32
Views
11
CrossRef citations to date
0
Altmetric
Original Article

Multiple Sclerosis: Multiple Etiologies, Multiple Genes?

Pages 259-269 | Published online: 08 Jul 2009

References

  • Kurtzke J F. Epidemiology of multiple sclerosis. Multiple sclerosis, J F. Hallpike, C WM Adams, W W. Tourtellotte. Williams and Wilkins, Baltimore 1983; 47–96
  • Rosati G, Aiello I, Pirastu Ml, et al. Sardinia, a high‐risk area for multiple sclerosis: a prevalence and incidence study in the district of Alghero. Ann Neurol 1987; 21: 190–4
  • Ebers G C., Bulman D. The geography of MS reflects genetic susceptibility. Neurology 1986; 36(Suppl 1)108
  • Page W F., Kurtzke J F., Murphy F M., Norma J E., Jr. Epidemiology of multiple sclerosis in U.S. veterans. V. Ancestry and the risk of multiple sclerosis. Ann Neurol 1993; 33: 632–9
  • Hammond S R., English D, de Wytt C, et al. The clinical profile of MS in Australia: a comparison between medium‐and high‐frequency prevalence zones. Neurology 1988; 38: 980–6
  • Dean G, Kurtzke J F. On the risk of multiple sclerosis according to age at immigration to South Africa. BMJ 1991; 3: 725–9
  • Allen I, Brankin B. Pathogenesis of multiple sclerosis: the immune diathesis and the role of viruses. J Neuropathol Exp Neurol 1993; 52: 95–105
  • Prlneas J W., Barnard R O., Kwon E E., et al. Multiple sclerosis: remyelination of nascent lesions. Ann Neurol 1993; 33: 137–51
  • Lassmann H. Comparative neuropathology of chronic experimental allergic encephalomyelitis and multiple sclerosis. Springer Verlag, New York 1983; 37–72
  • Sato J, Sakai K, Endoh M, et al. Experimental allergic encephalomyelitis mediated by murine T cell lines specific for myelin proteolipid protein. J Immunol 1987; 138: 179–84
  • Zamvil S S., Steinmann L. The T lymphocyte in experimental allergic encephalomyelitis. Annu Rev Immunol 1990; 8: 579–621
  • Oksenberg J R., Panzara M A., Begovich A B., 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
  • Sun J B. Autoreactive T and B cells in nervous system disease. Acta Neurol Scand Suppl 1993; 142: 1–56
  • Lehmann P V., Forsthuber T, Miller A, Secarz E E. Spreading of T‐cell autoimmunity to cryptic determinants of an autoantigen. Nature 1992; 358: 155–7
  • Perry L L., Bargaza‐Gillbert E, Trotter J L. T cell sensitization to proteolipid protein in myelin basic protein‐induced relapsing experimental allergic encephalomyelitis. J Neuroimmunol 1991; 38: 63–74
  • Traugott U. Multiple sclerosis: relevance of class I and class II MHC‐expressing cells to lesion development. J Neuroimmunol 1987; 16: 283–302
  • Selmaj K, Raine C. Tumor necrosis factos mediates myelin and oligodendrocyte damage in vitro. Ann Neurol 1989; 23: 339–46
  • Miller R. Genetic aspects of multiple sclerosis. Arch Neurol Psychiat (Chicago) 1953; 70: 733–4
  • Pratt R TC, Compston A D., McAlpine D. The familial incidence of disseminated sclerosis and its significance. Brain 1951; 74: 191–232
  • Mackay R P., Myrianthopoulos N C. Multiple sclerosis in twins and their relatives. Arch Neurol 1966; 15: 449–62
  • Shapira K, Poskanzer D C., Miller H. Familiar and conjugal multiple sclerosis. Brain 1963; 86: 315–32
  • Sadovnik A D., Baird P A., Ward R H. Multiple sclerosis: updated risks for relatives. Am J Med Genet 1988; 29: 533–41
  • Wikström J. Studies on the clustering of multiple sclerosis in Finland. II. Microepidemiology in one high‐risk county with special reference to familial cases. Acta Neurol Scand 1975; 51: 173–83
  • Wikström J, Kinnunen E, Porras J. The age‐specific prevalence ratio of familial multiple sclerosis. Neuro‐epidemiology 1984; 3: 74–82
  • Doolittle T H., Myers R H., Lehrich J R., et al. Multiple sclerosis sibling pairs: clustered onset and familial predisposition. Neurology 1990; 40: 1546–52
  • Bulman D E., Sadovnick A D., Ebers G C. Age of onset in siblings concordant for multiple sclerosis. Brain 1991; 114: 937–50
  • Weinshenker B G., Bulman D, Carriere W, Baskerville J, Ebers G C. Comparison of sporadic and familial multiple sclerosis. Neurology 1990; 40: 1354–8
  • French Research Group on Multiple Sclerosis. Multiple sclerosis in 54 twinships: concordance rate is independent of zygosity. Ann Neurol 1992; 32: 724–7
  • Ebers G C., Bulman D E., Sadovnick A D., et al. A population‐based study of multiple sclerosis in twins. N Engl J Med 1986; 315: 1638–42
  • Kinnunen E, Koskenvuo M, Kaprio J, Aho K. Multiple sclerosis in a nation‐wide series of twins. Neurology 1987; 37: 1627–9
  • Sadovnick A D., Armstrong H, Rice G PA, et al. A population‐based study of multiple sclerosis in twins: update. Ann Neurol 1993; 33: 281–5
  • Mumford C J., Wood N W., Kellar‐Wood H, et al. The UK study of multiple sclerosis in twins. J Neurol 1992; 239(Suppl 2)62, (abstract)
  • McFarland H F., Patronas N J., McFarlin D E., et al. Studies of multiple sclerosis in twins using MRI (abstract). Neurology 1985; 35(Suppl 1)137
  • Uitdehaag B MJ, Polman C H., Valk J, et al. Magnetic resonance imaging studies in multiple sclerosis twins. J Neurol Neurosurg Psychiatry 1989; 52: 1417–9
  • Trowsdale J. Genomic structure and function in the MHC. Trends Genet 1993; 9: 117–22
  • Hauser S L., Fleischnick E, Weiner H L., et al. Extended major histocompatibility complex haplotypes in patients with multiple sclerosis. Neurology 1989; 39: 275–7
  • Tienari P J., Wikström J, Koskimies S, Partanen J, Palo J, Peltonen L. Reappraisal of HLA in multiple sclerosis: close linkage in multplex families. Eur J Hum Genet 1993; 1: 257–68
  • Morling N, Sandberg‐Wollheim M, Fugger L. Immuno‐genetics of multiple slcerosis and optic neuritis: DNA polymorphism of HLA class II genes. Immunogenetics 1992; 35: 391–4
  • Hillert J, Grönning M, Nyland H, Olerup O. An immunogenetic heterogeneity in multiple sclerosis. J Neurol Neurosurg Psychiatry 1992; 55: 887–90
  • Spurkland A, Ronningen K S., Vandvik B, et al. HLA‐DQA1 and HLA‐DQB1 genes may jointly determine susceptibility to develop multiple sclerosis. Hum Immunol 1991; 30: 69–75
  • Stewart G J., McLeod J G., Basten A, Bashir H V. HLA family studies in multiple sclerosis: a common gene, dominantly expressed. Hum Immunol 1981; 3: 13–29
  • Olerup O, Hillert J. HLA class II‐associated genetic susceptibility in multiple sclerosis: a critical evaluation. Tissue Antigens 1991; 38: 1–15
  • Cullen C G., Middleton D, Savage D A., Hawkins S. HLA‐DR and ‐DQ DNA genotyping in multiple sclerosis patients in northern Ireland. Hum Immunol 1991; 30: 1–6
  • Francis D A., Thompson A J., Brookes P, et al. Multiple sclerosis and HLA: is the susceptibility gene really HLA‐DR or‐DQ?. Hum Immunol 1991; 32: 119–24
  • Hao Q, Saida T, Kawakami H, et al. HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA‐Cw3, HLA‐DR2, and HLA‐DQB1 0602. Hum Immunol 1992; 35: 116–24
  • Madigand M, Oger J L., Fauchet R, et al. HLA profiles in multiple sclerosis suggest two forms of disease and the existence of protective haplotypes. J Neurol Sci 1982; 53: 519–29
  • Haegert D G., Francis G S. Contribution of a single DQβ chain residue to multiple sclerosis in French Canadian. Hum Immunol 1992; 34: 85–90
  • Elian M, Alonso A, Awad J, et al. HLA associations with multiple sclerosis in Sicily and Malta. Dis Markers 1987; 5: 88–99
  • Lopez‐Larrea C, Uria D F., Coto E. HLA antigens in multiple sclerosis in Northern Spanish population. J Neurol Neurosurg Psychiatry 1990; 53: 434–5
  • Clerici N, Fernandez M. Restriction fragment length polymorphism analysis of HLA‐DR and DQ‐linked alleles in multiple sclerosis in Spain. J Neuroimmunol 1992; 41: 245–8
  • Marrosu M G., Muntoni F, Murru M R., et al. Sardinian multiple sclerosis is associated with HLA‐DR4. Neurology 1988; 38: 1749–53
  • Nishimura Y, Kamikawaji N, Fujisawa K, et al. Genetic control of immune response and disease susceptibility by the HLA‐DQ gene. Res Immunol 1991; 142: 459–66
  • Kruskall M S., Alper C A., Awdeh Z, et al. The immune response to hepatitis B vaccine in humans: inheritance patterns in families. J Exp Med 1992; 175: 495–502
  • Todd J, Bell J I., McDevitt H O. HLA‐DQβ gene contributes to susceptibility and resistance to insulin‐dependent diabetes mellitus. Nature 1987; 329: 599–604
  • Ilonen J, Lagerstedt A, Koskimies S, Reunanen M. HLA‐Dw1 and BfF as protective markers in multiple sclerosis. J Neuroimmunol 1983; 5: 283–8
  • Arnett F C. Genetic aspects of human lupus. Clin Immunol Immunopathol 1992; 63: 4–6
  • Bugawan T L., Angelini G, Larrick J, et al. A combination of a particular HLA‐DPβ allele and an HLA‐DQ hetero‐dimer confers susceptibility to coeliac disease. Nature 1989; 339: 470–2
  • Sheehy M J., Scharf S J., Rowe J R., et al. A diabetes‐susceptible HLA haplotype is best defined by a combination of HLA‐DR and ‐DQ alleles. J Clin Invest 1989; 83: 830–5
  • Tienari P J., Tuomilehto‐Wolf E, Tuomilehto J, et al. HLA‐haplotypes in Type 1 (insulin‐dependent) diabetes mellitus: molecular analysis of the HLA‐DQ locus. Diabetologia 1992; 35: 254–60
  • Erlich H A., Zeidler A, Chang J, et al. HLA class II alleles and susceptibility and resistance to insulin‐dependent diabetes mellitus in Mexican‐American families. Nature Genet 1993; 3: 358–64
  • Eldridge R, McFarland H, Sever J, et al. Familial multiple sclerosis: clinical, histocompatibility, and viral serological studies. Ann Neurol 1978; 3: 72–80
  • Ebers G C., Paty D W., Stiller C R., et al. HLA typing in multiple sclerosis sibling pairs. Lancet 1982; ii: 88–90
  • Govaerts A, Gony J, Martin‐Mondiere C, et al. HLA and multiple sclerosis: population and families study. Tissue Antigens 1985; 25: 187–99
  • Francis D A., Batchelor J R., McDonald W I., et al. HLA genetic determinants in familial MS. Tissue Antigens 1987; 29: 7–12
  • Alter M, Harshe M, Anderson E, Emme L, Yunis E J. Genetic association of multiple sclerosis and HL‐A determinants. Neurology 1976; 26: 31–6
  • Visscher B, Detels R, Dudley J P., et al. Genetic susceptibility to multiple sclerosis. Neurology 1979; 29: 1354–60
  • Kinnunen E, Koskimies S, Lagerstedt Wikström J. Histocompatibility antigens in familial multiple sclerosis in a high‐risk area of the disease. J Neurol Sci 1984; 65: 147–55
  • Sadovnick A D., Bulman D E., Hashimoto L, et al. The influence of gender on the susceptibility to multiple sclerosis in sibships. Arch Neurol 1991; 48: 586–8
  • Haile R W., Hodge S E., Visscher B R., et al. Genetic susceptibility to multiple sclerosis: a linkage analysis with age‐of‐onset corrections. Clin Genet 1980; 18: 160–7
  • Tiwari J L., Hodge S E., Terasaki P I., Spence M A. HLA and inheritance of multiple sclerosis: linkage analysis of 72 pedigrees. Am J Hum Genet 1980; 32: 103–11
  • Ho H Z., Tiwari J L., Halle R W., et al. HLA‐linked and unlinked determinants of multiple sclerosis. Immuno‐genetics 1982; 15: 509–17
  • Hillert J, Kail T, Vrethem M, et al. The HLA‐Dw2 haplotype segregates closely with multiple sclerosis in multiplex families. J Neuroimmunol 1994, (in press)
  • Martell M, Marcadet A, Strominger J, et al. Le genes α du recepteur des cellules T: une possible implication dans la susceptibilite genetique a la sclerose en plaques. C R Acad Sci ‘III’ 1987; 5: 105–10
  • Oksenberg J R., Sheritt M, Begovich A B., et al. T‐cell receptor Vα and Cα alleles associated with multiple sclerosis and myasthenia gravis. Proc Natl Acad Sci USA 1989; 86: 988–92
  • Beall S S., Concannon P, Charmley P, 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
  • Martinez‐Naves E, Victoria Gutierrez M, Uria D F., Lopez‐Larrea C. The germline repertoire of T cell receptor β‐chain genes in multiple sclerosis patients in Spain. J Neuroimmunol 1993; 47: 9–14
  • Hillert J, Chunmao L, Olerup O. No association with germline T cell receptor β‐chain gene alleles or haplo‐types in Swedish patients with multiple sclerosis. J Neuroimmunol 1991; 31: 141–7
  • Hillert J, Leng C, Olerup O. T‐cell receptor a chain germline polymorphisms in multiple sclerosis. Neurology 1992; 42: 80–4
  • Fugger L, Sandmerg‐Wollheim M, Morling N, et al. The germline repertoire of T‐cell receptor beta chain genes in patients with relapsing‐remitting multiple sclerosis or optic neuritis. Immunogenetics 1990; 31: 278–80
  • Hashimoto L L., Mak T W., Ebers G C. T cell receptor α chain polymorphism in multiple sclerosis. J Neuroimmunol 1992; 40: 41–8
  • Seboun E, Robinson M A., Doolittle T H., et al. A susceptibility locus for multiple sclerosis is linked to the T cell receptor β chain complex. Cell 1989; 57: 1095–100
  • Lynch S G., Rose J W., Petajan J H., Staufer D, Kamerath C, Leppert M. Discordance of T‐cell receptor β‐chain genes in familial multiple sclerosis. Ann Neurol 1991; 30: 402–10
  • Lynch S G., Rose J W., Petajan J H., Leppert M. Discordance of the T‐cell receptor alpha‐chain gene in familial multiple sclerosis. Neurology 1992; 42: 839–44
  • Robinson M A., Kindt T J. Linkage between T cell receptor genes and susceptibility to multiple sclerosis: a complex issue. Reg Immunol 1992; 4: 274–83
  • Millward B A., Welsh K I., Leslie R DG, et al. T cell receptor beta chain polymorphisms are associated with insulin‐dependent diabetes. Clin Exp Immunol 1987; 152–7
  • Concannon P, Wright J A., Wright L G., et al. T‐cell receptor genes and insulin‐dependent diabetes mellitus (IDDM): no evidence for linkage from affected sib pairs. Am J Hum Genet 1990; 47: 45–52
  • Pandey J P., Goust J M., Sailer J P., et al. Immunoglobulin heavy chain (Gm) allotypes in multiple sclerosis. J Clin Invest 1981; 67: 1797–800
  • Propert D N., Bernard C CA, Simons M J. Gm allotypes and multiple sclerosis. J Immunogenet 1982; 9: 359–61
  • Blanc M, Clanet M, Berr C, et al. Immunoglobulin allotypes and susceptibility to multiple sclerosis. J Neurol Sci 1986; 75: 1–5
  • Galser C N., Johnson M J., de Lange G, et al. Susceptibility to multiple sclerosis associated with an immunoglobulin gamma 3 restriction fragment length polymorphism. J Clin Invest 1987; 79: 309–13
  • Bulman D E., Pandey J P., Ebers G C. Gm allotypes in multiple sclerosis. Cellular and humoral immunological components of cerebrospinal fluid in multiple sclerosis, A Lowenthal, J Raus. Plenum Publishing, London 1987; 81–6
  • Yu J S., Pandey J P., Massacesi L, et al. Segregation of immunoglobulin heavy chain constant region genes in multiple sclerosis sibling pairs. J Neuroimmunol 1993; 42: 113–6
  • Hillert J. Immunoglobulin gamma constant gene region polymorphisms in multiple sclerosis. J Neuroimmunol 1993; 43: 9–14
  • Haile R WC, Goldstein A, Degos J D., Marazita A. A linkage analysis of the Gm locus and multiple sclerosis. Genet. Epidemiol 1985; 2: 29–34
  • Walter M A., Gibson W T., Ebers G C., Cox D W. Susceptibility to multiple sclerosis is associated with the proximal immunoglobulin heavy chain variable region. J Clin Invest 1991; 87: 1266–73
  • Hashimoto L L., Walter M A., Cox D W., Ebers G C. Immunoglobulin heavy chain variable region polymorphism and multiple sclerosis susceptibility. J Neuroimmunol 1993; 44: 77–84
  • Kamholz J, Spielman R, Gogolin K, et al. The human myelin basic protein gene: chromosomal localization and RFLP analysis. Am J Hum Genet 1987; 40: 365–73
  • Kamholz J, Toffenetti J, Lazzarini R A. Organization and expression of the human myelin basic protein gene. J Neurosci Res 1988; 21: 62–70
  • Deber C M., Reynolds S J. Central nervous system myelin: structure, function, and pathology. Clin Biochem 1991; 24: 113–34
  • Wucherpfennig K W., Weiner H L., Hafler D A. T‐cell recognition of myelin basic protein. Immunol Today 1991; 12: 277–82
  • Kristensson K, Holmes K V., Duchala C S., et al. Increased levels of myelin basic protein transcripts in virus‐induced demyelination. Nature 1986; 322: 544–7
  • Jordan C A., Friedrich V L., Jr, de Ferra F, et al. Differential exon expression in myelin basic protein transcripts during central nervous system (CNS) remyelination. Cell Mol Neurobiol 1990; 10: 3–18
  • Boylan K B., Ayers T M., Popko B, et al. Repetitive DNA (TGGA)n 5′ to the human myelin basic protein gene: a new form of oligonucleotide repetitive sequence showing length polymorphism. Genomics 1990; 6: 16–22
  • Boylan K B., Takahashi N, Paty D W., et al. DNA length polymorphism 5′ to the myelin basic protein gene is associated with multiple sclerosis. Ann Neurol 1990; 27: 291–7
  • Tienari P J., Wikström J, Sajantila A, Palo J, Peltonen L. Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet 1992; 340: 987–91
  • Pribyl T M., Campagnoni C W., Kampf K, et al. The human myelin basic protein gene is included within a 179‐kilobase transcription unit: expression in the immune and central nervous systems. Proc Natl Acad Sci USA 1993; 90: 10695–9
  • Rose J, Gerken S, Lynch S, et al. Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene. Lancet 1993; 341: 1179–81
  • Graham C A., Kirk C W., Nevin N C., et al. Lack of association between myelin basic protein gene microsatellite and multiple sclerosis. Lancet 1993; 341: 1596
  • Lucassen A M., Julier C, Beressi J P., et al. Susceptibility to insulin‐dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nature Genet 1993; 4: 305–10
  • Hammond K M., Dobrinski B, Lurz R, et al. The human insulin gene linked polymorphic region exhibits an altered DNA structure. Nucleic Acids Res 1992; 20: 231–6
  • Bureau J F., Montagutelli X, Bihl F, et al. Mapping loci influencing the persistence of Theiler's virus in the murine central nervous system. Nature Genet 1993; 5: 87–91
  • Bureau J F., Montagutelli Lefebre S, et al. The interaction of two groups of murine genes controls the persistence of Theiler's virus in the central nervous system. J Virol 1992; 66: 4698–704
  • Melvold R W., Jokinen D M., Miller S D., et al. Identification of a locus on mouse chromosome 3 involved in differential susceptibility to Theiler's murine encephalomyelitis virus induced demyelinating disease. J Virol 1990; 64: 686–90
  • Melvold R W., Jokinen D M., Knobler R L., Lipton H L. Variations in genetic control of susceptibility to Theire's murine encephalomyelitis virus (TMEV)‐induced demyelinating disease I. Differences between susceptible SJL/J and resistant BALB/c strains map near the T cell β‐chain constant gene on chromosome 6. J Immunol 1987; 138: 1429–33
  • Roach A, Takahashi N, Pravtcheva D, et al. Chromosomal mapping of mouse myelin basic protein gene and structure and transcription of the partially deleted gene in shiverer mutant mice. Cell 1985; 42: 149–55
  • Goverman J, Woods A, Larson L, et al. Transgenic mice that express a myelin basic protein‐specific T cell receptor develop spontaneous autoimmunity. Cell 1993; 72: 551–60
  • 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: 7113–7
  • Natowicz M R., Beijami B. Genetic disorders that masquerade as multiple sclerosis. Am J Med Genet 1994; 49: 149–69
  • Greenberg D A. Linkage analysis of 'necessary' disease loci versus 'susceptibility' loci. Am J Hum Genet 1993; 52: 135–43
  • Spielman R S., McGinnis R E., Ewens W J. Transmission test for linkage disequilibrium: the insulin gene region and insulin‐dependent diabetes mellitus (IDDM). Am J Hum Genef 1993; 52: 506–16
  • Schork N J., Boehmeke M, Terwilliger J D., Ott J. Two trait locus linkage analysis: a powerful strategy for mapping complex genetic traits. Am J Hum Genet 1993; 53: 1127–36
  • Tienari P J., Terwilliger J D., Ott J, Palo J, Peltonen L. Two‐locus linkage analysis in multiple sclerosis (MS). Genomics 1994; 19: 320–5
  • Joshi N, Usuku K, Hauser S L. The T‐cell response to myelin basic protein in familial multiple sclerosis: diversity of the fine specificity, restricting elements, and T‐cell receptor usage. Ann Neurol 1993; 34: 385–93
  • Martin R, Voskuhl R, Flerlage M, McFarlin D E., McFarland H F. Myelin basic protein‐specific T‐cell responses in identical twins discordant or concordant for multiple sclerosis. Ann Neurol 1993; 34: 524–35
  • Mullan M, Crawford F. Genetic and molecular advances in Alzheimer's disease. Trends Neurosci 1993; 16: 398–403

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.