Genetic variants of CC chemokine genes in experimental autoimmune encephalomyelitis, multiple sclerosis and rheumatoid arthritis

Genes and Immunity

Volumn 11, Issue 2, 2010, Pages 142-154

  Ockinger J ^a   Stridh, P ^a   Beyeen, A D ^a   Lundmark, F ^b   Seddighzadeh, M ^b   Oturai, A ^c   Sorensen P S ^c   Lorentzen, A R ^d,e   Celius, E G ^d   Leppa V ^f,g   Koivisto, K ^h   Tienari, P J ^g,i   Alfredsson, L ^b   Padyukov, L ^b   Hillert, J ^b   Kockum, I ^a   Jagodic, M ^a   Olsson, T ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c Mental Health Services CPH   (Denmark)

^d ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^e OSLO UNIVERSITY HOSPITAL   (Norway)

^f NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^g UNIVERSITY OF HELSINKI   (Finland)

^h SEINÄJOKI CENTRAL HOSPITAL   (Finland)

ⁱ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

AIL; Chemokine; Experimental autoimmune encephalomyelitis; Meta analysis; Multiple sclerosis; Rheumatoid arthritis

Indexed keywords

BETA CHEMOKINE; EOTAXIN; MONOCYTE CHEMOTACTIC PROTEIN 1; MONOCYTE CHEMOTACTIC PROTEIN 2; MONOCYTE CHEMOTACTIC PROTEIN 4; MYELIN OLIGODENDROCYTE GLYCOPROTEIN;

ALLERGIC ENCEPHALOMYELITIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE CLUSTER; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HLA SYSTEM; LINKAGE ANALYSIS; MALE; MULTIPLE SCLEROSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; RHEUMATOID ARTHRITIS; SEQUENCE HOMOLOGY;

RATTUS;

EID: 77649342850     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2009.82     Document Type: Article

References (79)

1. Jersild C, Hansen G, Svejgaard A, Fog T, Thomsen M, Dupont B. Histocompatibility determinants in multiple sclerosis, with special reference to clinical course. The Lancet 1973; 302: 1221-1225.
2. Hillert J, Olerup O. Multiple sclerosis is associated with genes within or close to the HLA-DR-DQ subregion on a normal DR15,DQ6,Dw2 haplotype. Neurology 1993; 43: 163-168.
3. Lincoln MR, Montpetit A, Cader MZ, Saarela J, Dyment DA, Tiislar M et al. A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet 2005; 37: 1108-1112.
4. Lundmark F, Duvefelt K, Iacobaeus E, Kockum I, Wallstrom E, Khademi M et al. Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nat Genet 2007; 39: 1108-1113.
5. International Multiple Sclerosis Genetics Consortium, Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ et al. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007; 357: 851-862.
6. Anaya JM, Gomez L, Castiblanco J. Is there a common genetic basis for autoimmune diseases? Clin Dev Immunoly 2006; 13: 185-195.
7. Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G et al. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005; 76: 528-537.
8. Sigurdsson S, Padyukov L, Kurreeman FA, Liljedahl U, Wiman AC, Alfredsson L et al. Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. Arthritis Rheum 2007; 56: 2202-2210.
9. Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurds-son S, Louis E et al. An insertion-deletion polymorphism in the interferon regulatory factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum Mol Genet 2007; 16: 3008-3016.
10. Kristjansdottir G, Sandling JK, Bonetti A, Roos IM, Milani L, Wang C et al. Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet 2008; 45: 362-369.
11. International Multiple Sclerosis Genetics Consortium. The expanding genetic overlap between multiple sclerosis and type I diabetes. Genes Immun 2009; 10: 11-14.
12. Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007; 39: 857-864.
13. Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT et al. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature 2007; 448: 591-594. (Pubitemid 47206935)
14. Zoledziewska M, Costa G, Pitzalis M, Cocco E, Melis C, Moi L et al. Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Genes Immun 2009; 10: 15-17.
15. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423: 506-511. (Pubitemid 36648570)
16. Yokoi N, Komeda K, Wang HY, Yano H, Kitada K, Saitoh Y et al. Cblb is a major susceptibility gene for rat type 1 diabetes mellitus. Nat Genet 2002; 31: 391-394.
17. Dahlman I, Wallstrom E, Weissert R, Storch M, Kornek B, Jacobsson L et al. Linkage analysis of myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis in the rat identifies a locus controlling demyelination on chromosome 18. Hum Mol Genet 1999; 8: 2183-2190. (Pubitemid 29525332)
18. Jagodic M, Kornek B, Weissert R, Lassmann H, Olsson T, Dahlman I. Congenic mapping confirms a locus on rat chromosome 10 conferring strong protection against myelin oligodendrocyte glycoprotein-induced experimental autoimmune encephalomyelitis. Immunogenetics 2001; 53: 410-415.
19. Jagodic M, Becanovic K, Sheng JR, Wu X, Bäckdahl L, Lorentzen JC et al. An advanced intercross line resolves Eae18 into two narrow quantitative trait loci syntenic to multiple sclerosis candidate loci. J Immunol 2004; 173: 1366-1373.
20. Furuya T, Salstrom JL, McCall-Vining S, Cannon GW, Joe B, Remmers EF et al. Genetic dissection of a rat model for rheumatoid arthritis: significant gender influences on auto-somal modifier loci. Hum Mol Genet 2000; 9: 2241-2250.
21. Joe B, Cannon GW, Griffiths MM, Dobbins DE, Gulko PS, Wilder RL et al. Evaluation of quantitative trait loci regulating severity of mycobacterial adjuvant-induced arthritis in mono-congenic and polycongenic rats: identification of a new regulatory locus on rat chromosome 10 and evidence of overlap with rheumatoid arthritis susceptibility loci. Arthritis Rheum 2002; 46: 1075-1085.
22. Joe B, Remmers EF, Dobbins DE, Salstrom JL, Furuya T, Dracheva S et al. Genetic dissection of collagen-induced arthritis in chromosome 10 quantitative trait locus speed congenic rats: evidence for more than one regulatory locus and sex influences. Immunogenetics 2000; 51: 930-944.
23. The Transatlantic Multiple Sclerosis Genetics Cooperative. A meta-analysis of genomic screens in multiple sclerosis. Mult Scler 2001; 7: 3-11.
24. Griffiths-Johnson DA, Collins PD, Rossi AG, Jose PJ, Williams TJ. The chemokine, eotaxin, activates guinea-pig eosinophils in vitro and causes their accumulation into the lung in vivo. Biochem Biophys Res Commun 1993; 197: 1167-1172.
25. Glabinski AR, Tani M, Tuohy VK, Tuthill RJ, Ransohoff RM. Central nervous system chemokine mRNA accumulation follows initial leukocyte entry at the onset of acute murine experimental autoimmune encephalomyelitis. Brain, Behav Immun 1995; 9: 315-330.
26. McManus C, Berman JW, Brett FM, Staunton H, Farrell M, Brosnan CF. MCP-1, MCP-2 and MCP-3 expression in multiple sclerosis lesions: an immunohistochemical and in situ hybridization study. J Neuroimmunol 1998; 86: 20-29.
27. Dos Santos AC, Barsante MM, Arantes RM, Bernard CC, Teixeira MM, Carvalho-Tavares J. CCL2 and CCL5 mediate leukocyte adhesion in experimental autoimmune encephalo-myelitis\an intravital microscopy study. J Neuroimmunol 2005; 162: 122-129.
28. Banisor I, Leist T, Kalman B. Involvement of beta-chemokines in the development of inflammatory demyelination. J Neuroin-flammation 2005; 2: 7.
29. 2-chemokines in 17q11 are associated with multiple sclerosis: a second phase study. Hum Genet 2005; V118: 67.
30. Vyshkina T, Shugart YY, Birnbaum G, Leist TP, Kalman B. Association of haplotypes in the [beta]-chemokine locus with multiple sclerosis. Eur J Hum Genet 2004; 13: 240.
31. Bugeja MJ, Booth D, Bennetts B, Heard R, Rubio J, Stewart G. An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians. BMC Med Genet 2006; 7: 64.
32. Vyshkina T, Sylvester A, Sadiq S, Bonilla E, Perl A, Kalman B. CCL genes in multiple sclerosis and systemic lupus erythe-matosus. J Neuroimmunol 2008; 200: 145-152.
33. Darvasi A. Experimental strategies for the genetic dissection of complex traits in animal models. Nat Genet 1998; 18: 19.
34. Ockinger J, Serrano-Fernandez P, Moller S, Ibrahim SM, Olsson T, Jagodic M. Definition of a 1.06-Mb region linked to neuroinflammation in humans, rats and mice. Genetics 2006; 173: 1539-1545.
35. Amor S, Groome N, Linington C, Morris MM, Dornmair K, Gardinier MV et al. Identification of epitopes of myelin oligodendrocyte glycoprotein for the induction of experimental allergic encephalomyelitis in SJL and Biozzi AB/H mice. J Immunol 1994; 153: 4349-4356.
36. Laird PW, Zijderveld A, Linders K, Rudnicki MA, Jaenisch R, Berns A. Simplified mammalian DNA isolation procedure. Nucleic Acids Res 1991; 19: 4293.
37. Jacob HJ, Brown DM, Bunker RK, Daly MJ, Dzau VJ, Goodman A et al. A genetic linkage map of the laboratory rat, Rattus norvegicus. Nat Genet 1995; 9: 63.
38. Broman KW, Wu H, Sen S, Churchill GA. R/qtl: QTL mapping in experimental crosses. Bioinformatics (Oxford, England) 2003; 19: 889-890.
39. Manichaikul A, Dupuis J, Sen S, Broman KW. Poor performance of bootstrap confidence intervals for the location of a quantitative trait locus. Genetics 2006; 174: 481-489.
40. McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin FD et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001; 50: 121-127.
41. Roos IM, Kockum I, Hillert J. The interleukin 23 receptor gene in multiple sclerosis: a case-control study. J Neuroimmunol 2008; 194: 173-180.
42. Poser CM, Paty DW, Scheinberg L, McDonald WI, Davis FA, Ebers GC et al. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983; 13: 227-231.
43. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988; 31: 315-324.
44. Klareskog L, Stolt P, Lundberg K, Kallberg H, Bengtsson C, Grunewald J et al. A new model for an etiology of rheumatoid arthritis: smoking may trigger HLA-DR (shared epitope)-restricted immune reactions to autoantigens modified by citrullination. Arthritis Rheum 2006; 54: 38-46.
45. Stolt P, Bengtsson C, Nordmark B, Lindblad S, Lundberg I, Klareskog L et al. Quantification of the influence of cigarette smoking on rheumatoid arthritis: results from a population based case-control study, using incident cases. Ann Rheum Dis 2003; 62: 835-841.
46. Gonzalez JR, Armengol L, Sole X, Guino E, Mercader JM, Estivill X et al. SNPassoc: an R package to perform whole genome association studies. Bioinformatics (Oxford, England) 2007; 23: 644-645.
47. R Development Core Team. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing: Vienna, 2009.
48. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (Oxford, England) 2005; 21: 263-265.
49. Dudbridge F. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data. Hum Hered 2008; 66: 87-98.
50. Darvasi A, Soller M. Advanced intercross lines, an experimental population for fine genetic mapping. Genetics 1995; 141: 1199.
51. Kennedy KJ, Strieter RM, Kunkel SL, Lukacs NW, Karpus WJ. Acute and relapsing experimental autoimmune encephalo-myelitis are regulated by differential expression of the CC chemokines macrophage inflammatory protein-1alpha and monocyte chemotactic protein-1. J Neuroimmunol 1998; 92: 98-108.
52. Jee Y, Yoon WK, Okura Y, Tanuma N, Matsumoto Y. Upregulation of monocyte chemotactic protein-1 and CC chemokine receptor 2 in the central nervous system is closely associated with relapse of autoimmune encephalomyelitis in Lewis rats. J Neuroimmunol 2002; 128: 49-57.
53. Woolf B. On estimating the relation between blood group and disease. Ann Hum Genet 1955; 19: 251-253.
54. Brynedal B, Duvefelt K, Jonasdottir G, Roos IM, Akesson E, Palmgren J et al. HLA-A confers an HLA-DRB1 independent influence on the risk of multiple sclerosis. PLoS ONE 2007; 2: e664.
55. Modin H, Olsson W, Hillert J, Masterman T. Modes of action of HLA-DR susceptibility specificities in multiple sclerosis. Am J Hum Genet 2004; 74: 1321-1322.
56. Barcellos LF, Oksenberg JR, Begovich AB, Martin ER, Schmidt S, Vittinghoff E et al. HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am J Hum Genet 2003; 72: 710-716.
57. Roxburgh RH, Seaman SR, Masterman T, Hensiek AE, Sawcer SJ, Vukusic S et al. Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity. Neurology 2005; 64: 1144-1151.
58. Haringman JJ, Smeets TJ, Reinders-Blankert P, Tak PP. Chemokine and chemokine receptor expression in paired peripheral blood mononuclear cells and synovial tissue of patients with rheumatoid arthritis, osteoarthritis, and reactive arthritis. Ann Rheum Dis 2006; 65: 294-300.
59. Koch AE, Kunkel SL, Harlow LA, Johnson B, Evanoff HL, Haines GK et al. Enhanced production of monocyte chemoat-tractant protein-1 in rheumatoid arthritis. J Clin Invest 1992; 90: 772-779.
60. González-Escribano MF, Torres B, Aguilar F, Rodŕiguez R, Ǵarćia A, Valenzuela A et al. MCP-1 promoter polymorphism in Spanish patients with rheumatoid arthritis. Hum Immunol 2003; 64: 741-744.
61. Iwamoto T, Okamoto H, Kobayashi S, Ikari K, Toyama Y, Tomatsu Tet al. A role of monocyte chemoattractant protein-4 (MCP-4)/CCL13 from chondrocytes in rheumatoid arthritis. FEBS J 2007; 274: 4904-4912.
62. Iwamoto T, Okamoto H, Iikuni N, Takeuchi M, Toyama Y, Tomatsu T et al. Monocyte chemoattractant protein-4 (MCP-4)/CCL13 is highly expressed in cartilage from patients with rheumatoid arthritis. Rheumatology (Oxford, England) 2006; 45: 421-424.
63. Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B et al. TRAF1-C5 as a risk locus for rheumatoid arthritis\a genomewide study. N Engl J Med 2007; 357: 1199-1209.
64. Miyagishi R, Kikuchi S, Takayama C, Inoue Y, Tashiro K. Identification of cell types producing RANTES, MIP-1 alpha and MIP-1 beta in rat experimental autoimmune encephalomyelitis by in situ hybridization. J Neuroimmunol 1997; 77: 17-26.
65. Crown SE, Yu Y, Sweeney MD, Leary JA, Handel TM. Heterodimerization of CCR2 chemokines and regulation by glycosaminoglycan binding. J Biol Chem 2006; 281: 25438-25446.
66. Alioglu E, Turk U, Cam S, Abbasaliyev A, Tengiz I, Ercan E. Polymorphisms of the methylenetetrahydrofolate reductase, vascular endothelial growth factor, endothelial nitric oxide synthase, monocyte chemoattractant protein-1 and apolipo-protein E genes are not associated with carotid intima-media thickness. Can J Cardiol 2009; 25: e1-e5.
67. McDermott DH, Yang Q, Kathiresan S, Cupples LA, Massaro JM, Keaney Jr JF et al. CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study. Circulation 2005; 112: 1113-1120.
68. Rigoli L, Caminiti L, Di Bella C, Procopio V, Cuppari C, Vita D et al. Investigation of the eotaxin gene \426C-T, \384A-G and 67G-a single-nucleotide polymorphisms and atopic dermatitis in Italian children using family-based association methods. Clin Exp Dermatol 2008; 33: 316-321.
69. Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths CE et al. Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. Arthritis Rheum 2005; 52: 1694-1699.
70. Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005; 76: 561-571.
71. Begovich AB, Caillier SJ, Alexander HC, Penko JM, Hauser SL, Barcellos LF et al. The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet 2005; 76: 184-187.
72. De Jager PL, Sawcer S, Waliszewska A, Farwell L, Wild G, Cohen A et al. Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis. Eur J Hum Genet 2006; 14: 317-321.
73. Maier LM, Lowe CE, Cooper J, Downes K, Anderson DE, Severson C et al. IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production. PLoS Genet 2009; 5: e1000322.
74. Sorensen TL, Tani M, Jensen J, Pierce V, Lucchinetti C, Folcik VA et al. Expression of specific chemokines and chemokine receptors in the central nervous system of multiple sclerosis patients. J Clin Invest 1999; 103: 807-815.
75. Sindern E, Niederkinkhaus YM, Henschel LM, Ossege T, Patzold J, Malin P. Differential release of beta-chemokines in serum and CSF of patients with relapsing-remitting multiple sclerosis. Acta Neurol Scand 2001; 104: 88-91.
76. Tanuma N, Sakuma H, Sasaki A, Matsumoto Y Chemokine expression by astrocytes plays a role in microglia/macrophage activation and subsequent neurodegeneration in secondary progressive multiple sclerosis. Acta Neuropathologi-ca 2006; 112: 195-204.
77. Cantor J, Haskins K. Recruitment and activation of macrophages by pathogenic CD4 T cells in type 1 diabetes: evidence for involvement of CCR8 and CCL1. J Immunol 2007; 179: 5760-5767.
78. Barinka C, Prahl A, Lubkowski J. Structure of human monocyte chemoattractant protein 4 (MCP-4/CCL13). Acta Crystallographica 2008; 64 (Part 3): 273-278.
79. Pigard N, Elovaara I, Kuusisto H, Paalavuo R, Dastidar P, Zimmermann K et al. Therapeutic activities of intravenous immunoglobulins in multiple sclerosis involve modulation of chemokine expression. J Neuroimmunol 2009; 209: 114-120.