Risk conferring genes in multiple sclerosis

FEBS Letters

Volumn 585, Issue 23, 2011, Pages 3789-3797

  Nischwitz, S ^a   Muller Myhsok B ^a   Weber, F ^a  

^a MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

Author keywords

Genetics; Multiple sclerosis; Pharmacogenetics; Single nucleotide polymorphisms; Susceptibility

Indexed keywords

BETA INTERFERON; GLATIRAMER; INTERLEUKIN 2; INTERLEUKIN 7; NATALIZUMAB; NEUTRALIZING ANTIBODY; TUMOR NECROSIS FACTOR ALPHA;

BLOOD BRAIN BARRIER; C TYPE LECTIN DOMAIN FAMILY 16 MEMBER A GENE; CD4+ T LYMPHOCYTE; CD58 GENE; CD6 GENE; CD8+ T LYMPHOCYTE; DISEASE PREDISPOSITION; ENVIRONMENTAL FACTOR; GENE; GENE EXPRESSION PROFILING; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GLYPICAN PROTEOGLYCAN 5 GENE; HLA GENE; HLA TYPING; HUMAN; INTERFERON REGULATORY FACTOR 5 GENE; INTERFERON REGULATORY FACTOR 8 GENE; INTERLEUKIN 1 RECEPTOR GENE; INTERLEUKIN 7 RECEPTOR GENE; KINESIN FAMILY MEMBER 1B GENE; MULTIPLE SCLEROSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHARMACOGENETICS; PRIORITY JOURNAL; PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY; REGULATORY T LYMPHOCYTE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TH17 CELL; TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 1A GENE; TYROSINE KINASE 2 GENE; VAV1 GENE; VITAMIN D METABOLISM;

ANIMALS; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HUMANS; IMMUNE SYSTEM; MULTIPLE SCLEROSIS; RISK FACTORS; SIGNAL TRANSDUCTION;

EID: 81755162746     PISSN: 00145793     EISSN: 18733468     Source Type: Journal    
DOI: 10.1016/j.febslet.2011.03.037     Document Type: Review

References (120)

1. M. Pugliatti, G. Rosati, H. Carton, T. Riise, J. Drulovic, L. Vécsei, and I. Milanov The epidemiology of multiple sclerosis in Europe Eur. J. Neurol. 13 2006 700 722 (Pubitemid 44143944)
2. S.L. Hauser, and J.R. Oksenberg The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration Neuron 52 2006 61 76 (Pubitemid 44466355)
3. C. Confavreux, S. Vukusic, T. Moreau, and P. Adeleine Relapses and progression of disability in multiple sclerosis N. Engl. J. Med. 343 2000 1430 1438
4. G. Giovannoni, and G. Ebers Multiple sclerosis: the environment and causation Curr. Opin. Neurol. 20 2007 261 268 (Pubitemid 46743106)
5. A. Compston, and A. Coles Multiple sclerosis Lancet 372 2008 1502 1517
6. S. Naito, N. Namerow, M.R. Mickey, and P.I. Terasaki Multiple sclerosis: association with HL-A3 Tissue Antigens 2 1972 1 4
7. D.W. Paty, H. Mervart, B. Campling, C.G. Rand, and C.R. Stiller HL-A frequencies in patients with multiple sclerosis Can. J. Neurol. Sci. 1 1976 211 213
8. H.J. Bertrams, and E.K. Kuwert Association of histocompatibility haplotype HLA-A3-B7 with multiple sclerosis J. Immunol. 117 1976 1906 1912
9. P. de Moerloose, M. Jeannet, B. Martins-da-Silva, C. Werner-Favre, J. Rohr, and G. Gauthier Increased frequency of HLA-DRw2 and DRw3 in multiple sclerosis Tissue Antigens 13 1979 357 360 (Pubitemid 9210717)
10. O. Olerup, and J. Hillert HLA-D region associated genetic susceptibility to multiple sclerosis: A critical evaluation Tissue Antigens 38 1991 1 15
11. A. Spurkland, K.S. Ronningen, B. Vandvik, E. Thorsby, and F. Vartdal HLA-DQA1 and HLA-DQB1 genes may jointly determine susceptibility to develop multiple sclerosis Hum. Immunol. 30 1991 69 75
12. M. Allen, M. Sandberg-Wollheim, K. Sjögren, H.A. Erlich, U. Petterson, and U. Gyllensten Association of susceptibility to multiple sclerosis in Sweden with HLA class II DRB1 and DQB1 alleles Hum. Immunol. 39 1994 41 48 (Pubitemid 24152734)
13. R.K. Burfoot, C.J. Jensen, J. Field, J. Stankovich, M.D. Varney, L.J. Johnson, H. Butzkueven, D. Booth, M. Bahlo, B.D. Tait, B.V. Taylor, T.P. Speed, R. Heard, G.J. Stewart, S.J. Foote, T.J. Kilpatrick, and J.P. Rubio SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians Tissue Antigens 71 2008 42 50 (Pubitemid 350243380)
14. A. Fogdell-Hahn, A. Ligers, M. Gronning, J. Hillert, and O. Olerup Multiple sclerosis: A modifying influence of HLA class I genes in an HLA class II associated autoimmune disease Tissue Antigens 55 2000 140 148 (Pubitemid 30103439)
15. T.W. Yeo, P.L. De Jager, S.G. Gregory, L.F. Barcellos, A. Walton, A. Goris, C. Fenoglio, M. Ban, C.J. Taylor, R.S. Goodman, E. Walsh, C.S. Wolfish, R. Horton, J. Traherne, S. Beck, J. Trowsdale, S.J. Caillier, A.J. Ivinson, T. Green, S. Pobywajlo, E.S. Lander, M.A. Pericak-Vance, J.L. Haines, M.J. Daly, J.R. Oksenberg, S.L. Hauser, A. Compston, D.A. Hafler, J.D. Rioux, and S. Sawcer A second major histocompatibility complex susceptibility locus for multiple sclerosis Ann. Neurol. 61 2007 228 236 (Pubitemid 46557347)
16. M.A. Friese, and L. Fugger Pathogenic CD8(+) T cells in multiple sclerosis Ann. Neurol. 66 2009 132 141
17. T. Masterman, A. Ligers, T. Olsson, M. Andersson, O. Olerup, and J. Hillert HLA-DR15 is associated with lower age at onset in multiple sclerosis Ann. Neurol. 48 2000 211 219 (Pubitemid 30617040)
18. C. Smestad, B. Brynedal, G. Jonasdottir, A.R. Lorentzen, T. Masterman, E. Akesson, A. Spurkland, B.A. Lie, J. Palmgren, E.G. Celius, J. Hillert, and H.F. Harbo The impact of HLA-A and -DRB1 on age at onset, disease course and severity in Scandinavian multiple sclerosis patients Eur. J. Neurol. 14 2007 835 840 (Pubitemid 47108189)
19. M. Liguori, B.C. Healy, B.I. Glanz, S.J. Khoury, N. Moscufo, H.L. Weiner, P.L. De Jager, and C.R. Guttmann HLA (A-B-C and -DRB1) alleles and brain MRI changes in multiple sclerosis: A longitudinal study Genes Immun. 2010 10.1038/gene.2010.58 (epub ahead of print)
20. A. Van Der Walt, J. Stankovich, M. Bahlo, B. Taylor, I. Van Der Mei, S. Foote, J. Rubio, T. Kilpatrick, and H. Butzkueven Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognition Mult. Scler. 2010 10.1177/1352458510389101 (epub ahead of print)
21. S.V. Ramagopalan, N.J. Maugeri, L. Handunnetthi, M.R. Lincoln, S.M. Orton, D.A. Dyment, G.C. Deluca, B.M. Herrera, M.J. Chao, A.D. Sadovnick, G.C. Ebers, and J.C. Knight Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB11501 is regulated by vitamin D PLoS Genet. 5 2009 e1000369
22. G.C. Ebers, K. Kukay, D.E. Bulman, A.D. Sadovnick, G. Rice, C. Anderson, H. Armstrong, K. Cousin, R.B. Bell, W. Hader, D.W. Paty, S. Hashimoto, J. Oger, P. Duquette, S. Warren, T. Gray, P. O'Connor, A. Nath, A. Auty, L. Metz, G. Francis, J.E. Paulseth, T.J. Murray, W. Pryse-Phillips, R. Nelson, M. Freedman, D. Brunet, J.P. Bouchard, D. Hinds, and N. Risch A full genome search in multiple sclerosis Nat. Genet. 13 1996 472 476 (Pubitemid 26256624)
23. A. Oturai, F. Larsen, L.P. Ryder, H.O. Madsen, J. Hillert, S. Fredrikson, M. Sandberg-Wollheim, M. Laaksonen, N. Koch-Henriksen, S. Sawcer, L. Fugger, P.S. Sorensen, and A. Svejgaard Linkage and association analysis of susceptibility regions on chromosomes 5 and 6 in 106 Scandinavian sibling pair families with multiple sclerosis Ann. Neurol. 46 1999 612 616 (Pubitemid 29466440)
24. International Multiple Sclerosis Genetics Consortium (IMSGC) Risk alleles for multiple sclerosis identified by a genomewide study N. Engl. J. Med. 357 2007 851 862
25. S. Sawcer, M. Ban, M. Maranian, T.W. Yeo, A. Compston, A. Kirby, M.J. Daly, P.L. De Jager, E. Walsh, E.S. Lander, J.D. Rioux, D.A. Hafler, A. Ivinson, J. Rimmler, S.G. Gregory, S. Schmidt, M.A. Pericak-Vance, E. Akesson, J. Hillert, P. Datta, A. Oturai, L.P. Ryder, H.F. Harbo, A. Spurkland, K.M. Myhr, M. Laaksonen, D. Booth, R. Heard, G. Stewart, R. Lincoln, L.F. Barcellos, S.L. Hauser, J.R. Oksenberg, S.J. Kenealy, J.L. Haines, and International Multiple Sclerosis Genetics Consortium A high-density screen for linkage in multiple sclerosis Am. J. Hum. Genet. 77 2005 454 467 (Pubitemid 41192651)
26. Z. Zhang, K. Duvefelt, F. Svensson, T. Masterman, G. Jonasdottir, H. Salter, T. Emahazion, D. Hellgren, G. Falk, T. Olsson, J. Hillert, and M. Anvret Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis Genes Immun. 6 2005 145 152 (Pubitemid 40439541)
27. F. Lundmark, H.F. Harbo, E.G. Celius, J. Saarela, P. Datta, A. Oturai, C.M. Lindgren, T. Masterman, H. Salter, and J. Hillert Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations J. Neuroimmunol. 180 2006 193 198 (Pubitemid 44692332)
28. International Multiple Sclerosis Genetics Consortium (IMSGC) The expanding genetic overlap between multiple sclerosis and type I diabetes Genes Immun. 10 2009 11 14
29. A. Martínez, N. Perdigones, M.C. Cénit, L. Espino, J. Varadé, J.R. Lamas, J.L. Santiago, M. Fernández-Arquero, H. de la Calle, R. Arroyo, E.G. de la Concha, B. Fernández-Gutiérrez, and E. Urcelay Chromosomal region 16p13: further evidence of increased predisposition to immune diseases Ann. Rheum. Dis. 69 2010 309 311
30. E.A. Stahl, S. Raychaudhuri, E.F. Remmers, G. Xie, S. Eyre, B.P. Thomson, Y. Li, F.A. Kurreeman, A. Zhernakova, A. Hinks, C. Guiducci, R. Chen, L. Alfredsson, C.I. Amos, K.G. Ardlie, BIRAC Consortium, A. Barton, J. Bowes, E. Brouwer, N.P. Burtt, J.J. Catanese, J. Coblyn, M.J. Coenen, K.H. Costenbader, L.A. Criswell, J.B. Crusius, J. Cui, P.I. de Bakker, P.L. De Jager, B. Ding, P. Emery, E. Flynn, P. Harrison, L.J. Hocking, T.W. Huizinga, D.L. Kastner, X. Ke, A.T. Lee, X. Liu, P. Martin, A.W. Morgan, L. Padyukov, M.D. Posthumus, T.R. Radstake, D.M. Reid, M. Seielstad, M.F. Seldin, N.A. Shadick, S. Steer, P.P. Tak, W. Thomson, A.H. Van Der Helm-Van Mil, I.E. Van Der Horst-Bruinsma, C.E. Van Der Schoot, P.L. Van Riel, M.E. Weinblatt, A.G. Wilson, G.J. Wolbink, B.P. Wordsworth, YEAR Consortium, C. Wijmenga, E.W. Karlson, R.E. Toes, N. de Vries, A.B. Begovich, J. Worthington, K.A. Siminovitch, P.K. Gregersen, L. Klareskog, and R.M. Plenge Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci Nat. Genet. 42 2010 508 514
31. C. O'Doherty, I. Alloza, M. Rooney, and K. Vandenbroeck IL7RA polymorphisms and chronic inflammatory arthropathies Tissue Antigens 74 2009 429 431
32. S.G. Gregory, S. Schmidt, P. Seth, J.R. Oksenberg, J. Hart, A. Prokop, S.J. Caillier, M. Ban, A. Goris, L.F. Barcellos, R. Lincolnm, J.L. McCauley, S.J. Sawcer, D.A. Compston, B. Dubois, S.L. Hauser, M.A. Garcia-Blanco, M.A. Pericak-Vance, J.L. Haines, and Multiple Sclerosis Genetics Group Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis Nat. Genet. 39 2007 1083 1091 (Pubitemid 47340652)
33. F. Lundmark, K. Duvefelt, E. Iacobaeus, I. Kockum, E. Wallström, M. Khademi, A. Oturai, L.P. Ryder, J. Saarela, H.F. Harbo, E.G. Celius, H. Salter, T. Olsson, and J. Hillert Variation in interleukin 7 receptor α chain (IL7R) influences risk of multiple sclerosis Nat. Genet. 39 2007 1108 1113 (Pubitemid 47340654)
34. F. Weber, B. Fontaine, I. Cournu-Rebeix, A. Kroner, M. Knop, S. Lutz, F. Müller-Sarnowski, M. Uhr, T. Bettecken, M. Kohli, S. Ripke, M. Ising, P. Rieckmann, D. Brassat, G. Semana, M.C. Babron, S. Mrejen, C. Gout, O. Lyon-Caen, J. Yaouanq, G. Edan, M. Clanet, F. Holsboer, F. Clerget-Darpoux, and B. Müller-Myhsok IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations Genes Immun. 9 2008 259 263 (Pubitemid 351584192)
35. M.J. D'Netto, H. Ward, K.M. Morrison, S.V. Ramagopalan, D.A. Dyment, G.C. DeLuca, L. Handunnetthi, A.D. Sadovnick, and G.C. Ebers Risk alleles for multiple sclerosis in multiplex families Neurology 72 2009 1984 1988
36. E. Hoe, F. McKay, S. Schibeci, R. Heard, G. Stewart, and D. Booth Interleukin 7 receptor alpha chain haplotypes vary in their influence on multiple sclerosis susceptibility and response to interferon Beta J. Interferon Cytokine Res. 30 2010 291 298
37. B. Seddon, P. Tomlinson, and R. Zamoyska Interleukin 7 and T cell receptor signals regulate homeostasis of CD4 memory cells Nat. Immunol. 4 2003 680 686 (Pubitemid 36874445)
38. Y.W. He, and T.R. Malek Interleukin-7 receptor alpha is essential for the development of gamma delta+ T cells, but not natural killer cells J. Exp. Med. 184 1996 289 293 (Pubitemid 26247240)
39. A.M. Crawley, S. Faucher, and J.B. Angel Soluble IL-7R alpha (sCD127) inhibits IL-7 activity and is increased in HIV infection J. Immunol. 184 2010 4679 4687
40. International Multiple Sclerosis Genetics Consortium Refining genetic associations in multiple sclerosis Lancet Neurol. 7 2008 567 569
41. T.R. Malek, and A. Bayer Tolerance, not immunity, crucially depends on IL-2 Nat. Rev. Immun. 4 2004 665 674 (Pubitemid 39223073)
42. C.A. Dendrou, V. Plagnol, E. Fung, J.H. Yang, K. Downes, J.D. Cooper, S. Nutland, G. Coleman, M. Himsworth, M. Hardy, O. Burren, B. Healy, N.M. Walker, K. Koch, W.H. Ouwehand, J.R. Bradley, N.J. Wareham, J.A. Todd, and L.S. Wicker Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource Nat. Genet. 41 2009 1011 1015
43. A. Barton, J.A. Woolmore, D. Ward, S. Eyre, A. Hinks, W.E. Ollier, R.C. Strange, A.A. Fryer, S. John, C.P. Hawkins, and J. Worthington Association of protein kinase C alpha (PRKCA) gene with multiple sclerosis in a UK population Brain 127 2004 1717 1722 (Pubitemid 39061548)
44. J. Saarela, S.P. Kallio, D. Chen, A. Montpetit, A. Jokiaho, E. Choi, R. Asselta, D. Bronnikov, M.R. Lincoln, A.D. Sadovnick, P.J. Tienari, K. Koivisto, A. Palotie, G.C. Ebers, T.J. Hudson, and L. Peltonen PRKCA and multiple sclerosis: association in two independent populations PLoS Genet. 2 2006 364 375
45. G. Baier The PKC gene module: molecular biosystematics to resolve its T cell functions Immunol. Rev. 192 2003 64 79 (Pubitemid 36613324)
46. C.M. Costantino, J. Hutton, C. Baecher-Allan, and D.A. Hafler Multiple sclerosis and regulatory T cells J. Clin. Immunol. 28 2008 697 706
47. P.L. De Jager, C. Baecher-Allan, L.M. Maier, A.T. Arthur, L. Ottoboni, L. Barcellos, J.L. McCauley, S. Sawcer, A. Goris, J. Saarela, R. Yelensky, A. Price, V. Leppa, N. Patterson, P.I. de Bakker, D. Tran, C. Aubin, S. Pobywajlo, E. Rossin, X. Hu, C.W. Ashley, E. Choy, J.D. Rioux, M.A. Pericak-Vance, A. Ivinson, D.R. Booth, G.J. Stewar, A. Palotie, L. Peltonen, B. Dubois, J.L. Haines, H.L. Weiner, A. Compston, S.L. Hauser, M.J. Daly, D. Reich, J.R. Oksenberg, and D.A. Hafler The role of the CD58 locus in multiple sclerosis Proc. Natl. Acad. Sci. USA 106 2009 5264 5269
48. I.A. Hoppenbrouwers, Y.S. Aulchenko, A.C. Janssens, S.V. Ramagopalan, L. Broer, M. Kayser, G.C. Ebers, B.A. Oostra, C.M. Van Duijn, and R.Q. Hintzen Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis J. Hum. Genet. 54 2009 676 680
49. Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene) Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 Nat. Genet. 41 2009 824 828
50. P.L. De Jager, X. Jia, J. Wang, P.I. de Bakker, L. Ottoboni, N.T. Aggarwal, L. Piccio, S. Raychaudhuri, D. Tran, C. Aubin, R. Briskin, S. Romano, International MS Genetics Consortium, S.E. Baranzini, J.L. McCauley, M.A. Pericak-Vance, J.L. Haines, R.A. Gibson, Y. Naeglin, B. Uitdehaag, P.M. Matthews, L. Kappos, C. Polman, W.L. McArdle, D.P. Strachan, D. Evans, A.H. Cross, M.J. Daly, A. Compston, S.J. Sawcer, H.L. Weiner, S.L. Hauser, D.A. Hafler, and J.R. Oksenberg Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci Nat. Genet. 41 2009 776 782
51. N.J. Hassan, S.J. Simmonds, N.G. Clarkson, S. Hanrahan, M.J. Puklavec, M. Bomb, A.N. Barclay, and M.H. Brown CD6 regulates T-cell responses through activation-dependent recruitment of the positive regulator SLP-76 Mol. Cell. Biol. 26 2006 6727 6738 (Pubitemid 44277906)
52. V. Brucklacher-Waldert, K. Stuerner, M. Kolster, J. Wolthausen, and E. Tolosa Phenotypical and functional characterization of T helper 17 cells in multiple sclerosis Brain 132 2009 3329 3341
53. J.P. Rubio, J. Stankovich, J. Field, N. Tubridy, M. Marriott, C. Chapman, M. Bahlo, D. Perera, L.J. Johnson, B.D. Tait, M.D. Varney, T.D. Speed, B.V. Taylor, S.J. Foote, H. Butzkueven, and T.J. Kilpatrick Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians Genes Immun. 9 2008 624 630
54. M. Zoledziewska, G. Costa, M. Pitzalis, E. Cocco, C. Melis, L. Moi, P. Zavattari, R. Murru, R. Lampis, L. Morelli, F. Poddie, P. Frongia, P. Pusceddu, M. Bajorek, A. Marras, A.M. Satta, A. Chessa, M. Pugliatti, S. Sotgiu, M.B. Whalen, G. Rosati, F. Cucca, and M.G. Marrosu Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia Genes Immun. 10 2009 15 17
55. S. Nischwitz, S. Cepok, A. Kroner, C. Wolf, M. Knop, F. Müller-Sarnowski, H. Pfister, P. Rieckmann, B. Hemmer, M. Ising, M. Uhr, T. Bettecken, F. Holsboer, B. Müller-Myhsok, and F. Weber More CLEC16A gene variants associated with multiple sclerosis Acta Neurol. Scand. 2010 10.1111/j.1600-0404.2010.01421.x (epub ahead of print)
56. J. Den Dunnen, S.I. Gringhuis, and T.B. Geijtenbeek Innate signaling by the C-type lectin DC-SIGN dictates immune responses Cancer Immunol. Immunother. 8 2009 1149 1157
57. K. Drickamer C-type lectin-like domains Curr. Opin. Struct. Biol. 9 1999 585 590 (Pubitemid 29460584)
58. M. Jagodic, C. Colacios, R. Nohra, A.S. Dejean, A.D. Beyeen, M. Khademi, A. Casemayou, L. Lamouroux, C. Duthoit, O. Papapietro, L. Sjöholm, I. Bernard, D. Lagrange, I. Dahlman, F. Lundmark, A.B. Oturai, H.B. Soendergaard, A. Kemppinen, J. Saarela, P.J. Tienari, H.F. Harbo, A. Spurkland, S.V. Ramagopalan, D.A. Sadovnick, G.C. Ebers, M. Seddighzadeh, L. Klareskog, L. Alfredsson, L. Padyukov, J. Hillert, M. Clanet, G. Edan, B. Fontaine, G.J. Fournié, I. Kockum, A. Saoudi, and T. Olsson A role for VAV1 in experimental autoimmune encephalomyelitis and multiple sclerosis Sci. Transl. Med. 1 10 2009 10ra21
59. S.W. Henning, and D.A. Cantrell GTPases in antigen receptor signalling Curr. Opin. Immunol. 10 1998 322 329 (Pubitemid 28286959)
60. A.L. DeFranco VAV and the B cell signalosome Nat. Immunol. 2 2001 482 484
61. S. Nischwitz, S. Cepok, A. Kroner, C. Wolf, M. Knop, F. Müller-Sarnowski, H. Pfister, D. Roeske, P. Rieckmann, B. Hemmer, M. Ising, M. Uhr, T. Bettecken, F. Holsboer, B. Müller-Myhsok, and F. Weber Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis J. Neuroimmunol. 227 2010 162 166
62. K. Selmaj, C.S. Raine, B. Canella, and C.F. Brosnan Identification of lymphotoxin and tumor necrosis factor in multiple sclerosis lesions J. Clin. Invest. 87 1991 949 954
63. A. Fromont, J. De Seze, M.C. Fleury, J.F. Maillefert, and T. Moreau Inflammatory demyelinating events following treatment with anti-tumor necrosis factor Cytokine 45 2009 55 57
64. T. Kümpfel, and R. Hohlfeld Multiple sclerosis. TNFRSF1A, TRAPS and multiple sclerosis Nat. Rev. Neurol. 5 2009 528 529
65. F. Blanco-Kelly, F. Matesanz, A. Alcina, M. Teruel, L.M. Díaz-Gallo, M. Gómez-García, M.A. López-Nevot, L. Rodrigo, A. Nieto, C. Cardeña, G. Alcain, M. Díaz-Rubio, E.G. de la Concha, O. Fernandez, R. Arroyo, J. Martín, and E. Urcelay CD40: novel association with Crohn's disease and replication in multiple sclerosis susceptibility PLoS ONE 5 7 2010 e11520
66. F.H. Durie, T.M. Foy, S.R. Masters, J.D. Laman, and R.J. Noelle The role of CD40 in the regulation of humoral and cell-mediated immunity Immunol. Today 5 1994 406 411 (Pubitemid 24272184)
67. G. Kristjansdottir, J.K. Sandling, A. Bonetti, I.M. Roos, L. Milani, C. Wang, S.M. Gustafsdottir, S. Sigurdsson, A. Lundmark, P.J. Tienari, K. Koivisto, I. Elovaara, T. Pirttilä, M. Reunanen, L. Peltonen, J. Saarela, J. Hillert, T. Olsson, U. Landegren, A. Alcina, O. Fernández, L. Leyva, M. Guerrero, M. Lucas, G. Izquierdo, F. Matesanz, and A.C. Syvänen Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations J. Med. Genet. 45 2008 362 369 (Pubitemid 351839477)
68. A. Takaoka, H. Yanai, S. Kondo, G. Duncan, H. Negishi, T. Mizutani, S. Kano, K. Honda, Y. Ohba, T.W. Mak, and T. Taniguchi Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors Nature 434 2001 243 249 (Pubitemid 40388058)
69. B.J. Barnes, P.A. Moore, and P.M. Pitha Virus-specific activation of a novel interferon regulatory factor, IRF-5, results in the induction of distinct interferon alpha genes J. Biol. Chem. 276 2001 23382 23390
70. C.H. Lee, M. Melchers, H. Wang, T.A. Torrey, R. Slota, C.F. Qi, J.Y. Kim, P. Lugar, H.J. Kong, L. Farrington, B. Van Der Zouwen, J.X. Zhou, V. Lougaris, P.E. Lipsky, A.C. Grammer, and H.C. Morse Jr. Regulation of the germinal center gene program by interferon (IFN) regulatory factor 8/IFN consensus sequence-binding protein J. Exp. Med. 203 2006 63 72 (Pubitemid 43139646)
71. M. Ban, A. Goris, A.R. Lorentzen, A. Baker, T. Mihalova, G. Ingram, D.R. Booth, R.N. Heard, G.J. Stewart, E. Bogaert, B. Dubois, H.F. Harbo, E.G. Celius, A. Spurkland, R. Strange, C. Hawkins, N.P. Robertson, F. Dudbridge, J. Wason, P.L. De Jager, D. Hafler, J.D. Rioux, A.J. Ivinson, J.L. McCauley, M. Pericak-Vance, J.R. Oksenberg, S.L. Hauser, D. Sexton, J. Haines, S. Sawcer, Wellcome Trust Case-Control Consortium (WTCCC), and Compston A replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor Eur. J. Hum. Genet. 17 2009 1309 1313
72. I.L. Mero, A.R. Lorentzen, M. Ban, C. Smestad, E.G. Celius, J.H. Aarseth, K.M. Myhr, J. Link, J. Hillert, T. Olsson, I. Kockum, T. Masterman, A.B. Oturai, H.B. Søndergaard, F. Sellebjerg, J. Saarela, A. Kemppinen, I. Elovaara, A. Spurkland, F. Dudbridge, B.A. Lie, and H.F. Harbo A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis Eur. J. Hum. Genet. 18 2010 502 504
73. W.T. Watford, and J.J. O'Shea Human tyk2 kinase deficiency: another primary immunodeficiency syndrome Immunity 25 2006 695 697 (Pubitemid 46107292)
74. G. Uzé, and D. Monneron IL-28 and IL-29: newcomers to the interferon family Biochimie 89 2007 729 734 (Pubitemid 47001631)
75. K. Ghoreschi, A. Laurence, and J.J. O'Shea Janus kinases in immune cell signaling Immunol. Rev. 228 2009 273 287
76. N. Couturier, F. Bucciarelli, R.N. Nurtdinov, M. Debouverie, C. Lebrun-Frenay, G. Defer, T. Moreau, C. Confavreux, S. Vukusic, I. Cournu-Rebeix, R.H. Goertsches, U.K. Zettl, M. Comabella, X. Montalban, P. Rieckmann, F. Weber, B. Müller-Myhsok, G. Edan, B. Fontaine, L.T. Mars, A. Saoudi, J.R. Oksenberg, M. Clanet, R.S. Liblau, and D. Brassat Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility Brain 134 2011 693 703
77. L. Adorini, and G. Penna Control of autoimmune diseases by the vitamin D endocrine system Nat. Clin. Pract. Rheumatol. 4 2008 404 412
78. S. Chen, G.P. Sims, X.X. Chen, Y.Y. Gu, S. Chen, and P.E. Lipsky Modulatory effects of 1,25-dihydroxyvitamin D3 on human B cell differentiation J. Immunol. 179 2007 1634 1647
79. A. Boonstra, F.J. Barrat, C. Crain, V.L. Heath, H.F. Savelkoul, and A. O'Garra 1alpha,25-Dihydroxyvitamin d3 has a direct effect on naive CD4(+) T cells to enhance the development of Th2 cells J. Immunol. 167 2001 4974 4980 (Pubitemid 33009728)
80. Y.S. Aulchenko, I.A. Hoppenbrouwers, S.V. Ramagopalan, L. Broer, N. Jafari, J. Hillert, J. Link, W. Lundström, E. Greiner, A. Dessa Sadovnick, D. Goossens, C. Van Broeckhoven, J. Del-Favero, G.C. Ebers, B.A. Oostra, C.M. Van Duijn, and R.Q. Hintzen Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis Nat. Genet. 40 2008 1402 1403
81. International Multiple Sclerosis Genetics Consortium (IMSGC) Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis Nat. Genet. 42 2010 469 470
82. F. Martinelli-Boneschi, F. Esposito, D. Scalabrini, C. Fenoglio, M.E. Rodegher, P. Brambilla, B. Colombo, A. Ghezzi, R. Capra, L. Collimedaglia, G. Coniglio, M. De Riz, M. Serpente, C. Cantoni, E. Scarpini, V. Martinelli, D. Galimberti, and G. Comi Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort Eur. J. Neurol. 17 2010 740 745
83. D.A. Lyons, S.G. Naylor, A. Scholze, and W.S. Talbot Kif1b is essential for mRNA localization in oligodendrocytes and development of myelinated axons Nat. Genet. 41 2009 854 858
84. S.E. Baranzini, J. Wang, R.A. Gibson, N. Galwey, Y. Naegelin, F. Barkhof, E.W. Radue, R.L. Lindberg, B.M. Uitdehaag, M.R. Johnson, A. Angelakopoulou, L. Hall, J.C. Richardson, R.K. Prinjha, A. Gass, J.J. Geurts, J. Kragt, M. Sombekke, H. Vrenken, P. Qualley, R.R. Lincoln, R. Gomez, S.J. Caillier, M.F. George, H. Mousavi, R. Guerrero, D.T. Okuda, B.A. Cree, A.J. Green, E. Waubant, D.S. Goodin, D. Pelletier, P.M. Matthews, S.L. Hauser, L. Kappos, C.H. Polman, and J.R. Oksenberg Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis Hum. Mol. Genet. 18 2009 767 778
85. M.L. Cavanillas, O. Fernández, M. Comabella, A. Alcina, M. Fedetz, G. Izquierdo, M. Lucas, M.C. Cénit, R. Arroyo, K. Vandenbroeck, I. Alloza, M. García-Barcina, A. Antigüedad, L. Leyva, C.L. Gómez, J. Olascoaga, D. Otaegui, Y. Blanco, A. Saiz, X. Montalbán, F. Matesanz, and E. Urcelay Replication of top markers of a genome-wide association study in multiple sclerosis in Spain Genes Immun. 2010 10.1038/gene.2010.52 (epub ahead of print)
86. G. Luxardi, A. Galli, S. Forlani, K. Lawson, F. Maina, and R. Dono Glypicans are differentially expressed during patterning and neurogenesis of early mouse brain Biochem. Biophys. Res. Commun. 352 2007 55 60 (Pubitemid 44821093)
87. D. Van Vactor, D.P. Wall, and K.G. Johnson Heparan sulfate proteoglycans and the emergence of neuronal connectivity Curr. Opin. Neurobiol. 16 2006 40 51 (Pubitemid 43221852)
88. M. Veugelers, J. Vermeesch, G. Reekmans, R. Steinfeld, P. Marynen, and G. David Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family Genomics 40 1997 24 30 (Pubitemid 27108243)
89. W. Worapamorn, H.R. Haase, H. Li, and P.M. Bartold Growth factors and cytokines modulate gene expression of cell-surface proteoglycans in human periodontal ligament cells J. Cell. Physiol. 186 2001 448 456 (Pubitemid 32147728)
90. P.L. De Jager, L.B. Chibnik, J. Cui, J. Reischl, S. Lehr, K.C. Simon, C. Aubin, D. Bauer, J.F. Heubach, R. Sandbrink, M. Tyblova, P. Lelkova, Steering committee of the BENEFIT study, Steering committee of the BEYOND study, Steering committee of the LTF study, Steering committee of the CCR1 study, E. Havrdova, C. Pohl, D. Horakova, A. Ascherio, D.A. Hafler, and E.W. Karlson Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: A weighted genetic risk score Lancet Neurol. 8 2009 1111 1119
91. S.E. Baranzini, N.W. Galwey, J. Wang, P. Khankhanian, R. Lindberg, D. Pelletier, W. Wu, B.M. Uitdehaag, L. Kappos, GeneMSA Consortium, C.H. Polman, P.M. Matthews, S.L. Hauser, R.A. Gibson, J.R. Oksenberg, and M.R. Barnes Pathway and network-based analysis of genome-wide association studies in multiple sclerosis Hum. Mol. Genet. 18 2009 2078 2090
92. S.E. Baranzini, R. Srinivasan, P. Khankhanian, D.T. Okuda, S.J. Nelson, P.M. Matthews, S.L. Hauser, J.R. Oksenberg, and D. Pelletier Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis Brain 133 2010 2603 2611
93. S.V. Ramagopalan, and G.C. Ebers Sequencing the multiple sclerosis genome: more questions than answers Lancet Neurol. 9 2010 757 759
94. S.E. Baranzini, J. Mudge, J.C. Van Velkinburgh, P. Khankhanian, I. Khrebtukova, N.A. Miller, L. Zhang, A.D. Farmer, C.J. Bell, R.W. Kim, G.D. May, J.E. Woodward, S.J. Caillier, J.P. McElroy, R. Gomez, M.J. Pando, L.E. Clendenen, E.E. Ganusova, F.D. Schilkey, T. Ramaraj, O.A. Khan, J.J. Huntley, S. Luo, P.Y. Kwok, T.D. Wu, G.P. Schroth, J.R. Oksenberg, S.L. Hauser, and S.F. Kingsmore Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis Nature 464 2010 1351 1356
95. E. Byun, S.J. Caillier, X. Montalban, P. Villoslada, O. Fernández, D. Brassat, M. Comabella, J. Wang, L.F. Barcellos, S.E. Baranzini, and J.R. Oksenberg Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosis Arch. Neurol. 65 2008 337 344 (Pubitemid 351398518)
96. M. Comabella, D.W. Craig, C. Morcillo-Suárez, J. Río, A. Navarro, M. Fernández, R. Martin, and X. Montalban Genome-wide scan of 500,000 single-nucleotide polymorphisms among responders and nonresponders to interferon beta therapy in multiple sclerosis Arch. Neurol. 66 2009 972 978
97. K. Vandenbroeck, E. Urcelay, and M. Comabella IFN-beta pharmacogenomics in multiple sclerosis Pharmacogenomics 11 2010 1137 1148
98. P.S. Sorensen, C. Ross, K.M. Clemmesen, K. Bendtzen, J.L. Frederiksen, K. Jensen, O. Kristensen, T. Petersen, S. Rasmussen, M. Ravnborg, E. Stenager, N. Koch-Henriksen, and Danish Multiple Sclerosis Study Group Clinical importance of neutralising antibodies against interferon beta in patients with relapsing-remitting multiple sclerosis Lancet 362 2003 1184 1191 (Pubitemid 37255344)
99. D.S. Goodin, E.M. Frohman, B. Hurwitz, P.W. O'Connor, J.J. Oger, A.T. Reder, and J.C. Stevens Neutralizing antibodies to interferon beta: assessment of their clinical and radiographic impact: an evidence report: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology Neurology 68 2007 977 984 (Pubitemid 46569129)
100. C.H. Polman, A. Bertolotto, F. Deisenhammer, G. Giovannoni, H.P. Hartung, B. Hemmer, J. Killestein, H.F. McFarland, J. Oger, A.R. Pachner, J. Petkau, A.T. Reder, S.C. Reingold, H. Schellekens, and P.S. Sørensen Recommendations for clinical use of data on neutralising antibodies to interferon-beta therapy in multiple sclerosis Lancet Neurol. 9 2010 740 750
101. F. Deisenhammer Neutralizing antibodies to interferon-beta and other immunological treatments for multiple sclerosis: prevalence and impact on outcomes CNS Drugs 23 2009 379 396
102. H. Panitch, D.S. Goodin, G. Francis, P. Chang, P.K. Coyle, P. O'Connor, E. Monaghan, D. Li, B. Weinshenker, EVIDENCE Study Group. EVidence of Interferon Dose-response: European North American Compartative Efficacy, and University of British Columbia MS/MRI Research Group Randomized, comparative study of interferon beta-1a treatment regimens in MS: the EVIDENCE trial Neurology 59 2002 1496 1506 (Pubitemid 35387053)
103. L. Durelli, E. Verdun, P. Barbero, M. Bergui, E. Versino, A. Ghezzi, E. Montanari, M. Zaffaroni, and Independent Comparison of Interferon (INCOMIN) Trial Study Group Every-other-day interferon beta-1b versus once-weekly interferon beta-1a for multiple sclerosis: results of a 2-year prospective randomised multicentre study (INCOMIN) Lancet 359 2002 1453 1460 (Pubitemid 34457761)
104. S. Hoffmann, S. Cepok, V. Grummel, K. Lehmann-Horn, J. Hackermüller, P.F. Stadler, H.P. Hartung, A. Berthele, F. Deisenhammer, R. Wassmuth, and B. Hemmer HLA-DRB10401 and HLA-DRB10408 are strongly associated with the development of antibodies against interferon-beta therapy in multiple sclerosis Am. J. Hum. Genet. 83 2008 219 227
105. Weber, F.; Cepok, S.; Wolf, C.; Berthele, A.; Uhr, M.; Bettecken, T.; Buck, D.; Hartung, H.P.; Holsboer, F.; Müller-Myhsok, B.; Hemmer, B. (in press) Single nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-β therapy in multiple sclerosis patients. Pharmacogenom. J.
106. I. Grossman, N. Avidan, C. Singer, D. Goldstaub, L. Hayardeny, E. Eyal, E. Ben-Asher, T. Paperna, I. Pe'er, D. Lancet, J.S. Beckmann, and A. Miller Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers Pharmacogenet. Genomics 17 2007 657 666 (Pubitemid 47057715)
107. T. Kam-Thong, D. Czamara, K. Tsuda, K. Borgwardt, C.M. Lewis, A. Erhardt-Lehmann, B. Hemmer, P. Rieckmann, M. Daake, F. Weber, C. Wolf, A. Ziegler, B. Pütz, F. Holsboer, B. Schölkopf, and B. Müller-Myhsok EPIBLASTER-fast exhaustive two-locus epistasis detection strategy using graphical processing units Eur. J. Hum. Genet. 2010 10.1038/ejhg.2010.196 (epub ahead of print)
108. X. Hu, Q. Liu, Z. Zhang, Z. Li, S. Wang, L. He, and Y. Shi SHEsisEpi, a GPU-enhanced genome-wide SNP-SNP interaction scanning algorithm, efficiently reveals the risk genetic epistasis in bipolar disorDer Cell Res. 20 2010 854 857
109. R. Bomprezzi, P.E. Kovanen, and R. Martin New approaches to investigating heterogeneity in complex traits J. Med. Genet. 40 2003 553 559 (Pubitemid 37046907)
110. R. Martin, and D. Leppert A plea for "omics" research in complex diseases such as multiple sclerosis - a change of mind is needed J. Neurol. Sci. 222 2004 3 5 (Pubitemid 38881499)
111. A. Alcina, O. Fernández, J.R. Gonzalez, A. Catalá-Rabasa, M. Fedetz, D. Ndagire, L. Leyva, M. Guerrero, C. Arnal, C. Delgado, M. Lucas, G. Izquierdo, and F. Matesanz Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis Eur. J. Hum. Genet. 18 2010 827 831
112. C.J. Westlake, J.R. Junutula, G.C. Simon, M. Pilli, R. Prekeris, R.H. Scheller, P.K. Jackson, and A.G. Eldridge Identification of Rab11 as a small GTPase binding protein for the Evi5 oncogene Proc. Natl. Acad. Sci. USA 104 2007 1236 1241 (Pubitemid 46183988)
113. P.M. Richardson, and L.I. Zon Molecular cloning of a cDNA with a novel domain present in the tre-2 oncogene and the yeast cell cycle regulators BUB2 and cdc16 Oncogene 11 1995 1139 1148
114. S.L. Faitar, J.T. Dabbeekeh, T.A. Ranalli, and J.K. Cowell EVI5 is a
115. K. Vandenbroeck, I. Alloza, B. Swaminathan, A. Antigüedad, D. Otaegui, J. Olascoaga, M.G. Barcina, V. de las Heras, M. Bartolomé, M. Fernández-Arquero, R. Arroyo, R. Alvarez-Lafuente, M.C. Cénit, and E. Urcelay Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection Genes Immun. 12 2011 40 45
116. S. Wieczorek, S. Hoffjan, A. Chan, L. Rey, L. Harper, H. Fricke, J.U. Holle, W.L. Gross, J.T. Epplen, and P. Lamprecht Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients Genes Immun. 10 2009 591 595
117. C. Bottino, R. Castriconi, L. Moretta, and A. Moretta Cellular ligands of activating NK receptors Trends Immunol. 26 2005 221 226 (Pubitemid 41556860)
118. V. Dardalhon, A.S. Schubart, J. Reddy, J.H. Meyers, L. Monney, C.A. Sabatos, R. Ahuja, K. Nguyen, G.J. Freeman, E.A. Greenfield, R.A. Sobel, and V.K. Kuchroo CD226 is specifically expressed on the surface of Th1 cells and regulates their expansion and effector functions J. Immunol. 175 2005 1558 1565 (Pubitemid 41023057)
119. N. Reymond, A.M. Imbert, E. Devilard, S. Fabre, C. Chabannon, L. Xerri, C. Farnarier, C. Cantoni, C. Bottino, A. Moretta, P. Dubreuil, and M. Lopez DNAM-1 and PVR regulate monocyte migration through endothelial junctions J. Exp. Med. 199 2004 1331 1341 (Pubitemid 38685725)
120. E. Sundqvist, M. Bäärnhielm, L. Alfredsson, J. Hillert, T. Olsson, and I. Kockum Confirmation of association between multiple sclerosis and CYP27B1 Eur. J. Hum. Genet. 18 2010 1349 1352