The genetics of multiple sclerosis

Results and Problems in Cell Differentiation

Volumn 51, Issue , 2010, Pages 1-19

  Hillert, Jan ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

HLA ANTIGEN; INTERLEUKIN 7 RECEPTOR;

ARTICLE; AUTOIMMUNE DISEASE; CHROMOSOME MAP; FEMALE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENETICS; HUMAN; IMMUNOLOGY; MALE; MULTIPLE SCLEROSIS;

AUTOIMMUNE DISEASES; CHROMOSOME MAPPING; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HLA ANTIGENS; HUMANS; MALE; MULTIPLE SCLEROSIS; RECEPTORS, INTERLEUKIN-7;

EID: 77956938373     PISSN: 00801844     EISSN: 18610412     Source Type: Book Series    
DOI: 10.1007/400_2009_13     Document Type: Article

References (70)

1. Alves-Leon SV, Papais-Alvarenga R, Magalhães M, Alvarenga M, Thuler LC, Fernández y Fernandez O (2007) Ethnicity-dependent association of HLA DRB1-DQA1-DQB1 alleles in Brazilian multiple sclerosis patients. Acta Neurol Scand 115(5):306-311 PMID: 17489940
2. Aulchenko YS, Hoppenbrouwers IA, Ramagopalan SV, Broer L, Jafari N, Hillert J, Link J, Lundström W, Greiner E, Dessa Sadovnick A, Goossens D, Broeckhoven CV, Del-Favero J, Ebers GC, Oostra BA, van Duijn CM, Hintzen RQ (2008) Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet 40(12):1402-1403
3. Baranzini SE, Wang J, Gibson RA, Galwey N, Naegelin Y, Barkhof F, Radue EW, Lindberg RL, Uitdehaag BM, Johnson MR, Angelakopoulou A, Hall L, Richardson JC, Prinjha RK, Gass A, Geurts JJ, Kragt J, Sombekke M, Vrenken H, Qualley P, Lincoln RR, Gomez R, Caillier SJ, George MF, Mousavi H, Guerrero R, Okuda DT, Cree BA, Green AJ, Waubant E, Goodin DS, Pelletier D, Matthews PM, Hauser SL, Kappos L, Polman CH, Oksenberg JR (2009) Genomewide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum Mol Genet 18(4):767-778 Epub 2008. PMID: 19010793
4. Barcellos LF, Sawcer S, Ramsay PP, Baranzini SE, Thomson G, Briggs F, Cree BC, Begovich AB, Villoslada P, Montalban X, et al (2006a) Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet 15:2813-2824
5. Barcellos LF, Kamdar BB, Ramsay PP, DeLoa C, Lincoln RR, Caillier S, Schmidt S, Haines JL, Pericak-Vance MA, Oksenberg JR, Hauser SL (2006b) Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study. Lancet Neurol 5(11):924-931
6. Booth DR, Arthur AT, Teutsch SM, Bye C, Rubio J, Armati PJ, Pollard JD, Heard RN, Stewart GJ (2005) Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis. J Mol Med 83:822-830
7. Booth DR, Heard RN, Stewart GJ, Goris A, Dobosi R, Dubois B, Lorentzen AR, Celius EG, Harbo HF, Spurkland A, Olsson T, Kockum I, Link J, Hillert J, Ban M, Baker A, Sawcer S, Compston A, Mihalova T, Strange R, Hawkins C, Ingram G, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, Pericak-Vance M, Oksenberg JR, Hauser SL, McCauley JL, Sexton D, Haines J (2009) The expanding genetic overlap between multiple sclerosis and type I diabetes. Genes Immun 10(1):11-14
8. Brassat D, Azais-Vuillemin C, Yaouanq J, Semana G, Reboul J, Cournu I, Mertens C, Edan G, Lyon-Caen O, Clanet M, Fontaine B (1999) Familial factors influence disability in MS multiplex families. French Multiple Sclerosis Genetics Group. Neurology 52(8): 1632-1636
9. Brynedal B, Duvefelt K, Jonasdottir G, Roos IM, Akesson E, Palmgren J, Hillert J (2007) HLA-A confers an HLA-DRB1 independent influence on the risk of multiple sclerosis. PLoS ONE 2(7):e664
10. Chao MJ, Barnardo MCNM, Lincoln MR, Ramagopalan SV, Herrera BM, Dyment DA, Montpetit A, Sadovnick AD, Knight JC, Ebers GC (2008) HLA class I alleles tag HLA-DRB1*1501 haplotypes for differential risk in multiple sclerosis susceptibility. Proc Natl Acad Sci U S A 105(35):13069-13074
11. Chataway J, Mander A, Robertson N, Sawcer S, Deans J, Fraser M, Broadley S, Clayton D, Compston A (2001) Multiple sclerosis in sibling pairs: an analysis of 250 families. J Neurol Neurosurg Psychiatry 71(6):757-761
12. De Jager PL, Baecher-Allan C, Maier LM, Arthur AT, Ottoboni L, Barcellos L, McCauley JL, Sawcer S, Goris A, Saarela J, Yelensky R, Price A, Leppa V, Patterson N, de Bakker PI, Tran D, Aubin C, Pobywajlo S, Rossin E, Hu X, Ashley CW, Choy E, Rioux JD, Pericak-Vance MA, Ivinson A, Booth DR, Stewart GJ, Palotie A, Peltonen L, Dubois B, Haines JL, Weiner HL, Compston A, Hauser SL, Daly MJ, Reich D, Oksenberg JR, Hafler DA (2009) The role of the CD58 locus in multiple sclerosis. Proc Natl Acad Sci U S A 106(13):5264-5269
13. DeLuca GC, Ramagopalan SV, Herrera BM, Dyment DA, Lincoln MR, Montpetit A, Pugliatti M, Barnardo MC, Risch NJ, Sadovnick AD, Chao M, Sotgiu S, Hudson TJ, Ebers GC (2007) An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus. Proc Natl Acad Sci U S A 104:20896-20901
14. Dyment DA, Herrera BM, Cader MZ, Willer CJ, Lincoln MR, et al (2005) Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance. Hum Mol Genet 14:2019-2026
15. Ebers GC et al (1986) A population-based study of multiple sclerosis in twins. N Engl J Med 315(26):1638-1642
16. Ebers GC, Sadovnick AD, Risch NJ (1995) A genetic basis for familial aggregation in multiple sclerosis. Canadian Collaborative Study Group. Nature 377(6545):150-151
17. Ebers GC et al (1996) A full genome search in multiple sclerosis. Nat Genet 13(4):472-476
18. Ebers GC et al (2000) Conjugal multiple sclerosis: population-based prevalence and recurrence risks in offspring. Canadian Collaborative Study Group. Ann Neurol 48(6):927-931
19. Fogdell A, Hillert J, Sachs C, Olerup O (1995) HLA-DRB5 alleles in multiple sclerosis and narcolepsy. Tissue Antigens 46:333-336
20. Fogdell-Hahn A, Ligers A, Gronning M, Hillert J, Olerup O (2000) Multiple sclerosis: a modifying influence of HLA class I genes in an HLA class II associated autoimmune disease. Tissue Antigens 55:140-148
21. Friese MA, Jakobsen KB, Friis L, Etzensperger R, Craner MJ, McMahon RM, Jensen LT, Huygelen V, Jones EY, Bell JI, Fugger L (2008) Opposing effects of HLA class I molecules in tuning autoreactive CD8+ T cells in multiple sclerosis. Nat Med 14(11):1227-1235
22. Gregersen JW, Kranc KR, Ke X, Svendsen P, Madsen LS, Thomsen AR, Cardon LR, Bell JI, Fugger L (2006) Functional epistasis on a common MHC haplotype associated with multiple sclerosis. Nature 443:574-577
23. Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, Caillier SJ, Ban M, Goris A, Barcellos LF, et al (2007) Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet 39:1083-1091
24. Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, et al (2007) Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 357:851-862
25. Hafler JP, Maier LM, Cooper JD, Plagnol V, Hinks A, Simmonds MJ, Stevens HE, Walker NM, Healy B, Howson JM, Maisuria M, Duley S, Coleman G, Gough SC, International Multiple Sclerosis Genetics Consortium (IMSGC), Worthington J, Kuchroo VK, Wicker LS, Todd JA (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes Immun 10(1):5-10 PMID: 18971939
26. Haines JL et al (1996) A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet 13(4):469-471
27. Harbo HF, Lie BA, Sawcer S, Celius EG, Dai KZ, Oturai A, Hillert J, Lorentzen AR, Laaksonen M, Myhr KM, et al (2004) Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis. Tissue Antigens 63:237-247
28. He YW, Malek TR (1996) Interleukin-7 receptor alpha is essential for the development of gamma delta+ T cells, but not natural killer cells. J Exp Med 184(1):289-293
29. Hemminki K, Li X, Sundquist J, Hillert J, Sundquist K (2009) Risk for multiple sclerosis in relatives and spouses of patients diagnosed with autoimmune and related conditions. Neurogenetics 10(1):5-11
30. Hensiek AE, Seaman SR, Barcellos LF, Oturai A, Eraksoi M, Cocco E, Vecsei L, Stewart G, Dubois B, Bellman-Strobl J, Leone M, Andersen O, Bencsik K, Booth D, Celius EG, Harbo HF, Hauser SL, Heard R, Hillert J, Myhr KM, Marrosu MG, Oksenberg JR, Rajda C, Sawcer SJ, Sørensen PS, Zipp F, Compston DA (2007) Familial effects on the clinical course of multiple sclerosis. Neurology 68(5):376-383
31. Hillert J (1994) Human leukocyte antigen studies in multiple sclerosis. Ann Neurol 36(Suppl): S15-S17
32. Hoppenbrouwers IA, Aulchenko YS, Ebers GC, Ramagopalan SV, Oostra BA, et al (2008) EVI5 is a risk gene for multiple sclerosis. Genes Immun 9:334-337
33. Howson JMM, Walker NM, Clayton D, Todd JA, The Type 1 Diabetes Genetics Consortium (2009) Confirmation of HLA class II independent type 1 diabetes associations in the major histocompatibility complex including HLA-B and HLA-A. Diabetes Obes Metab 11(Suppl 1):31-45
34. International Multiple Sclerosis Genetics Consortium (IMSGC) (2009) The expanding genetic overlap between multiple sclerosis and type I diabete. Genes Immun 10:11-14
35. Jersild C, Fog T (1972) Histocompatibility (HL-A) antigens associated with multiple sclerosis. Acta Neurol Scand Suppl 51:377
36. Jersild C, Fog T, Hansen GS, Thomsen M, Svejgaard A, et al (1973) Histocompatibility determinants in multiple sclerosis, with special reference to clinical course. Lancet 2:1221-1225
37. 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(1):109-112
38. Kuokkanen S et al (1997) Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet 61(6):1379-1387
39. Lai SY, Molden J, Goldsmith MA (1997) Shared gamma(c) subunit within the human interleukin-7 receptor complex. A molecular basis for the pathogenesis of X-linked severe combined immunodeficiency. J Clin Invest 99(2):169-177
40. Lennon VA, Wingerchuk DM, Kryzer TJ, Pittock SJ, Lucchinetti CF, Fujihara K, Nakashima I, Weinshenker BG (2004) A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 364(9451):2106-2112 Link J, Lorentzen AR, Kockum I, Duvefelt K, Mero I-L, Celius EG, Harbo HF, Hillert J, Brynedal B (submitted) HLA class I genes in multiple sclerosis - two independent risk factors mapping to HLA-A and HLA-C
41. Lucchinetti C et al (2000) Heterogeneity of multiple sclerosis lesions: implications for the pathogenesis of demyelination. Ann Neurol 47(6):707-717
42. Lundmark F, Duvefelt K, Iacobaeus E, Kockum I, Wallstrom E, Khademi M, Oturai A, Ryder LP, Saarela J, Harbo HF, et al (2007) Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nat Genet 39:1108-1113
43. Lundström W, Greiner E, Lundmark F, Harbo HF, Lorentzen Å, Masterman T, Hillert J (submitted) Effects of non-HLA susceptibility genes on disease progress in Multiple Sclerosis Maier LM, Lowe CE, Cooper J, Downes K, Anderson DE, Severson C, Clark PM, Healy B, Walker N, Aubin C, Oksenberg JR, Hauser SL, Compston A, Sawcer S, International Multiple Sclerosis Genetics Consortium, De Jager PL, Wicker LS, Todd JA, Hafler DA (2009a) IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production. PLoS Genet 5(1):e1000322 PMID: 19119414
44. Maier LM, Anderson DE, Severson CA, Baecher-Allan C, Healy B, Liu DV, Wittrup KD, De Jager PL, Hafler DA (2009b) Soluble IL-2RA levels in multiple sclerosis subjects and the effect of soluble IL-2RA on immune responses. J Immunol 182(3):1541-1547 PMID: 19155502
45. Masterman T, Ligers A, Olerup O, Hillert J (2000) HLA-DRB1 alleles do not influence course or outcome in multiple sclerosis, but DR15 is associated with lower age of onset. Ann Neurol 48:211-219
46. Mazzucchelli R, Durum SK (2007) Interleukin-7 receptor expression: intelligent design. Nat Rev Immunol 7(2):144-154
47. Naito S, Namerow N, Mickey MR, Terasaki PI (1972) Multiple sclerosis: association with HL-A3. Tissue Antigens 2:1-4
48. Nejentsev S, Howson JMM, Walker NM, et al (2007) Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 450:887-892
49. Nielsen NM, Frisch M, Rostgaard K, Wohlfahrt J, Hjalgrim H, Koch-Henriksen N, Melbye M, Westergaard T (2008) Autoimmune diseases in patients with multiple sclerosis and their firstdegree relatives: a nationwide cohort study in Denmark. Mult Scler 14(9):1288-1289; author reply 1290-1291
50. Oksenberg JR, Barcellos LF, Cree BA, Baranzini SE, Bugawan TL, Khan O, Lincoln RR, Swerdlin A, Mignot E, Lin L, Goodin D, Erlich HA, Schmidt S, Thomson G, Reich DE, Pericak-Vance MA, Haines JL, Hauser SL (2004) Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet 74(1):160-167 PMID: 14669136
51. Olerup O, Hillert J, Fredrikson S, Olsson T, Kam-Hansen S, Möller E, Carlsson B, Wallin J (1989) Chronic progressive and relapsing/remitting multiple sclerosis - two distinct disease entities? Proc Natl Acad Sci U S A 86:7113-7117
52. Olerup O, Hillert J (1991) HLA class II-associated genetic susceptibility in multiple sclerosis: A critical evaluation. Tissue Antigens 38:1-15
53. Olsson T, Hillert J (2008) The genetics of multiple sclerosis and its experimental models. Curr Opin Neurol 21(3):255-260 Review. PMID: 18451707
54. Oturai AB, Ryder LP, Fredrikson S, Myhr KM, Celius EG, Harbo HF, Andersen O, Akesson E, Hillert J, Madsen HO, Nyland H, Spurkland A, Datta P, Svejgaard A, Sorensen PS (2004) Concordance for disease course and age of onset in Scandinavian multiple sclerosis coaffected sib pairs. Mult Scler 10(1):5-8
55. Ramagopalan SV, Dyment DA, Valdar W, Herrera BM, Criscuoli M, Yee IM, Sadovnick AD, Ebers GC, Canadian Collaborative Study Group (2007a) Autoimmune disease in families with multiple sclerosis: a population-based study. Lancet Neurol 6(7):604-610 PMID: 17560172
56. Ramagopalan SV, Anderson C, Sadovnick AD, Ebers GC (2007b) Genomewide study of multiple sclerosis. N Engl J Med 357(21):2199-2200 author reply 2200-2201 PMID: 18032773
57. Rubio JP, Stankovich J, Field J, Tubridy N, Marriott M, et al (2008) Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians. Genes Immun 9(7):624-630
58. Saarela J et al (2006) PRKCA and multiple sclerosis: association in two independent populations. PLoS Genet 2(3):e42
59. Sadovnick AD et al (1993) A population-based study of multiple sclerosis in twins: update. Ann Neurol 33(3):281-285
60. Sawcer S et al (1996) A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 13(4):464-468
61. Sawcer S, Maranian M, Setakis E, Curwen V, Akesson E, Hensiek A, Coraddu F, Roxburgh R, Sawcer D, Gray J, Deans J, Goodfellow PN, Walker N, Clayton D, Compston A (2002) A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions reviously linked to susceptibility. Brain 125(Pt 6):1337-1347 PMID: 12023322
62. Sawcer S, Ban M, Maranian M, Yeo TW, Compston A, Kirby A, Daly MJ, De Jager PL, Walsh E, Lander ES, et al (2005) A high-density screen for linkage in multiple sclerosis. Am J Hum Genet 77:454-467
63. Smestad C, Brynedal B, Jonasdottir G, Lorentzen AR, Masterman T, Akesson E, Spurkland A, Lie BA, Palmgren J, Celius EG, Hillert J, Harbo HF (2007) The impact of HLA-A and -DRB1 on age at onset, disease course and severity in Scandinavian multiple sclerosis patients. Eur J Neurol 14(8):835-840. PMID: 17662002
64. Sundvall M, Jirholt J, Yang HT, Jansson L, Engstrom A, Pettersson U, Holmdahl R (1995) Identification of murine loci associated with susceptibility to chronic experimental autoimmune encephalomyelitis. Nat Genet 10:313-317
65. Teutsch SM, Booth DR, Bennetts BH, Heard RN, Stewart GJ (2003) Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-alpha gene and their associations with multiple sclerosis. Eur J Hum Genet 11:509-515
66. Weber F, Fontaine B, Cournu-Rebeix I, Kroner A, Knop M, et al (2008) IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations. Genes Immun 9:259-263
67. Willer CJ et al (2003) Twin concordance and sibling recurrence rates in multiple sclerosis. Proc Natl Acad Sci U S A 100(22):12877-12882
68. WTCCC (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678
69. Yeo TW, De Jager PL, Gregory SG, Barcellos LF, Walton A, Goris A, Fenoglio C, Ban M, Taylor CJ, Goodman RS, et al (2007) A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann Neurol 61:228-236
70. Zhang Z, Duvefelt K, Svensson F, Masterman T, Jonasdottir G, Salter H, Emahazion T, Hellgren D, Falk G, Olsson T, et al (2005) Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis. Genes Immun 6:145-152