Genetics of demyelinating diseases

Brain Pathology

Volumn 6, Issue 3, 1996, Pages 289-302

  Oksenberg, Jorge R ^a   Seboun, Eric ^b   Hauser, Stephen L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN HEAVY CHAIN; MYELIN BASIC PROTEIN; T LYMPHOCYTE ANTIGEN;

CONFERENCE PAPER; DEMYELINATING DISEASE; GENETIC DISORDER; HUMAN; MAJOR HISTOCOMPATIBILITY COMPLEX; MULTIPLE SCLEROSIS;

EID: 0030018234     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1996.tb00856.x     Document Type: Conference Paper

References (86)

1. Abraham LJ, Marley JV, Nedospasov SA, Cambon-Thomsen A, Crouau-Roy B, Dawkins RL, Giphart MJ (1993) Microsatellite, restriction fragment-length polymorphism, and sequence-specific oligonucleotide typing of the tumor necrosis factor region. Hum Immunol 38: 17-23
2. Allen M, Sandberg-Wollheim M, Sjogren K, Herlich HA, Petterson U, Gyllensten U (1994) Association of susceptibility to multiple sclerosis in Sweden with HLA class II DRB1 and DQB1 alleles. Hum Immunol 39: 41-48
3. Altmann DM, Sansom D, Marsh SGE (1991) What is the basis for HLA-DQ association with autoimmune disease? Immunol Today 12: 267-270
4. Beall SS, Bidison W, McFarlin DE, Mc Farland HF, Hood LE (1993) Susceptibility to multiple sclerosis is determined in part by inheritance of a 157-kb region of the TCR V beta chain locus and HLA class II genes. J Neuroimmunol 45: 53-60
5. Beall SS, Concannon P, Charmley P, McFarland HF, Gatti RA, Hood LE, McFarlin DE, Biddison WE (1989) The germline repertoire of T cell receptor β-chain genes in patients with chronic progressive multiple sclerosis J Neuroimmunol 21: 59-66
6. Begovich AB, Helmuth RC, Oksenberg JR, Sakai K, Tabira T, Sasazuki T, Steinman L, Erlich HA (1990) HLA-DP beta and susceptibility to multiple sclerosis: an analysis of caucasoid and Japanese patient populations Hum Immunol 28 365-372
7. Begovich AB, McKlure GR, Suraj V, Helmuth R, Fildes N, Bugawan TL, Erlich HA, Klitz W (1992) Polymorphism, recombination and linkage disequilibrium within the HLA class II region J Immunol 148: 249-258
8. Bertrams J, Kuwert E, Liedtke U (1972) HLA antigens and multiple sclerosis. Tissue Antigens 2: 405-408
9. Boylan KB, Ayers TM, Popko B, Takahashi N, Hood LE, Prusiner SB (1990) Repetitive DNA (TGGA)n 5′ to the human myelin basic protein gene: a new oligonucleotide repetitive sequence showing length polymorphism Genomics 6: 16-22
10. Boylan KB, Takahashi N, Paty DW, Sadovnick AD, Diamond M, Hood LE, Prusiner SB (1990) DNA length polymorphism 5′ to the myelin basic protein gene is associated with multiple sclerosis, Ann Neurol 27: 291-297
11. Colonna M, Bresnahan M, Bahram S, Strominger JL, Spies T (1992) Allelic variants of the human putative peptide transporter involved in antigen processing. Proc Natl Acad Sci USA 89: 3932-3936
12. Dawson DV, Kaplan EB, Elston RC (1990) Extensions to sib-pair linkage test applicable to disorders characterized by delayed onset. Genet Epid 7 453-456
13. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380: 152-154
14. Ebers GC, Bulman DE, Sadovnick AD, Paty DW, Warren S, Hader W, Murray TJ, Seland P, Duquette P, Grey T (1986) A population-based study of multiple sclerosis in twins New Engl J Med 315: 1638-1642
15. Ebers GC, Paty D, Stiller CR (1982) HLA-typing in multiple sclerosis sibling pairs Lancet 10: 88-90
16. Ebers GC, Sadovnick AD (1994) The role of genetic factors in multiple scleorsis susceptibility. J Neuroimmunol 54: 1-17
17. Ebers GC, Sadovnick AD, Risch NJ (1995) A genetic basis for familial aggregation in MS.Canadian Collaborative Study Group. Nature 377: 151-151
18. Fugger L, Sandberg-Wolheim M, Morling N, Ryder LP, Svejgaard A (1990) The germline repertoire of T-cell receptor beta chain genes in patients with relapsing/remitting multiple sclerosis or optic neuritis Immunogenetics 278-280
19. Gaiser CN, Johnson MJ, de Lange G, Rassenti L, Cavalli-Sforza LL, Steinman L (1987) Susceptibility to multiple sclerosis associated with an immunoglobulin gamma 3 restriction fragment length polymorphism J Clin Invest 79: 309-13
20. Garcia-Merino A, Alper CA, Usuku K, Marcus-Bagley D, Lincoln R, Awdeh Z, Yunis EJ, Eisenbarth GS, Brink SJ, Hauser SL (1996) Tumor necrosis factor microsatellite haplotypes in relation to extended haplotypes, susceptibility to diseases associated with the major histocompatibility complex, and TNF secretion. Hum Immunol. In press.
21. Graham CA, Kirk CW, Nevin NC, Droogan AG, Hawkins SA, McMilian SA, McNeill TA (1993) Lack of associatioin between myelin basic protein gene microsatellite and multiple sclerosis Lancet 341: 1596
22. Hashimoto LL, Mak TW, Ebers GC (1992) T-cell alpha chain polymorphisms in multiple sclerosis. J Neuroimmunol 40: 41-48
23. Hashimoto LL, Walter MA, Cox DW, Ebers GC (1993) Immunoglobulin heavy chain variable region polymorphisms and multiple sclerosis susceptibility. J Neuroimmunol 47 77-84
24. Hauser SL, Fleinschnick E, Weiner HL, Marcus D, Awdeh Z, Yunis EJ, Alper CA (1989) Extended major histocompatibility complex haplotypes in patients with multiple sclerosis. Neurol 39: 275-277
25. Hillert J, Kall T, Vrethem M, Fredrikson S, Ohlson M, Olerup O (1994) The HLA-Dw2 haplotype segregates closely with multiple sclerosis in multiplex families. J Neuroimmunol 50: 95-100
26. Hiliert J, Olerlup O (1992) Germ-line polymorphism of TCR genes and disease susceptibility - fact or hypothesis? Immunol Today 13: 47-49
27. Hilton AA, Slavin AJ, Hilton DJ, Bernard CCA (1995) Characterization of cDNA and genomic clones encoding human myelin oligodendrocyte glycoprotein. J Neurochem 136: 3239-3245
28. Ikuta K, Ogura T, Shimizu A, Honjo T (1985) Low frequency of somatic mutation in beta chain variable region genes of human T-cell receptors. Proc Natl Acad Sci USA 82: 7701-7705
29. Kaufman JF, Auffray C, Korman AJ, Schackelford DA, Strominger JL (1984) The HLA clas II molecules of the human and murine major histocompatibility complex. Cell 36: 1-13
30. Kellar-Wood H, Robertson N, Govan GG, Compston DA, Harding AE (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 36: 109-112
31. Kellar-Wood HF, Wood NW, Holmans P, Clayton D, Robertson N, Compston DA (1995) Multiple sclerosis and the HLA-D region: linkage and association studies. J Neuroimmunol 58: 183-190
32. Kerlero de Rosbo N, Milo R, Lees MB, Burger D, Bernard CCA, Ben-Nun A (1993) Reactivity to myelin antigens in multiple sclerosis. J Clin Invest 92: 2602-2608
33. Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genetics 11: 241-247
34. Liblau R, van Endert PM, Sandberg-Wollheim M, Patel SD, Lopez MT, Land S, Fugger L, McDevitt HO (1993) Antigen processing gene polymorphisms in HLA-DR2 multiple sclerosis. Neurology 43: 1192-1197
35. Lynch SG, Rose JW, Petajan JH, Leppert M (1992) Discordance of T-cell receptor alpha chain gene in familial multiple sclerosis. Neurol 42: 839-844
36. Lynch SG, Rose JW, Petajan JH, Stauffer D, Kamerath C, Leppert M (1991) Discordance of T-cell receptor beta-chain genes in familial multiple sclerosis. Ann Neurol 30: 229-241
37. Maito S, Manerow N, Mickey MR, Terasaki PI (1972) Multiple sclerosis: association with HL-A3. Tissue Antigens 2: 1-4
38. Martinez-Naves E, Victoria-Gutierrez M, Uria DF, Lopez-Larrea C (1993) The germline repertorie of T cell receptor beta chain genes in multiple sclerosis patients from Spain. J Neuroimmunol 47: 9-14
39. Moins-Teisserenc H, Semana G, Alizadeh M, Loiseau P, Bobrynina V, Deschamps I, Edan G, Birebent B, Genetet B, Sabouraud O, Charron D (1995) TAP2 gene polymorphism contributes to genetic susceptibility to multiple sclerosis. Hum Immunol 42: 195-202
40. Monaco JJ (1992) Genes in the MHC that may affect antigen processing Curr Opin Immunol 4: 70-73
41. Multiple Sclerosis Genetics Group (1996) A complete genomic screen for multiple sclerosis. Nature Genetics In press.
42. Multiple Sclerosis Genetics Group (1996) Genetic susceptibility to multiple sclerosis' the role of myelin protein-encoding genes in familial multiple sclerosis. Submitted
43. Nedospasov SA, Udalova IA, Kuprash DV (1991) DNA sequence polymorphism at the tumor necrosis factor (TNF) locus Numerous TNF/lymphotoxin alleles tagged by two closely linked microsatellites in the upstream region of the lymphotoxin (TNF-beta). J Immunol 147: 1053-1059
44. Nepom G, Erlich HA (1991) MHC-class II molecules and autoimmunity. Ann Rev Immunol 9: 493-525
45. Oksenberg JR, Begovich AB, Erlich E, Steinman L (1993) Genetic factors in multiple sclerosis. JAMA 270: 2362-2369
46. Olerup O, Hillert J, Frednkson S, Olsson T, Kam-Hansen S, Moller E, Carlsson B, Wallin J (1989) Primarily chronic progressive and relapsing/remitting MS: Two immunogeneticalay distinct disease entities. Proc Natl Acad Sci USA 86: 7113-7117
47. Ott J (1996) Complex traits on the map. Nature 379: 772-773
48. Parham P, Ohta T (1996) Population biology of antigen presentation by MHC class I molecules. Science 272: 67-74
49. Paul NL, Ruddle NH (1988) Lymphotoxins. Ann Rev Immunol 6: 407-438
50. Pericak-Vance MA, Bebout JL, Gaskell PCJ, Yamaoka LH, Hung W-Y, Alberts MJ, Walker AP, Bartlett RJ, Haynes CA, Welsh KA, Earl NL, Heyman A, Clark CM, Roses AD (1991) Linkage studies in familial Alzheimer disease: evidence for chromosome linkage. Am H Hum Gent 48: 1034-1050
51. Pociot F, Briant L, Jongeneel CV, Molvig J, Worsaae H, Abbal M, Thomsen M, Nerup J, Cambon-Thomsen A (1993) Association of tumor necrosis factor and class II major histocompatibility complex alleles with secretion of TNF-alpha and TNF-beta by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus. Eur J Immunol 23: 224-231
52. Powis SH, Tonks S, Mockridge I, Kelly AP, Bodmer JG, Trowsdale J (1993) Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2. Immunogenetics 37: 373-380
53. Powis SJ, Deverson EV, Coadwell WJ, Ciruela A, Huskisson NS, Smith H, Butcher GW, Howard JC (1992) Effect of polymorphism of an MHC linked transporter on the peptides assembled in a class I molecule. Nature 357: 211-215
54. Pullen AM, Kappler JW, Marrack P (1989) Tolerance to self antigens shapes the T-cell repertoire. Immunol Rev 107: 125-139
55. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118: 319-337
56. Risch N (1990) Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 46: 222-228
57. Ronnigen KS, Undlein DE, Ploski R, Colonna M, Strominger JL, Thorsby E (1993) Allelic variants of the human putative peptide transporter TAP2 and susceptibility to type I diabetes 'Abst 12th International Immunology and Diabetes Workshop Orlando, Florida, April 15-18 p. 16
58. Rose J, Gerken S, Lynch S, Pisani P, Varvil T, Otterud B, Leppert M (1993) Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene. Lancet 342: 1179-1181
59. Roth M-P, Dolbois L, Borot N, Pontarotti P, Clanet M, Coppin H (1995) Myelin oligodendrocyte glycoprotein (MOG) gene polymorphism and multiple sclerosis: no evidence of disease association with MOG. J Neuroimmunol 61: 117-122
60. Roth M-P, Nogueira L, Coppin H, Clanet M, Clayton J, Cambon-Thomsen A (1994) Tumor necrosis factor polymorphisms in multiple sclerosis: no additional association independent of HLA. J Neuroimmunol 51: 93-99
61. Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N, Chataway J, Robertson N, Clayton D, Goodfellow PN, Compston A (1996) A genome screen in multiple sclerosis. Nature Genetics In press:
62. Seboun E, Oksenberg JR, Hauser SL (1996) Molecular and genetic aspects of multiple sclerosis. In The molecular and genetic basis of neurological disease 2nd edition, Rosenberg RG, Prusiner SB, Di Mauro S, Barchi RL (Eds.) Butterworth-Hememann Publishers: Massachusetts In press.
63. Seboun E, Robinson MA, Doolittie TH, Ciulla TA, Kindt TJ, Hauser SL (1989) A susceptibility locus for multiple sclerosis is linked to the T cell receptor beta chain complex. Cell 57: 1095-1100
64. Spurkland A, Knutsen I, Undlien DE, Vartdal F (1994) No association of multiple sclerosis to alleles at the TAP2 locus. Hum Immunol 39: 299-301
65. Spurkland A, Ronningen K, Vandvik B, Thorsby E, Vartdal F (1991) HLA-DQA1 and HLA-DQB1 genes may jointly determine susceptibility to develop multiple sclerosis. Hum Immunol 30: 69-75
66. Stewart GJ, McLeod JG, Basten A, Bashir HV (1981) HLA family studies and multiple sclerosis: a common gene, dominantly expressed. Hum Immunol 3: 13-29
67. Svejgaard A, Ryder LP (1994) HLA and disease associations: detecting the strongest association. Tissue Antigens 43: 18-27
68. Szafer F, Oksenberg JR, Steinman L (1994) New allelic polymorphisms in TAP genes Immunogenet 39: 374
69. Tienari PJ, Terwilliger JD, Ott J, Palo J, Peltonen L (1994) Two-locus linkage analysis in multiple sclerosis. Genomics 19 320-325
70. Tienari PJ, Wikstrom J, Sajantila A, Palo J, Peltonen L (1992) Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet 340: 987-991
71. Todd JA, Acha-Orbea H, Bell JI, Chao N, Fronek Z, Jacob CO, McDermott M, Sinha AA, Timmerman L, Steinman L, McDevitt HO (1988) A molecular basis for MHC class II-associated autoimmunity. Science 240: 1003-1009
72. Trowsdale J (1993) Genomic structure and function in the MHC. Trends Genet 9: 117-122
73. Unanue ER (1992) Cellular studies on antigen presentation by class II MHC molecules Curr Opin Immunol 4: 63-69
74. Vartdal F, Sollid L, Vandvik B, Markussen G, Thorsby E (1989) Patients with multiple sclerosis carry DQβ1 genes which encode shared polymorphic amino acid sequences. Hum Immunol 25: 103-110
75. Walter MA, Gibson WT, Ebers GC, Cox DW (1991) Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region J Clin Invest 87: 1266-1273
76. Weber JL (1990) Informativeness of human (dC-dA)n (dG-dT)n polymorphisms Genomics 7: 524-530
77. Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction Am J Hum Genet 44: 388-396
78. Weeks DE, Lathrop M (1995) Polygenic disease: methods for mapping complex disease traits. Trends Genet 11: 513-519
79. Wei S, Charmley P, Birchfield RI, Concannon P (1995) Human T-cell receptor Vβ gene polymorphism and multiple sclerosis. Am J Hum Genet 56: 963-969
80. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Miilasseau P, Vaysseix G, Lathrop M (1992) A second generation linkage map of the human genome Nature 359: 794-801
81. Wood NW, Holmans. P., Clayton D, Robertson N, Compston DA (1994) No linkage or association between multiple sclerosis and the myelin basic protein gene in affected sibling pairs. J Neurol Neurosurg Psychiatry 57: 1191-1194
82. Wood NW, Sawcer SJ, Kellar-Wood HF, Holmans P, Clayton D, Robertson N, Compston DA (1995) The T-cell receptor beta locus and susceptibility to multiple sclerosis. Neurol 45: 1859-1863
83. Wood NW, Sawcer ST, Kellar-Wood HF, Holmans P, Clayton D, Robertson N, Compston DA (1996) A susceptibility gene for multiple sclerosis linked to the immunoglobulin heavy chain variable region. Neurol In press
84. Yu JS, Pandey JP, Massacesi L, Lincoln R, Ususku K, Seboun E, Hauser SL (1993) Segregation of immunoglobulin heavy chain constant region genes in multiple sclerosis sibling pairs. J Neuroimmunol 42: 113-116
85. Zheng B, Xue W, Kelso G (1994) Locus specific somatic hypermutation in germinal center T cells. Nature 372: 556
86. Zipp F, Weber F, Huber S, Sotgiu S, Czlonkowska A, Holler E, Albert E, Weiss EH, Wekerle H, Hohlfeld R (1995) Genetic control of multiple scierosis: increased production of lymphotoxin and tumor necrosis factor-alpha by HLA-DR2+ T cells. Ann Neurol 38: 723-730