom J, Holmdahl R, et al. A putative vulnerability locus to multiple sclerosis maps to 5pl4-pl2 in a region syntenic to the murine locus Eae2. Nat Genet 1996; 13:477-480
150. Bell JI, Lathrop GM. Multiple loci for multiple sclerosis. Nat Genet 1996; 13:377-378
151. D'Hooghe MB, Ebers GC. HLA in genetic susceptibility of multiple sclerosis: a recessive effect and the role of other genes [abstract]. Neurology 1989;39(Suppl 1):368