45
Views
19
CrossRef citations to date
0
Altmetric
Research Article

Genetics of Multiple Sclerosis: Determinants of Autoimmunity and Neurodegeneration

, &
Pages 225-234 | Published online: 07 Jul 2009

  • Eichhorst, H. (1896) "Ueber infantile und hereditare multiple sklerose", Virchows Arch. Pathol. Anat. 146, 173 - 192
  • Dean, G. (1967) "Annual incidence, prevalence and mortality of multiple sclerosis in white South-African born and in white immigrants to South-Africa", Br. Med. J. 2, 724 - 730
  • Alter, M., Hapern, L., Kurland, L.T., et al., (1962) "Multiple sclerosis in Israel: Prevalence among immigrants and native inhabitants", Arch. Neurol. 7, 253 - 263
  • Alter, M., Leibowitz, U. and Speer, J. (1966) "Risk of multiple sclerosis related to age of immigration to Israel", Arch. Neurol. 15, 234 - 237
  • Elian, M., Alonso, A., Awad, J., et al., (1987) "HLA association with multiple sclerosis in Sicily and Malta", Dis. Markers 5, 89 - 99
  • Kurtzke, J.F., Beebe, G.W. and Norman, J.E. (1979) "Epidemiology of multiple sclerosis in US veterans, 1. Race, sex and geographic distribution", Neurology 29, 1228 - 1235
  • Pratt, R.T.C., Compston, N.D. and McAlpine, D. (1951) "The familial incidence of multiple sclerosis and its significance", Brain 74, 191 - 232
  • Bulman, D.E. and Ebers, G.C. (1992) "The geography of multiple sclerosis reflects genetic susceptibility", J. Trop. Geogr. Neurol. 2, 66 - 72
  • Sadovnick, A.D. and Baird, P.A. (1988) "The familial nature of multiple sclerosis: Age-corrected empiric recurrence risks for children and siblings of patients", Neurology 38, 990 - 991
  • Heltberg, A. and Holm, N.V. (1982) "Concordance in twins and recurrence in sibship in multiple sclerosis", Lancet i, 1068
  • Bobowick, A.R., Kurtzke, J.F., Brody, J.F., et al., (1978) "Twin study of multiple sclerosis. An epidemiologic inquiry", Neurology 28, 978 - 987
  • Kinnunen, E., Juntunen, J., Ketonen, L., et al., (1988) "Genetic susceptibility to multiple sclerosis: A co-twin study of a nation-wide series", Arch. Neurol. 45, 1108 - 1111
  • Mumford, C.J., Wood, N.W., Kellar-Wood, H., et al., (1994) "The British Isles survey of multiple sclerosis in twins", Neurology 44, 11 - 15
  • Ebers, G.C., Bulman, D.E., Sadovnick, A.D., et al., (1986) "A population-based twin study in multiple sclerosis", N. Engl. J. Med. 315, 1638 - 1642
  • Sadovnick, A.D., Armstrong, H., Rice, G.P.A., et al., (1993) "A population-based twin study of multiple sclerosis in twins: Update", Ann. Neurol. 33, 281 - 285
  • Sadovnick, A.D., Ebers, G.C., Dyment, D.A., et al., (1996) "Evidence for genetic basis of multiple sclerosis", Lancet 347, 1728 - 1730
  • Ebers, G.C., Sadovnick, A.D., Risch, N.J., et al., (1995) "A genetic basis for familial aggregation in multiple sclerosis", Nature 377, 150 - 151
  • Ebers, G.C., Yee, I.M.L., Sadovnick, A.D., et al., (2000) "Conjugal multiple sclerosis: population-based prevalence and recurrence risk in offspring", Ann. Neurol. 48, 927 - 931
  • Kalman, B., Takacs, K., Gyodi, E., et al., (1991) "Sclerosis multiplex in Gypsies", Acta Neurol. Scand. 84, 1981 - 1985
  • Hillert, J. (1994) "Human leukocyte antigen studies in multiple sclerosis", Ann. Neurol. 36 (Suppl), S15 - S17
  • Fogdell, A., Hillert, J., Sachs, C., et al., (1995) "The multiple sclerosis and narcolepsy-associated HLA Class II haplotype includes the DRB5*0101 allele", Tissue Antigens 46, 333 - 336
  • Hillert, J. and Olerup, O. (1993) "Multiple sclerosis is associated with genes within and close to the HLA-DR-DQ subregion on a normal DR15,DQ6,Dw2 haplotype", Neurology 43, 163 - 168
  • Sandberg-Wollheim, M., Ciusani, E., Salmaggi, A., et al., (1995) "An evaluation of tumor necrosis factor microsatellite alleles in genetic susceptibility to multiple sclerosis", Mult. Scler. 1, 181 - 185
  • Kalman, B. and Lublin, F.D. (1999) "Genetics of multiple sclerosis. Dossier: Multiple Sclerosis", Biomed. Pharmacother. 53, 358 - 370, Review
  • Ebers, G.C., Kukay, K., Bulman, D.E., et al., (1996) "A full genome search in multiple sclerosis", Nat. Genet. 13, 472 - 476
  • The Multiple Sclerosis Genetics Group (1996) "A complete genomic screen for multiple sclerosis underscores a role for the major histocompatibility complex", Nat. Genet. 13, 469 - 471
  • Sawcer, S., Jones, H.B., Feakes, R., et al., (1996) "A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22", Nat. Genet. 13, 464 - 468
  • Kuokannen, S., Gschwend, M., Rioux, J.D., et al., (1997) "Genomewide scan of multiple sclerosis in Finnish multiplex families", Am. J. Hum. Genet. 61, 1379 - 1387
  • Becker, K.G., Simon, R.M., Bailey-Wilson, J.E., et al., (1998) "Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases", Proc. Natl Acad. Sci. 95, 9979 - 9984
  • Green, A.J., Barcellos, L.F., Rimmler, J.B., et al., (2001) "Sequence variation in the transforming growth factor-beta1 (TFGB1) gene and multiple sclerosis susceptibility", J. Neuroimmunol. 116, 116 - 124
  • Chataway, J., Feakes, R., Coraddu, F., et al., (1998) "The genetics of multiple sclerosis: principles, background and updated results of the United Kingdom systematic genome screen", Brain 121, 1869 - 1887
  • The Transatlantic Multiple Sclerosis Genetics Cooperative (2001) "A meta-analysis of genome screens in multiple sclerosis", Mult. Scler. 7, 3 - 11
  • Wise, L.H., Lanchbury, J.S. and Lewis, C.M. (1999) "Meta-analysis of genome searches", Ann. Hum. Genet. 63, 263 - 272
  • Ebers, G.C., Paty, D.W., Stiller, C.R., et al., (1982) "HLA typing in multiple sclerosis sibling pairs", Lancet i, 88 - 90
  • Francis, D.A., Batchelor, J.R., McDonald, W.I., et al., (1987) "HLA genetic determinants in familial MS", Tissue Antigens 29, 7 - 12
  • Eoli, M., Pandolfo, M., Amoroso, A., et al., (1995) "Evidence of linkage between susceptibility to multiple sclerosis and HLA class II loci in Italian multiplex families", Eur. J. Hum. Genet. 3, 303 - 311
  • Kinnunen, E., Koskimies, S., Lagerstedt, A. and Wikstrom, J. (1984) "Histocompatibility antigens in familial multiple sclerosis in a high risk area of the disease", J. Neurol. Sci. 65, 147 - 155
  • Voskuhl, R., Goldstein, A.M., Simonis, T., et al., (1996) "DR2/DQw1 inheritance and haplotype sharing in affected siblings from multiple sclerosis families", Ann. Neurol. 39, 804 - 807
  • Fogdell, A., Olerup, O., Fredrikson, S., et al., (1997) "Linkage analysis of HLA class II genes in Swedish multiplex families with multiplex sclerosis", Neurology 48, 758 - 762
  • Hillert, J., Kall, T., Vrethem, M., et al., (1994) "The HLA-Dw2 haplotype segregates closely with multiple sclerosis in multiplex families", J. Neuroimmunol. 50, 95 - 100
  • Haines, J.L., Terwedow, H.A., Burgess, K., et al., (1998) "Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity", Hum. Mol. Genet. 7, 1229 - 1234
  • Kellar-Wood, H.F., Wood, N.W., Holmans, P., et al., (1995) "Multiple sclerosis and the HLA D region: linkage and association studies", J. Neuroimmunol. 58, 183 - 190
  • Ligers, A., Dyment, D.A., Willer, C.J., et al., (2001) "Evidence of linkage with HLA-DR in DRB1*15-negative families with multiple sclerosis", Am. J. Hum. Genet. 69, 900 - 903
  • Kalman, B. and Lublin, F.D. (2001) "Spectrum and classification of inflammatory demyelinating diseases of the CNS", Curr. Neurol. Neurosci. Rep. 1, 249 - 256
  • Lucchinetti, C., Bruck, W., Parisi, J., Scheithauer, B., Rodriguez, M. and Lassmann, H. (2000) "Heterogeneity of multiple sclerosis lesions: implication for the pathognesis of demyelination", Ann. Neurol. 47, 707 - 717
  • Broadley, S.A., Deans, J., Sawcer, S., et al., (2000) "Autoimmune disease in first-degree relatives of patients with multiple sclerosis. A UK survey", Brain 123, 1102 - 1111
  • Heward, J. and Gough, S.C. (1997) "Genetic susceptibility to the development of autoimmune disease (Editorial)", Clin. Sci. (Colch) 93, 479 - 491
  • McCombe, P.A., Chalk, J.B. and Pender, M.P. (1990) "Familial occurrence of multiple sclerosis with thyroid disease and systemic lupus erythematosus", J. Neurol. Sci. 97, 163 - 171
  • Reveille, J.D., Wilson, R.W., Provost, T.T., et al., (1984) "Primary Sjogren's syndrome and other autoimmune diseases in families. Prevalence and immunogenetic studies in six kindreds", Ann. Intern. Med. 101, 748 - 756
  • Sadovnick, A.D., Paty, D.W. and Yannakoulias, G. (1989) "Concurrence of multiple sclerosis and inflammatory bowel disease (letter)", N. Engl. J. Med. 321, 762 - 763
  • De Baker, H.W.G., Balla, J.I., Burger, H.G., et al., (1972) "Multiple sclerosis and autoimmune diseases", Aust. N. Z. Med. J. 3, 256 - 260
  • De Keyser, J. (1988) "Autoimmunity in multiple sclerosis", Neurology 38, 371 - 374
  • Midgard, R., Gronning, M., Riise, T., et al., (1996) "Multiple sclerosis and chronic inflammatory diseases. A case-control study", Acta Neurol. Scand. 93, 322 - 328
  • Kira, J., Kanai, T., Nishimura, Y., et al., (1996) "Western versus Asian types of multiple sclerosis: immunogenetically and clinically distinct disorders", Ann. Neurol. 40, 569 - 574
  • Mirsattari, S.M., Johnston, J.B., McKenna, R., et al., (2001) "Aboriginals with multiple sclerosis. HLA types and predominance of neuromyelitis optica", Neurology 56, 317 - 323
  • Wingerchuck, D.M., Hogancamp, W.F., O'Brien, P.C. and Weinshenker, B.G. (1999) "The clinical course of neuromyelitis optica (Devic's syndrome)", Neurology 53, 1107 - 1114
  • Heinzlef, O., Alamowitch, S., Sazdovitch, V., et al., (2000) "Autoimmune diseases in families of French patients with multiple sclerosis", Acta Neurol. Scand. 101, 36 - 40
  • Undlien, D.E., Benedicte, A.L. and Thorsby, E. (2001) "HLA complex genes in type 1 diabetes and other autoimmune diseases. Which genes are involved", Trends Genet. 17, 93 - 100
  • Merriman, T.R., Cordell, H.J., Eaves, I.A., et al., (2001) "Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases", Diabetes 50, 184 - 194
  • Jawaheer, D., Seldin, M.F., Amos, C.I., et al., (2001) "A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases", Am. J. Hum. Genet. 68, 927 - 936
  • Wandstrat, A. and Wakeland, E. (2001) "The genetics of complex autoimmune diseases: non-MHC susceptibility genes", Nat. Immunol. 2, 802 - 809
  • Trapp, B.D., Peterson, J., Ransohoff, R.M., et al., (1998) "Axonal transection in multiple sclerosis lesions", N. Engl. J. Med. 338, 278 - 285
  • Vladimirova, O., Lu, F., Shawver, L. and Kalman, B. (1999) "The activation of protein kinase C induces higher production of reactive oxygen species by mononuclear cells in patients with multiple sclerosis than in controls", Inflamm. Res. 48, 412 - 416
  • Vladimirova, O., O'Connor, J., Cahill, A., Alder, H. and Kalman, B. (1998) "Oxidative damage to DNA in plaques of MS brains", Mult. Scler. 4, 413 - 418
  • Lu, F., Selak, M., O'Connor, J., Croul, S., Butunoi, C. and Kalman, B. (2000) "Oxidative damage to mitochondrial DNA and activity of mitochondrial enzymes in lesions of multiple sclerosis", J. Neurol. Sci. 177, 95 - 103
  • Williams, M.D., van Remmen, H., Conrad, C.C., et al., (1998) "Increased oxidative damage is correlated to altered mitochondrial function in heterozygous manganase superoxide dismutase knockout mice", J. Biol. Chem. 43, 28510 - 28515
  • Anderson, S., Bankier, A.T., Barell, B.G., et al., (1981) "Sequence and organization of the human mitochondrial genome", Nature 290, 457 - 464
  • Sadovnick, A.D., Bulman, D. and Ebers, G.C. (1991) "Parent child concordance in multiple sclerosis", Ann. Neurol. 29, 252 - 255
  • Lee, F., MacDonald, A.-M. and Aldren Turner, J.M. (1964) "Leber's disease with symptoms resembling disseminated sclerosis", J. Neurol. Neurosurg. Psychiatry 27, 415 - 421
  • Harding, A.E., Sweeney, M.G., Miller, D.H., et al., (1992) "Occurrence of multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation", Brain 115, 979 - 989
  • Flanigan, K.M. and Johns, D.R. (1993) "Association of the 11778 mitochondrial DNA mutation and demyelinating disease", Neurology 43, 2720 - 2722
  • Kellar-Wood, H., Robertson, N., Govan, G.G., Compston, D.A.S. and Harding, A.E. (1994) "Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis", Ann. Neurol. 36, 109 - 112
  • Olsen, N.K., Hansen, A.W., Norby, S., Edal, A.L., Jorgensen, J.R. and Rosenberg, T. (1995) "Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harboring the mitochondrial DNA 11778 mutation", Acta Neurol. Scand. 91, 326 - 329
  • Riordan-Eva, P., Sanders, M.D., Govan, G.G., Sweeney, M.G., Da Costa, J. and Harding, A.E. (1995) "The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation", Brain 118, 319 - 337
  • Hanefeld, F.A., Ernst, B.P., Wilichowski, E. and Cristen, H.-J. (1994) "Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis", Neuropediatrics 25, 331
  • Kalman, B., Lublin, F.D. and Alder, H. (1995) "Mitochondrial DNA mutations in multiple sclerosis", Mult. Scler. 1, 32 - 36
  • Mayr-Wohlfart, U., Paulus, C., Henneberg, A. and Rodel, G. (1996) "Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement", Acta Neurol. Scand. 94, 167 - 171
  • Nishimura, M., Obayashi, H., Ohta, M., Uchiyama, T., Hao, Q. and Saida, T. (1995) "No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan", Neurology 45, 1333 - 1334
  • Kalman, B., Rodriguez-Valdez, J.L., Bosch, U. and Lublin, F.D. (1997) "Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis", Mult. Scler. 2, 279 - 282
  • Kalman, B., Lublin, F.D. and Alder, H. (1996) "Characterization of the mitochondrial DNA in multiple sclerosis", J. Neurol. Sci. 140, 75 - 89
  • Kalman, B. and Alder, H. (1998) "Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis?", Rev. Acta Neurol. Scand. 98, 232 - 237
  • Kalman, B., Li, S., Chatterjee, D., O'Connor, J., Voehl, M.R., Brown, M.D. and Alder, H. (1999) "Large scale screening of the mitochondrial DNA reveals no pathogenic or polymorphic mutations but a haplotype associated with multiple sclerosis in Caucasians", Acta Neurol. Scand. 99, 16 - 25
  • Torroni, A., Lott, M.T., Cabell, M.F., Chen, Y.-S., Lavergne, L. and Wallace, D.C. (1994) "MtDNA and the origin of Caucasians: Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region", Am. J. Hum. Genet. 55, 760 - 776
  • Brown, M.D., Sun, F. and Wallace, D.C. (1997) "Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11,778 or 14,484 mutations on an mtDNA lineage", Am. J. Hum. Genet. 60, 381 - 387
  • Kruglyak, L. and Nickerson, D.A. (2001) "Variation is the spice of life", Nat. Genet. 27, 234 - 236
  • The International SNP Map Working Group (2001) "A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms", Nature 409, 928 - 933
  • Reich, D.E., Cargill, M., Bolk, S., et al., (2001) "Linkage disequilibrium in the human genome", Nature 411, 199 - 204
  • Abecasis, G.R., Noguchi, E., Heizmann, A., et al., (2001) "Extent and distribution of linkage disequilibrium in three genomic regions", Am. J. Hum. Genet. 68, 191 - 197
  • Huttley, G.A., Smith, M.W., Carrington, M. and O'Brian, S.J. (1999) "A scan for linkage disequilibrium across the human genome", Genetics 152, 1711 - 1722

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.