HLA, PTPN22 and PD-1 associations as markers of autoimmunity in neuromyelitis optica

Multiple Sclerosis Journal

Volumn 18, Issue 1, 2012, Pages 23-30

  Asgari, N ^a,b   Nielsen, C ^c   Stenager, E ^a,b   Kyvik, K O ^b   Lillevang, S T ^c  

^a Multiple Sclerosis Clinic of Southern Jutland   (Denmark)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

anti aquaporin 4; Caucasians; genetic; HLA; multiple sclerosis; neuromyelitis optica

Indexed keywords

AQUAPORIN 4; AUTOANTIBODY; DNA; HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE NON RECEPTOR 22; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNITY; CAUCASIAN; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HLA SYSTEM; HLA TYPING; HUMAN; MALE; MULTIPLE SCLEROSIS; MYELOOPTIC NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84855952355     PISSN: 13524585     EISSN: 14770970     Source Type: Journal    
DOI: 10.1177/1352458511417480     Document Type: Article

References (40)

1. Lennon VA, Kryzer TJ, Pittock SJ, Verkman AS, Hinson SR. IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med. 2005 ; 202: 473-477 (Pubitemid 41186945)
2. Asgari N, Owens T, Frokiaer J, Stenager E, Lillevang ST, Kyvik KO. Neuromyelitis optica (NMO)-an autoimmune disease of the central nervous system (CNS). Acta Neurol Scand. 2011 ; 123: 369-384
3. Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF, Weinshenker BG. Revised diagnostic criteria for neuromyelitis optica. Neurology. 2006 ; 66: 1485-1489 (Pubitemid 43958540)
4. Lucchinetti CF, Mandler RN, McGavern D, Bruck W, Gleich G, Ransohoff RM, et al. A role for humoral mechanisms in the pathogenesis of Devic's neuromyelitis optica. Brain. 2002 ; 125: 1450-1461 (Pubitemid 34755161)
5. Roemer SF, Parisi JE, Lennon VA, Benarroch EE, Lassmann H, Bruck W, et al. Pattern-specific loss of aquaporin-4 immunoreactivity distinguishes neuromyelitis optica from multiple sclerosis. Brain. 2007 ; 130: 1194-1205 (Pubitemid 47355941)
6. Fernando MM, Stevens CR, Walsh EC, De Jager PL, Goyette P, Plenge RM, et al. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet. 2008 ; 4: e1000024
7. 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
8. 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 (Pubitemid 36255969)
9. Brum DG, Barreira AA, dos Santos AC, Kaimen-Maciel DR, Matiello M, Costa RM, et al. HLA-DRB association in neuromyelitis optica is different from that observed in multiple sclerosis. Mult Scler. 2010 ; 16: 21-29
10. Zephir H, Fajardy I, Outteryck O, Blanc F, Roger N, Fleury M, et al. Is neuromyelitis optica associated with human leukocyte antigen?. Mult Scler. 2009 ; 15: 571-579
11. Deschamps R, Paturel L, Jeannin S, Chausson N, Olindo S, Bera O, et al. Different HLA class II (DRB1 and DQB1) alleles determine either susceptibility or resistance to NMO and multiple sclerosis among the French Afro-Caribbean population. Mult Scler. 2011 ; 17: 24-31
12. Matsushita T, Matsuoka T, Isobe N, Kawano Y, Minohara M, Shi N, et al. Association of the HLA-DPB1*0501 allele with anti-aquaporin-4 antibody positivity in Japanese patients with idiopathic central nervous system demyelinating disorders. Tissue Antigens. 2009 ; 73: 171-176
13. Yamasaki K, Horiuchi I, Minohara M, Kawano Y, Ohyagi Y, Yamada T, et al. HLA-DPB1*0501-associated opticospinal multiple sclerosis: clinical, neuroimaging and immunogenetic studies. Brain. 1999 ; 122 (Pt 9). 1689-1696 (Pubitemid 29425672)
14. Pittock SJ, Lennon VA, de SJ, Vermersch P, Homburger HA, Wingerchuk DM, et al. Neuromyelitis optica and non organ-specific autoimmunity. Arch Neurol. 2008 ; 65: 78-83
15. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet. 2004 ; 75: 330-337 (Pubitemid 38943877)
16. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004 ; 75: 504-507 (Pubitemid 39095825)
17. Nielsen C, Hansen D, Husby S, Lillevang ST. Sex-specific association of the human PTPN22 1858-T-allele with type 1 diabetes. Int J Immunogenet. 2007 ; 34: 469-473 (Pubitemid 350126016)
18. Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab. 2004 ; 89: 5862-5865 (Pubitemid 39518482)
19. Okazaki T, Wang J. PD-1/PD-L pathway and autoimmunity. Autoimmunity. 2005 ; 38: 353-357 (Pubitemid 41358665)
20. Kroner A, Mehling M, Hemmer B, Rieckmann P, Toyka KV, Maurer M, et al. A PD-1 polymorphism is associated with disease progression in multiple sclerosis. Ann Neurol. 2005 ; 58: 50-57 (Pubitemid 40962460)
21. Nielsen C, Laustrup H, Voss A, Junker P, Husby S, Lillevang ST. A putative regulatory polymorphism in PD-1 is associated with nephropathy in a population-based cohort of systemic lupus erythematosus patients. Lupus. 2004 ; 13: 510-516 (Pubitemid 39071204)
22. Asgari N, Lillevang ST, Skejoe HP, Falah M, Stenager E, Kyvik KO. A population-based study of neuromyelitis optica in Caucasians. Neurology. 2011 ; 76: 1589-1595
23. Barkhof F, Filippi M, Miller DH, Scheltens P, Campi A, Polman CH, et al. Comparison of MRI criteria at first presentation to predict conversion to clinically definite multiple sclerosis. Brain. 1997 ; 120 (Pt 11). 2059-2069 (Pubitemid 27493740)
24. 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
25. Wingerchuk DM, Lennon VA, Lucchinetti CF, Pittock SJ, Weinshenker BG. The spectrum of neuromyelitis optica. Lancet Neurol. 2007 ; 6: 805-815 (Pubitemid 47238676)
26. Dahlbom I, Korponay-Szabo IR, Kovacs JB, Szalai Z, Maki M, Hansson T. Prediction of clinical and mucosal severity of coeliac disease and dermatitis herpetiformis by quantification of IgA/IgG serum antibodies to tissue transglutaminase. J Pediatr Gastroenterol Nutr. 2010 ; 50: 140-146
27. Matiello M, Kim HJ, Kim W, Brum DG, Barreira AA, Kingsbury DJ, et al. Familial neuromyelitis optica. Neurology. 2010 ; 75: 310-315
28. Erlich H, Valdes AM, Noble J, Carlson JA, Varney M, Concannon P, et al. HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families. Diabetes. 2008 ; 57: 1084-1092
29. Saila H, Pitkaniemi J, Tuomilehto J, Savolainen A, Alakulppi N, Tuomilehto-Wolf E, et al. HLA and susceptibility to juvenile idiopathic arthritis: a study of affected sibpairs in an isolated Finnish population. JRheumatol. 2004 ; 31: 2281-2285 (Pubitemid 39453251)
30. Underhill J, Donaldson P, Bray G, Doherty D, Portmann B, Williams R. Susceptibility to primary biliary cirrhosis is associated with the HLA-DR8-DQB1*0402 haplotype. Hepatology. 1992 ; 16: 1404-1408
31. Ittah M, Gottenberg JE, Proust A, Hachulla E, Puechal X, Loiseau P, et al. No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjogren's syndrome. Genes Immun. 2005 ; 6: 457-458 (Pubitemid 43101635)
32. Jersild C, Dupont B, Fog T, Hansen GS, Nielsen LS, Thomsen M, et al. Histocompatibility-linked immune-response determinants in multiple sclerosis. Transplant Proc. 1973 ; 5: 1791-1796
33. Mustelin T, Abraham RT, Rudd CE, Alonso A, Merlo JJ. Protein tyrosine phosphorylation in T cell signaling. Front Biosci. 2002 ; 7: d918 - d969
34. 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 (Pubitemid 40023779)
35. Ramanujam R, Zhao Y, Pirskanen R, Hammarstrom L. Lack of association of the CIITA - 168 A→G promoter SNP with myasthenia gravis and its role in autoimmunity. BMC Med Genet. 2010 ; 11: 147
36. Sharpe AH, Wherry EJ, Ahmed R, Freeman GJ. The function of programmed cell death 1 and its ligands in regulating autoimmunity and infection. Nat Immunol. 2007 ; 8: 239-245 (Pubitemid 46745373)
37. Nishimura H, Nose M, Hiai H, Minato N, Honjo T. Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor. Immunity. 1999 ; 11: 141-151 (Pubitemid 29428807)
38. Wang J, Yoshida T, Nakaki F, Hiai H, Okazaki T, Honjo T. Establishment of NOD-Pdcd1-/- mice as an efficient animal model of type I diabetes. Proc Natl Acad Sci U S A. 2005 ; 102: 11823-11828 (Pubitemid 41170809)
39. Wang C, Li Y, Proctor TM, Vandenbark AA, Offner H. Down-modulation of programmed death 1 alters regulatory T cells and promotes experimental autoimmune encephalomyelitis. J Neurosci Res. 2010 ; 88: 7-15
40. Trabattoni D, Saresella M, Pacei M, et al. Costimulatory pathways in multiple sclerosis: distinctive expression of PD-1 and PD-L1 in patients with different patterns of disease. J Immunol. 2009 ; 183: 4984-4993