Molecular mechanisms for contribution of MHC molecules to autoimmune diseases

Current Opinion in Immunology

Volumn 31, Issue , 2014, Pages 24-30

  Sollid, Ludvig M ^a   Pos, Wouter ^b   Wucherpfennig, Kai W ^b,c  

^a UNIVERSITY OF OSLO   (Norway)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CYCLIC CITRULLINATED PEPTIDE ANTIBODY; HLA A1 ANTIGEN; HLA B27 ANTIGEN; HLA B8 ANTIGEN; HLA DQ2 ANTIGEN; HLA DQA1 ANTIGEN; HLA DR3 ANTIGEN; HLA DRB1 ANTIGEN; INTERLEUKIN 17; INTERLEUKIN 23; MAJOR HISTOCOMPATIBILITY ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; T LYMPHOCYTE RECEPTOR; HISTOCOMPATIBILITY ANTIGEN;

ANKYLOSING SPONDYLITIS; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNE THYROIDITIS; AUTOIMMUNITY; BERYLLIOSIS; CD4+ T LYMPHOCYTE; CELIAC DISEASE; CRYSTAL STRUCTURE; ENZYME ACTIVITY; EPISTASIS; ERAP1 GENE; ERAP2 GENE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MULTIPLE SCLEROSIS; PROTEIN PROCESSING; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE; ANIMAL; GENETICS; IMMUNOLOGY; MAJOR HISTOCOMPATIBILITY COMPLEX; PATHOLOGY;

ANIMALS; AUTOIMMUNE DISEASES; HISTOCOMPATIBILITY ANTIGENS; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX;

EID: 84921470210     PISSN: 09527915     EISSN: 18790372     Source Type: Journal    
DOI: 10.1016/j.coi.2014.08.005     Document Type: Review

References (50)

1. Nejentsev S, Howson JM, Walker NM, Szeszko J, Field SF, Stevens HE, Reynolds P, Hardy M, King E, Masters J et al.: Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 2007, 450:887-892.
2. International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z et al.: Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 2011, 476:214-219.
3. Patsopoulos NA, Barcellos LF, Hintzen RQ, Schaefer C, van Duijn CM, Noble JA, Raj T, Imsgc, Anzgene, Gourraud PA et al.: Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects. PLoS Genet 2013, 9:e1003926.
4. Morris DL, Taylor KE, Fernando MM, Nititham J, Alarcon-Riquelme ME, Barcellos LF, Behrens TW, Cotsapas C, Gaffney PM, Graham RR et al.: Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans. Am J Hum Genet 2012, 91:778-793.
5. Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, Oppermann U, Dilthey A, Pirinen M, Stone MA et al.: Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet 2011, 43:761-767.
6. International Genetics of Ankylosing Spondylitis Consortium, Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J et al.: Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet 2013, 45: 730-738.
7. Stratikos E, Stern LJ: Antigenic peptide trimming by ER aminopeptidases-insights from structural studies. Mol Immunol 2013, 55:212-219.
8. Alvarez-Navarro C, Lopez de Castro JA: ERAP1 structure, function and pathogenetic role in ankylosing spondylitis and other MHC-associated diseases. Mol Immunol 2014, 57:12-21.
9. Colbert RA, Tran TM, Layh-Schmitt G: HLA-B27 misfolding and ankylosing spondylitis. Mol Immunol 2014, 57:44-51.
10. Bowness P, Ridley A, Shaw J, Chan AT, Wong-Baeza I, Fleming M, Cummings F, McMichael A, Kollnberger S: Th17 cells expressing KIR3DL2+ and responsive to HLA-B27 homodimers are increased in ankylosing spondylitis. J Immunol 2011, 186: 2672-2680.
11. Genetic Analysis of Psoriasis Consortium, Wellcome Trust Case Control Consortium, Strange A, Capon F, Spencer CC, Knight J, Weale ME, Allen MH, Barton A, Band G et al.: A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010, 42:985-990.
12. Kirino Y, Bertsias G, Ishigatsubo Y, Mizuki N, Tugal-Tutkun I, Seyahi E, Ozyazgan Y, Sacli FS, Erer B, Inoko H et al.: Genomewide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B*51 and ERAP1. Nat Genet 2013, 45:202-207.
13. Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE et al.: Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet 2012, 44:1341-1348.
14. Bjorck S, Brundin C, Lorinc E, Lynch KF, Agardh D: Screening detects a high proportion of celiac disease in young HLAgenotyped children. J Pediatr Gastroenterol Nutr 2010, 50:49-53.
15. Han B, Diogo D, Eyre S, Kallberg H, Zhernakova A, Bowes J, Padyukov L, Okada Y, Gonzalez-Gay MA, Rantapaa-Dahlqvist S et al.: Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity. Am J Hum Genet 2014, 94:522-532.
16. Lyons PA, Rayner TF, Trivedi S, Holle JU, Watts RA, Jayne DR, Baslund B, Brenchley P, Bruchfeld A, Chaudhry AN et al.: Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med 2012, 367:214-223.
17. Morris DL, Fernando MM, Taylor KE, Chung SA, Nititham J, Alarcon-Riquelme ME, Barcellos LF, Behrens TW, Cotsapas C, Gaffney PM et al.: MHC associations with clinical and autoantibody manifestations in European SLE. Genes Immun 2014, 15:210-217.
18. Howson JM, Stevens H, Smyth DJ, Walker NM, Chandler KA, Bingley PJ, Todd JA: Evidence that HLA class I and II associations with type 1 diabetes, autoantibodies to GAD and autoantibodies to IA-2, are distinct. Diabetes 2011, 60: 2635-2644.
19. Todd JA, Bell JI, McDevitt HO: HLA-DQ beta gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 1987, 329:599-604.
20. Gregersen PK, Silver J, Winchester RJ: The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum 1987, 30:1205-1213.
21. Raychaudhuri S, Sandor C, Stahl EA, Freudenberg J, Lee HS, Jia X, Alfredsson L, Padyukov L, Klareskog L, Worthington J et al.: Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet 2012, 44:291-296.
22. Hillert J: Human leukocyte antigen studies in multiple sclerosis. Ann Neurol 1994, 36(Suppl.):S15-S17.
23. Caillier SJ, Briggs F, Cree BA, Baranzini SE, Fernandez-Vina M, Ramsay PP, Khan O, Royal W 3rd, Hauser SL, Barcellos LF et al.: Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis. J Immunol 2008, 181:5473-5480.
24. Smith KJ, Pyrdol J, Gauthier L, Wiley DC, Wucherpfennig KW: Crystal structure of HLA-DR2 (DRA*0101 DRB1*1501) complexed with a peptide from human myelin basic protein. J Exp Med 1998, 188:1511-1520.
25. Quarsten H, Paulsen G, Johansen BH, Thorpe CJ, Holm A, Buus S, Sollid LM: The P9 pocket of HLA-DQ2 (non-Aspb57) has no particular preference for negatively charged anchor residues found in other type 1 diabetes-predisposing non-Aspb57 MHC class II molecules. Int Immunol 1998, 10:1229-1236.
26. Molberg O, McAdam SN, Korner R, Quarsten H, Kristiansen C, Madsen L, Fugger L, Scott H, Noren O, RoepstorffP et al.: Tissue transglutaminase selectively modifies gliadin peptides that are recognized by gut-derived T cells in celiac disease. Nat Med 1998, 4:713-717.
27. Schellekens GA, de Jong BA, van den Hoogen FH, van de Putte LB, van Venrooij WJ: Citrulline is an essential constituent of antigenic determinants recognized by rheumatoid arthritisspecific autoantibodies. J Clin Invest 1998, 101:273-281.
28. Girbal-Neuhauser E, Durieux JJ, Arnaud M, Dalbon P, Sebbag M, Vincent C, Simon M, Senshu T, Masson-Bessiere C, Jolivet-Reynaud C et al.: The epitopes targeted by the rheumatoid arthritis-associated antifilaggrin autoantibodies are posttranslationally generated on various sites of (pro)filaggrin by deimination of arginine residues. J Immunol 1999, 162: 585-594.
29. Moeez S, John P, Bhatti A: Anti-citrullinated protein antibodies: role in pathogenesis of RA and potential as a diagnostic tool. Rheumatol Int 2013, 33:1669-1673.
30. Klareskog L, Padyukov L, Ronnelid J, Alfredsson L: Genes, environment and immunity in the development of rheumatoid arthritis. Curr Opin Immunol 2006, 18:650-655.
31. Klareskog L, Alfredsson L, Rantapaa-Dahlqvist S, Berglin E, Stolt P, Padyukov L: What precedes development of rheumatoid arthritis? Ann Rheum Dis 2004, 63(Suppl. 2): ii28-ii31.
32. Klareskog L, Stolt P, Lundberg K, Kallberg H, Bengtsson C, Grunewald J, Ronnelid J, Harris HE, Ulfgren AK, Rantapaa-Dahlqvist S 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.
33. Scally SW, Petersen J, Law SC, Dudek NL, Nel HJ, Loh KL, Wijeyewickrema LC, Eckle SB, van Heemst J, Pike RN et al.: A molecular basis for the association of the HLA-DRB1 locus, citrullination, and rheumatoid arthritis. J Exp Med 2013, 210:2569-2582.
34. van Lummel M, Duinkerken G, van Veelen PA, de Ru A, Cordfunke R, Zaldumbide A, Gomez-Tourino I, Arif S, Peakman M, Drijfhout JW et al.: Posttranslational modification of HLA-DQ binding islet autoantigens in type 1 diabetes. Diabetes 2014, 63:237-247.
35. Delong T, Baker RL, He J, Barbour G, Bradley B, Haskins K: Diabetogenic T-cell clones recognize an altered peptide of chromogranin A. Diabetes 2012, 61:3239-3246.
36. Dunne JL, Overbergh L, Purcell AW, Mathieu C: Posttranslational modifications of proteins in type 1 diabetes: the next step in finding the cure? Diabetes 2012, 61:1907-1914.
37. Doyle HA, Yang ML, Raycroft MT, Gee RJ, Mamula MJ: Autoantigens: novel forms and presentation to the immune system. Autoimmunity 2014, 47:220-233.
38. Mallal S, Phillips E, Carosi G, Molina JM, Workman C, Tomazic J, Jagel-Guedes E, Rugina S, Kozyrev O, Cid JF et al.: HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med 2008, 358:568-579.
39. Chessman D, Kostenko L, Lethborg T, Purcell AW, Williamson NA, Chen Z, Kjer-Nielsen L, Mifsud NA, Tait BD, Holdsworth R et al.: Human leukocyte antigen class I-restricted activation of CD8+ T cells provides the immunogenetic basis of a systemic drug hypersensitivity. Immunity 2008, 28:822-832.
40. Illing PT, Vivian JP, Dudek NL, Kostenko L, Chen Z, Bharadwaj M, Miles JJ, Kjer-Nielsen L, Gras S, Williamson NA et al.: Immune self-reactivity triggered by drug-modified HLA-peptide repertoire. Nature 2012, 486:554-558.
41. Ostrov DA, Grant BJ, Pompeu YA, Sidney J, Harndahl M, Southwood S, OseroffC, Lu S, Jakoncic J, de Oliveira CA et al.: Drug hypersensitivity caused by alteration of the MHC-presented self-peptide repertoire. Proc Natl Acad Sci U S A 2012, 109:9959-9964.
42. Richeldi L, Sorrentino R, Saltini C: HLA-DPB1 glutamate 69: a genetic marker of beryllium disease. Science 1993, 262: 242-244.
43. Fontenot AP, Canavera SJ, Gharavi L, Newman LS, Kotzin BL: Target organ localization of memory CD4(+) T cells in patients with chronic beryllium disease. J Clin Invest 2002, 110: 1473-1482.
44. Fontenot AP, Torres M, Marshall WH, Newman LS, Kotzin BL: Beryllium presentation to CD4+ T cells underlies diseasesusceptibility HLA-DP alleles in chronic beryllium disease. Proc Natl Acad Sci U S A 2000, 97:12717-12722.
45. Lombardi G, Germain C, Uren J, Fiorillo MT, du Bois RM, Jones-Williams W, Saltini C, Sorrentino R, Lechler R: HLA-DP allelespecific T cell responses to beryllium account for DPassociated susceptibility to chronic beryllium disease. J Immunol 2001, 166:3549-3555.
46. Clayton GM, Wang Y, Crawford F, Novikov A, Wimberly BT, Kieft JS, Falta MT, Bowerman NA, Marrack P, Fontenot AP et al.: Structural basis of chronic beryllium disease: linking allergic hypersensitivity and autoimmunity. Cell 2014, 158:132-142.
47. Bowerman NA, Falta MT, Mack DG, Wehrmann F, Crawford F, Mroz MM, Maier LA, Kappler JW, Fontenot AP: Identification of multiple public TCR repertoires in chronic beryllium disease. J Immunol 2014, 192:4571-4580.
48. Qiao SW, Christophersen A, Lundin KE, Sollid LM: Biased usage and preferred pairing of a-and b-chains of TCRs specific for an immunodominant gluten epitope in coeliac disease. Int Immunol 2014, 26:13-19.
49. Qiao SW, Raki M, Gunnarsen KS, Loset GA, Lundin KE, Sandlie I, Sollid LM: Posttranslational modification of gluten shapes TCR usage in celiac disease. J Immunol 2011, 187:3064-3071.
50. Petersen J, Montserrat V, Mujico JR, Loh KL, Beringer DX, van Lummel M, Thompson A, Mearin ML, Schweizer J, Kooy-Winkelaar Y et al.: T-cell receptor recognition of HLA-DQ2-gliadin complexes associated with celiac disease. Nat Struct Mol Biol 2014, 21:480-488.