medigraphic.com
A partir del año 2010, la Revista Oficial del INER cambió a NCT (Neumología y Cirugía de Tórax)

 Ver actualización

2004, Number 2

<< Back Next >>

Rev Inst Nal Enf Resp Mex 2004; 17 (2)

MHC: Genetic polymorphisms in autoimmunity

Falfán-Valencia R

Language: Spanish
References: 40
Page: 126-134
PDF size: 78.21 Kb.


ABSTRACT

Autoimmune diseases are characterized by inflammation and by the development and maintenance of antibodies and T lymphocytes against “self” antigens. Although the etiology of these diseases is unknown, they have a number of cellular and molecular mechanisms in common. A strong genetic association exists between a number of autoimmune diseases such as rheumatoid arthritis, multiple sclerosis, and insulin-dependent diabetes mellitus (IDDM) and the expression of certain alleles or haplotypes of the major histocompatibility complex (MHC). The current explanation for this association proposes that disease-associated MHC molecules efficiently bind autoantigens involved in the pathophysiology of the disease. This results in a peripheral T cell-mediated immune response to the autoantigens and autoimmune sequelae. Individual susceptibility to autoimmune diseases may be determined by a combination of specific polymorphisms of genes encoding multiple cytokines, MHC antigens, adhesion molecules, and cellular proteins. This condition may lead to abnormal expression of immunoregulatory molecules and finally result in the development or exacerbation of the disease. Recently, the role of viral sequences in the pathogenesis of autoimmunity has been discussed, mainly involved in molecular mimicry.


REFERENCES

  1. Rudd PM, Elliott T, Cresswell P, Wilson IA, Dwek RA. Glycosylation and the immune system. Science 2001;291:2370-2376.

  2. Descamps FJ, van den Steen PE, Nelissen I, van Damme J, Opdenakker G. Remnant epitopes generate autoimmunity: from rheumatoid arthritis and multiple sclerosis to diabetes. Adv Exp Med Biol 2003;535:69-77.

  3. Parham P. Pictures of MHC restriction. Nature 1996;348:109-110.

  4. Ridgway WM, Fassó M, Fathman CG. A new look at MHC and autoimmune disease. Science 1999;238:749-751.

  6. Fischer A, Malissen B. Natural and engineered disorders of lymphocyte development. Science 1998;280: 237-243.

  7. Ohashi PS, Oehen S, Buerki K, Pircher H, Ohashi CT, Odermatt B, et al. Ablation of “tolerance” and induction of diabetes by virus infection in viral antigen transgenic mice. Cell 1991;65:305-317.

  8. Parijs LV, Abbas AK. Homeostasis and self-tolerance in the immune system: Turning lymphocytes off. Science 1998;280:243-249.

  9. Dupont B. The HLA system: An introduction. In: Lee J, editor. The HLA system: A new approach. USA: Springer-Verlag; 1995. p. 3-5.

  10. MHC sequencing consortium. Complete sequence and gene map of a human major histocompatibility complex (MHC). Nature 1999;401:921-923.

  11. Beck S, Trowsdale J. The human major histocompatibility complex: Lessons from the DNA sequence. Annu Rev Genomics Hum Genet 2000;01:117-137.

  12. Marsh SGE, Albert ED, Bodmer WF, Bontrop RE, Dupont B, Erlich HA, et al. Nomenclature for factors of the HLA system, 2002. Tissue Antigens 2002;60: 407-464.

  13. Marsh SGE, Albert ED, Bodmer WF, Bontrop RE, Dupont B, Erlich HA, et al. Nomenclature for factors of the HLA system, 2002. Eur J Immunogenetics 2002;29:463-515.

  14. Marsh SGE, Albert ED, Bodmer WF, Bontrop RE, Dupont B, Erlich HA, et al. Nomenclature for factors of the HLA system, 2002. Hum Immunol 2002;63: 1213-1268.

  15. Marsh SGE, Albert ED, Bodmer WF, Bontrop RE, Dupont B, Erlich HA, et al. Nomenclature for factors of the HLA system, 2000. Tissue Antigens 2001;57: 236-283.

  16. Marsh SGE, Albert ED, Bodmer WF, Bontrop RE, Dupont B, Erlich HA, et al. Nomenclature for factors of the HLA system, 2000. Eur J Immunogenetics 2001;28:377-424.

  17. Marsh SGE, Albert ED, Bodmer WF, Bontrop RE, Dupont B, Erlich HA, et al. Nomenclature for factors of the HLA system, 2000. Hum Immunol 2001;62:419-468.

  18. Gebe JA, Swanson E, Kwok WW. HLA class II peptide-binding and autoimmunity. Tissue Antigens 2002;59:78-87.

  19. Todd JA, Farral M. Panning for the gold: genome wide scanning linkage in type 1 diabetes. Hum Mol Genet 1996;5:1443-1448.

  20. Undlien DE, Lie BA, Thorsby E. HLA complex genes in type 1 diabetes and other autoimmune diseases. Which genes are involved? Trends Genet 2001;17:93-100.

  21. Lie BA, Todd JA, Pociot F, Nerup J, Akselsen HE, Joner G, et al. The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. Am J Hum Genet 1999;64:793-800.

  22. Sonderstrup G, McDevitt HO. DR, DQ, and you: MHC alleles and autoimmunity. J Clin Invest 2001;107:795-796.

  23. Turesson C. Endothelial expression of MHC class II molecules in autoimmune disease. Curr Pharm Des 2004;10:129-143.

  24. Stewart CA, Horton R, Allcock RJ, Ashurst JL, Atrazhev AM, Coggill P, et al. Complete MHC haplotype sequencing for common disease gene mapping. Genome Res 2004;14:1176-1187.

  25. Tait BD, Colman PG, Morahan G, Marchinovska L, Dore E, Gellert S, et al. HLA genes associated with autoimmunity and progression to disease in type 1 diabetes. Tissue Antigens 2003;61:146-153.

  26. Taneja V, Griffiths MM, Luthra H, David CS. Modulation of HLA-DO-restricted-colagen induced arthritis by HLA-DRB1 polymorphism. Int Immunol 1998;10: 1449-1457.

  27. Das P. Complementation between specific HLA-DR and HLA-DQ genes in transgenic mice determines susceptibility to experimental autoimmune encephalomyelitis. Hum Immunol 2000;61:279-289.

  28. Abraham RS, Kudva YC, Wilson SB, Strominger JL, David CS. Coexpression of spontaneous insulitis and loss of tolerance to GAD65 in transgenic mice. Diabetes 2000;49:548-554.

  29. Wong FS, Wen L. The study of HLA class II and autoimmune diabetes. Curr Mol Med 2003;3:1-15.

  30. 29.Lie BA, Ronningen KS, Akselsen HE, Thorsby E, Undlien DE. Application and interpretation of transmission/disequilibrium tests: transmission of HLA-DQ haplotypes to unaffected siblings in 526 families with type 1 diabetes. Am Hum Genet 2000;66:740-743.

  31. Redondo MJ, Kawasaki E, Mulgrew CL, Noble JA, Erlich HA, Freed BM, et al. DR-and DQ-associated protection from type 1A diabetes: Comparison of DRB1*1401 and DQA1*0102-DQB1*0602*. JCE & M 2000;85:3793-3797.

  32. Johansson S, Lie BA, Todd JA, Pociot F, Nerup J, Cambon-Thomsen A, et al. Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and -ARB1. Genes Immun 2003;4:46-53.

  33. Johansson S, Lie Ba, Pociot F, Nerup J, Cambon-Thomsen A, Kockum I, et al. HLA associations in type 1 diabetes: DPB1 alleles may act as markers of other HLA-complex susceptibility genes. Tissue Antigens 2003;61:344-351.

  34. Wucherpfennig KW. Structural basis of molecular mimicry. J Autoimmun 2001;16:293-302.

  35. Massa M, Mazzoli F, Pignatti P, de Benedetti F, Passalia M, Viola S, et al. Proinflammatory responses to self HLA epitopes are triggered by molecular mimicry to Epstein-Barr virus proteins in oligoarticular juvenile idiopathic arthritis. Arthritis Rheum 2002;46:2721-2729.

  36. Fourneau JM, Bach JM, van Endert PM, Bach JF. The elusive case for a role of mimicry in autoimmune diseases. Mol Immunol 2004;40:1095-1102.

  37. Vogel A, Manns MP, Strassburg CP. Autoimmunity and viruses. Clin Liver Dis 2002;6:451-465.

  38. Pender MP. Infection of autoreactive B lymphocytes with EBV, causing chronic autoimmune diseases. Trends Immunol 2003;24:584-588.

  39. Urnovitz HB, Murphy WH. Human endogenous retroviruses: natural, occurrence and clinical implications in human diseases. Clin Microbiol Rev 1996;1:72-99.

  40. Osmola A, Namysl J, Jagodzinski PP, Prokop J. Genetic background of cutaneous forms of lupus erythematosus: update on current evidence. J Appl Genet 2004;45:77-86.




2020     |     www.medigraphic.com