Genetic susceptibility to multiple sclerosis: implications of genetic research on MS therapy

REFERENCE

• Johnson RT. The virology of demyelinating diseases. Ann. Neural. 36(Suppl.), S54-60 (1994).
   Google Scholar
• Sadovnick AD, Baird PA, Ward RII. Multiple sclerosis: updated risks for relatives. Am J. Merl Genet. 29(3), 533–541 (1988).
   Google Scholar
• Robertson N, Compston A. Surveying multiple sclerosis in the United Kingdom.j Neural Neurasutg Psychiatry58(1), 2–6 (1995).
   Google Scholar
• Ebers GC, Bulman DE, Sadovnick AD et al A population-based study of multiple sclerosis in twins. N Engl. I Merl 315(26), 1638–1642 (1986).
   Google Scholar
• Sadovnick AD, Armstrong H, Rice GP et al A population-based study of multiple sclerosis in twins: update. Ann. Neural. 33(3), 281–285 (1993).
   PubMed Web of Science ®Google Scholar
• Mumford CJ, Wood NW, Kellar-Wood H, Thorpe JW, Miller DH, Compston DA. The British Isles survey of multiple sclerosis in twins. Neurology44(1), 11–15 (1994).
   PubMed Web of Science ®Google Scholar
• Masterman T, Ligers A, Olsson T, Andersson M, Olerup 0, Hillert J. HLA-DR15 is associated with lower age at onset in multiple sclerosis. Ann. Neural. 48(2), 211–219 (2000).
   Google Scholar
• Celius EG, Harbo HF, Egeland T, Vandal F, Vandvik B, Spurkiand A. Sex and age at diagnosis are correlated with the HLA-DR2, DQ6 haplotype in multiple sclerosis. J. Neural. Sc]. 178(2), 132–135 (2000).
   Google Scholar
• Hauser SL, Oksenberg JR, Lincoln R etal Interaction between HLA-DR2 and abnormal brain MRI in optic neuritis and early MS. Optic Neuritis Study Group. Neurology54(9), 1859–1861 (2000).
   Google Scholar
• Barcellos LF, Oksenberg JR, Green AJ etal Genetic basis for clinical expression in multiple sclerosis. Brain 125(Pt 1), 150–158 (2002).
   PubMedGoogle Scholar
• Rosati G. The prevalence of multiple sclerosis in the world: an update. Neural. Sc]. 22(2), 117–139 (2001).
   PubMed Web of Science ®Google Scholar
• •Reviews the worldwide prevalence of MS in detail.
   Google Scholar
• Butterfield RJ, Blankenhorn EP, Roper RJ, Zachary JF, Doerge RVV, Teuscher C. Identification of genetic loci controlling the characteristics and severity of brain and spinal cord lesions in experimental allergic encephalomyelitis. Am. J. Pathol 157(2), 637–645 (2000).
   Google Scholar
• Sawcer S, Jones FIB, Feakes R eta]. A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat. Genet. 13(4), 464–468 (1996).
   Google Scholar
• Ebers GC, Kukay K, Bulman DE etal A full genome search in multiple sclerosis. Nat. Genet. 13(4), 472–476 (1996).
   Google Scholar
• Kuokkanen S, Gschwend M, Rioux JD et al Genomewide scan of multiple sclerosis in Finnish multiplex families. Am. Hum. Genet. 61(6), 1379–1387 (1997).
   Google Scholar
• Kira J, Kanai T, Nishimura Y etal Western versus Asian types of multiple sclerosis: immunogenetically and clinically distinct disorders. Ann. Neural. 40(4), 569–574 (1996).
   Google Scholar
• Fukazawa T, Yamasaki K, Ito H etal Both the HLA-CPB1 and -DRB1 alleles correlate with risk for multiple sclerosis in Japanese: clinical phenotypes and gender as important factors. Tissue Antigens 55(3), 199–205 (2000).
   Google Scholar
• Haines JL, Ter-Minassian M, Bazyk A et al. A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. Nat. Genet. 13(4), 469–471 (1996).
   Google Scholar
• D'Alfonso S, Nistico L, Zavattari P et al. Linkage analysis of multiple sclerosis with candidate region markers in Sardinian and Continental Italian families. Eur. Hum. Genet. 7 (3), 377–385 (1999).
   Google Scholar
• Oturai A, Larsen F, Ryder LP etal Linkage and association analysis of susceptibility regions on chromosomes 5 and 6 in 106 Scandinavian sibling pair families with multiple sclerosis. Ann. Neural. 46(4), 612–616 (1999).
   Google Scholar
• Xu C, Dai Y, Fredrikson S, Hillert J. Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr-15. Eur. Hum. Genet. 7(2), 110–116 (1999).
   Google Scholar
• Broadley S, Sawcer S, D'Alfonso S eta]. A genome screen for multiple sclerosis in Italian families. Genes Imutun. 2(4), 205–210 (2001).
   Google Scholar
• Dai Y, Xu C, Holmberg M eta]. Linkage analysis suggests a region of importance for multiple sclerosis in 3p14-13. Genes Immun. 2(8), 451–454 (2001).
   Google Scholar
• Kuokkanen S, Sundvall M, Terwilliger JD eta]. A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat. Genet. 13(4), 477–480 (1996).
   Google Scholar
• Bright JJ, Topham DJ, Nag B, Lodge PA, Sriram S. Vaccination with peptides from MHC class II beta chain hypervariable region causes allele-specific suppression of EAE. Neuroimmuna 67(2), 119–124 (1996).
   Google Scholar
• Hillert J, Olerup 0. Multiple sclerosis is associated with genes within or close to the HLA-DR-DQ subregion on a normal DR15,DQ6,Dw2 haplotype. Neurology 43(1), 163–168 (1993).
   Google Scholar
• Hauser SL, Fleischnick E, Weiner HL etal Extended major histocompatibility complex haplotypes in patients with multiple sclerosis. Neurology 39(2 Pt 1), 275–277 (1989).
   Google Scholar
• Kwon 0J, Karni A, Israel S et al. HLA class II susceptibility to multiple sclerosis among Ashkenazi and non-Ashkenazi Jews. Arch. Neural 56(5), 555–560 (1999).
   Google Scholar
• Alvarado-de la Barrera C, Zuniga-Ramos J, Ruiz-Morales JA, Estanol B, Granados J, Llorente L. HLA class II genotypes in Mexican Mestizos with familial and nonfamilial multiple sclerosis. Neurology 55(12), 1897–1900 (2000).
   Google Scholar
• Coraddu F, Reyes-Yanez MP, Parra A etal HLA associations with multiple sclerosis in the Canary Islands. J. Neuroimmunol 87(1-2), 130–135 (1998).
   Google Scholar
• Saruhan-Direskeneli G, Esin S, Baykan-Kurt B, Omek I, Vaughan R, Eraksoy M. HLA-DR and -DQ associations with multiple sclerosis in Turkey. Hum. Immunol 55(1), 59–65 (1997).
   Google Scholar
• Marrosu MG, Murru MR, Costa G, Murru R, Muntoni F, Cucca F. DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. Hum. Mal Genet. 7(8), 1235–1237 (1998).
   Google Scholar
• Marrosu MG, Murru R, Murru MR etal. Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia. Hum. Mal Genet. 10(25), 2907–2916 (2001).
   Google Scholar
• Beall SS, Concannon P, Charmley P etal The germline repertoire of T-cell receptor 13 chain genes in patients with chronic progressive multiple sclerosis. J. Neuroimmunol 21(1), 59–66 (1989).
   Google Scholar
• Wei S, Charmley F Birchfield RI, Concannon P Human T-cell receptor V13 gene polymorphism and multiple sclerosis. Am Hum. Genet. 56(4), 963–969 (1995).
   Google Scholar
• Hockertz MK, Paty DW, Beall SS. Susceptibility to relapsing-progressive multiple sclerosis is associated with inheritance of genes linked to the variable region of the TcR l locus: use of affected family-based controls. Am. J. Hum. Genet. 62(2), 373–385 (1998).
   Google Scholar
• Sundvall M, Jirholt J, Yang HT etal Identification of murine loci associated with susceptibility to chronic experimental autoimmune encephalomyelitis. Nat. Genet. 10(3), 313–317 (1995).
   Google Scholar
• Dai KZ, Harbo HF, Celius EG etal The T-cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis. Genes. Immun. 2(5), 263–268 (2001).
   Google Scholar
• Tienari PJ, Kuokkanen S, Pastinen T etal Golli-MBP gene in multiple sclerosis susceptibility. I Neuroimutunol. 81 (1-2), 158–167 (1998).
   Google Scholar
• Guerini FR, Losciale L, Mediati M et al A polymorphism in the repetitive (TGGA)n sequence 5' to the human myelin basic protein gene in Italian multiple sclerosis patients. I Neurovirol 6\(Suppl. 2), S28-32 (2000).
   Google Scholar
• He B, Xu C, Yang B, Landtblom AM, Fredrikson S, Hillert J. Linkage and association analysis of genes encoding cytokines and myelin proteins in multiple sclerosis. J. Neuroimutunol. 86(1), 13–19 (1998).
   Google Scholar
• Ligers A, Xu C, Saarinen S, Hillert J, Olerup 0. The CTLA-4 gene is associated with multiple sclerosis. J. Neuroimmunol 97(1–2), 182–190 (1999).
   Google Scholar
• Harbo HF, Celius EG, Vartdal F, Spurkland A. CTLA4 promoter and exon 1 dimorphisms in multiple sclerosis. Tissue Antigens53(1), 106–110 (1999).
   Google Scholar
• Fukazawa T, Yanagawa T, Kikuchi S etal CTLA-4 gene polymorphism may modulate disease in Japanese multiple sclerosis patients. Neural Sc]. 171(1), 49–55 (1999).
   Google Scholar
• Weinshenker BG, Hebrink DD, Klein C, Atkinson EJ, O'Brien PC, McMurray CT Genetic variation in the B7-1 gene in patients with multiple sclerosis. J. Neumituutunol 105(2), 184–188 (2000).
   Google Scholar
• Sciacca FL, Ferri C, Vandenbroeck K eta]. Relevance of interleukin-1 receptor antagonist intron 2 polymorphism in Italian MS patients. Neurology52 (9), 1896–1898 (1999).
   Google Scholar
• De La Concha EG, Arroyo R, Crusius JB eta]. Combined effect of HLA-DRB1*1501 and interleukin-1 receptor antagonist gene allele 2 in susceptibility to relapsing/remitting multiple sclerosis. J. Neumituutunol 80(1–2), 172–178 (1997).
   Google Scholar
• Crusius JB, Pena AS, Van Oosten BW eta]. Interleukin-1 receptor antagonist gene polymorphism and multiple sclerosis. Lancet 346(8980), 979 (1995).
   Google Scholar
• Huang WX, He B, Hillert J. An interleukin-1-receptor-antagonist gene polymorphism is not associated with multiple sclerosis. J. Neuroimutunol. 67(2), 143–144 (1996).
   Google Scholar
• Semana G, Yaouanq J, Alizadeh M, Clanet M, Edan G. Interleukin-1 receptor antagonist gene in multiple sclerosis. Lancet 349(9050), 476 (1997).
   Google Scholar
• Kantarci OH, Atkinson EJ, Hebrink DD, McMurray CT, Weinshenker BG. Association of two variants in IL-113 and IL-1 receptor antagonist genes with multiple sclerosis. J. Neuroimmunol 106(1–2), 220–227 (2000).
   Google Scholar
• Niino M, Kikuchi S, Fukazawa T, Yabe I, Sasaki H, Tashiro K. Genetic polymorphisms of IL-113 and IL-1 receptor antagonist in association with multiple sclerosis in Japanese patients. Neumumnunol. 118(2), 295–299 (2001).
   Google Scholar
• Hackstein H, Bitsch A, Bohnert A etal Analysis of interleukin-4 receptor a chain variants in multiple sclerosis. J. Neumituutunol 113(2), 240–248 (2001).
   Google Scholar
• McDonnell GV, Kirk CW, Hawkins SA, Graham CA. An evaluation of interleukin genes fails to identify clear susceptibility loci for multiple sclerosis. J. Neuml. Sc]. 176(1), 4–12 (2000).
   Google Scholar
• Vandenbroeck K, Opdenakker G, Goris A, Murru R, Billiau A, Marrosu MG. Interferon y gene polymorphism-associated risk for multiple sclerosis in Sardinia. Ann. Neural. 44(5), 841–842 (1998).
   Google Scholar
• Dai Y, Masterman T, Huang WX et a/. Analysis of an interferon y gene dinucleotide-repeat polymorphism in Nordic multiple sclerosis patients. Mult. Scler. 7(3), 157–163 (2001).
   Google Scholar
• Femandez-Arquero M, Arroyo R, Rubio A et al Primary association of a TNF gene polymorphism with susceptibility to multiple sclerosis. Neurology53(6), 1361–1363 (1999).
   Google Scholar
• Weinshenker BG, Hebrink DD, Atkinson E, Kantarci OH. Association of a tumor necrosis factor alpha polymorphism with MS susceptibility. Neurology57(7), 1341–1342 (2001).
   Google Scholar
• Wingerchuk D, 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 49 (2), 626–628 (1997).
   Google Scholar
• Maurer M, Kruse N, Giess R, Kyriallis K, Toyka KV, Rieckmann P Gene polymorphism at position -308 of the tumor necrosis factor a promoter is not associated with disease progression in multiple sclerosis patients. J. Nemo'. 246(10), 949–954 (1999).
   Google Scholar
• Roth MP, Nogueira L, Coppin H, Clanet M, Clayton J, Cambon-Thomsen A. Tumor necrosis factor polymorphism in multiple sclerosis: no additional association independent of HLA. I Neuroimmunol 51(1), 93–99 (1994).
   Google Scholar
• Bennetts BH, Teutsch SM, Buhler MM, Heard RN, Stewart GJ. The CCR5 deletion mutation fails to protect against multiple sclerosis. Hum. Immunol 58(1), 52–59 (1997).
   Google Scholar
• Barcellos LF, Schito AM, Rimmler JB et al CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis. Immunogenetic551 (4–5), 281–288 (2000).
   Google Scholar
• Myhr KM, Raknes G, Nyland H, Vedeler C. Immunoglobulin G Pc-receptor (FcyR) IIA and IIIB polymorphisms related to disability in MS. Neurology52 (9), 1771–1776 (1999).
   Google Scholar
• Vedeler CA, Myhr KM, Nyland H. Fc receptors for immunoglobulin G-a role in the pathogenesis of Guillain-Barré syndrome and multiple sclerosis. J. Neuroimmunol 118(2), 187–193 (2001).
   Google Scholar
• Mycko MP, Kwinkowski M, Tronczynska E, Szymanska B, Selmaj KW Multiple sclerosis: the increased frequency of the ICAM-1 exon 6 gene point mutation genetic type K469. Ann. Neural. 44(1), 70–75 (1998).
   Google Scholar
• Marrosu MG, Schirru L, Fadda E etal ICAM-1 gene is not associated with multiple sclerosis in sardinian patients. Neural. 247(9), 677–680 (2000).
   Google Scholar
• Cosman F, Nieves J, Komar L etal Fracture history and bone loss in patients with MS. Neurology51 (4), 1161–1165 (1998).
   PubMed Web of Science ®Google Scholar
• Fukazawa T, Yabe I, Kikuchi S etal Association of vitamin D receptor gene polymorphism with multiple sclerosis in Japanese. J. Neural. Sc]. 166(1), 47–52 (1999).
   Google Scholar
• Niino M, Fukazawa T, Yabe I, Kikuchi S, Sasaki H, Tashiro K. Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles. J. Neural. Sc]. 177(1), 65–71 (2000).
   Google Scholar
• Stecldey JL, Dyment DA, Sadovnick AD, Risch N, Hayes C, Ebers GC. Genetic analysis of vitamin D related genes in Canadian multiple sclerosis patients. Neurology 54 (3), 729–732 (2000) .
   Google Scholar
• Kim S, Liva SM, Dalal MA, Verity MA, Voskuhl RR. Estriol ameliorates autoimmune demyelinating disease: implications for multiple sclerosis. Neurology52(6), 1230–1238 (1999).
   PubMed Web of Science ®Google Scholar
• Niino M, Kikuchi S, Fukazawa T, Yabe I, Tashiro K. Estrogen receptor gene polymorphism in Japanese patients with multiple sclerosis. J. Neural. Sc]. 179(S 1–2), 70–75 (2000).
   Google Scholar
• Salvetti M, Buttinelli C, Ristori G et al. T-lymphocyte reactivity to the recombinant mycobacterial 65- and 70-kDa heat shock proteins in multiple sclerosis. J. Autoimmun. 5 (6), 691–702 (1992).
   Google Scholar
• Ramachandran S, Bell RB. Heat shock protein 70 gene polymorphisms and multiple sclerosis. Tissue Antigens 46 (2), 140–141 (1995).
   Google Scholar
• Cascino I, Galeazzi M, Salveth M eta]. HSP70-1 promoter region polymorphism tested in three autoimmune diseases. Immunogenetic539(4), 291–293 (1994).
   Google Scholar
• Niino M, Kikuchi S, Fukazawa T, Yabe I, Sasaki H, Tashiro K. Heat shock protein 70 gene polymorphism in Japanese patients with multiple sclerosis. Tissue Antigens 58(2), 93–96 (2001).
   Google Scholar
• Gervais A, Gaillard 0, Plassart E, Reboul J, Fontaine B, Schuller E. Apolipoprotein E polymorphism in multiple sclerosis. Ann. Clin. Biochem. 35 (Pt 1), 135–136 (1998).
   Google Scholar
• Weatherby SJ, Mann CL, Davies MB et al Polymorphisms of apolipoprotein E; utcome and susceptibility in multiple sclerosis. Mutt. Scler 6(1), 32–36 (2000).
   Google Scholar
• Weatherby SJ, Mann CL, Fryer AA eta]. No association between the APOE epsilon4 allele and outcome and susceptibility in primary progressive multiple sclerosis. J. Neurol Neumsurg Bychtry 68(4), 532 (2000).
   Google Scholar
• HOgh P, Oturai A, Schreiber K et al Apoliprotein E and multiple sclerosis: impact of the epsilon-4 allele on susceptibility, clinical type and progression rate. Mutt. Scler. 6(4), 226–230 (2000).
   Google Scholar
• Chapman J, Vinokurov S, Achiron A etal APOE genotype is a major predictor of long-term progression of disability in MS. Neurology56(3), 312–316 (2001).
   PubMed Web of Science ®Google Scholar
• Fazekas F, Strasser-Fuchs S, Kollegger H etal Apolipoprotein E epsilon 4 is associated with rapid progression of multiple sclerosis. Neurology 57(5), 853–857 (2001).
   Google Scholar
• Huang QR, Teutsch SM, Buhler MM eta]. Evaluation of the apo-1/Fas promoter Mva I polymorphism in multiple sclerosis. Mutt. Scler. 6(1), 14–18 (2000).
   Google Scholar
• Zayas MD, Lucas M, Solano F, Fernandez-Perez MJ, Izquierdo G. Association of a CA repeat polymorphism upstream of the Fos ligand gene with multiple sclerosis. J. Neuroimmunol 116(2), 238–241 (2001).
   Google Scholar
• Mann CL, Davies MB, Boggild MD etal. Glutathione 5-transferase polymorphisms in MS: their relationship to disability. Neurology54(3), 552–557 (2000).
   Google Scholar
• Harding AE, Sweeney MG, Miller DH etal Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115 (Pt 4), 979–989 (1992).
   Google Scholar
• Kellar-Wood H, Robertson N, Govan GG, Compston DA, Harding AE. Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann. Neural. 36(1), 109–112 (1994).
   Google Scholar
• 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. Neurology45 (7), 1333–1334 (1995).
   Google Scholar
• Cock H, Mandler R, Ahmed W Schapira AH. Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy. j Neural Neurasztrg. Psychiatry62(1), 85–87 (1997).
   Google Scholar
• Leuzzi V, Carducci C, Lenza M eta]. LHON mutations in Italian patients affected by multiple sclerosis. Acta. Neural. Scam/. 96(3), 145–148 (1997).
   Google Scholar
• Stinissen P, Raus J. Autoreactive T-lymphocytes in multiple sclerosis: pathogenic role and therapeutic targeting. Acta. Neural. Belg. 99(1), 65–69 (1999).
   Google Scholar
• The IFN-P Multiple Sclerosis Study Group. Interferon beta-lb is effective in relapsing-remitting multiple sclerosis. I. Clinical esults of a multicenter, randomized, double-blind, placebo-controlled trial. Neurology 43 (4), 655–661 (1993) .
   Google Scholar
• Jacobs LD, Cookfair DL, Rudick RA et al Intramuscular interferon beta-la for disease progression in relapsing multiple sclerosis. Ann. Neural. 39(3), 285–294 (1996).
   PubMed Web of Science ®Google Scholar
• Johnson IQ, Brooks BR, Cohen JA etal Co-polymer 1 reduces relapse rate and improves disability in relapsing-remitting multiple sclerosis: results of a Phase III multicenter, double-blind placebo-controlled trial. Neurology45 (7), 1268–1276 (1995).
   Google Scholar
• Ingelman-Sundberg M. Pharmacogenetics: an opportunity for a safer and more efficient pharmacotherapy. j Intern. Merl 250(3), 186–200 (2001).
   Google Scholar
• •Reviews how polymorphic genes can influence drug efficacy.
   Google Scholar
• Evans WE, Relling MV. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286(5439), 487–491 (1999).
   PubMed Web of Science ®Google Scholar
• Evans WE, Johnson JA. Pharmacogenomics: the inherited basis for interindividual differences in drug response. Ann. Rev. Genomics Hum. Genet. 2,9–39 (2001).
   PubMed Web of Science ®Google Scholar
• Oksenberg JR, Baranzini SE, Barcellos LF, Hauser SL. Multiple sclerosis: genomic rewards. Neuroimmund 113(2), 171–184 (2001).
   Google Scholar