Skip to main content

Non-MHC Genetic Polymorphisms with Functional Importance for Human Myasthenia Gravis

  • Chapter
Molecular Autoimmunity
  • 491 Accesses

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Aarli, J.A., Lefvert, A.K., and Tönder, O. (1981). Thymoma-specific antibodies in sera from patients with myasthenia gravis demonstrated by indirect haemagglutination. J. Neuroimmunol., 1, 421–427.

    Article  CAS  PubMed  Google Scholar 

  • Ã…hlberg, R., Yi, Q., Pirskanen, R., Matell, G., Swerup, C., Rieber, P., Riethmuller, G., Holm, G., and Lefvert, A.K. (1994). Treatment of myasthenia gravis with anti-CD4 antibody: Improvement correlates to changes in T cell reactivity. Neurology, 44, 1732–1737.

    PubMed  Google Scholar 

  • Askanas, V., Engel, W.K., and Alvarez, R.B. (1998). Fourteen newly recognized proteins at the human neuromuscular junction and their non-junctional accumulation in inclusion-body myositis. Ann. NY Acad. Sci., 841, 28–56.

    CAS  PubMed  Google Scholar 

  • Carlsson, B., Wallin, J., Pirskanen, R., Matell, G., and Smith, C.I.E. (1990). Different HLA DR-DQ associations in subgroups of idiopathic myasthenia gravis. Immunogenetics, 31, 285–290.

    Article  CAS  PubMed  Google Scholar 

  • Cibotti, R., Punt, J.A., Dash, K.S., Sharrow, S.O., and Singer, A. (1997). Surface molecules that drive T cell development in vitro in the absence of thymic epithelium and in the absence of lineagespecific signals. Immunity, 6, 245–255.

    Article  CAS  PubMed  Google Scholar 

  • Danling, G., Wogensen, L., Calcutt, N.A., Chunyao, X., Powell, H.C., and Sarvetnick, N. (1995). Myasthenia gravis-like syndrome induced by expression of interferon-γ in the neuromuscular junction. J. Exp. Med., 181, 547–557.

    Google Scholar 

  • Degermann, S., Suhr, C.D., Glimcher, L.H., Sprent, J., and Lo, D. (1994). B7 expression on thymic medullary epithelium correlates with epithelium-mediated depletion of Vβ5+ thymocytes. J. Immunol., 152, 3254–3263.

    CAS  PubMed  Google Scholar 

  • Dinarello, C.A. (2002). The IL-1 family and inflammatory diseases. Clin. Exp. Rheumatol., 20, 1–13.

    Google Scholar 

  • Djabiri, F., Caillat-Zucman, S., Gajdos, P., Jais, J.P., Gomez, L., Khalil, I., Charron, D., Bach, J.F., and Garchon, H.J. (1997). Association of the AChRalpha-subunit gene (CHRNA), DQA1*0101, and the DR3 haplotype in myasthenia gravis. Evidence for a three-gene disease model in a subgroup of patients. J. Autoimmun., 10, 407–413.

    Article  CAS  PubMed  Google Scholar 

  • Drachman, D.B. (1994). Myasthenia gravis. N. Engl. J. Med., 330, 1797–1810.

    Article  CAS  PubMed  Google Scholar 

  • Emilie, D., Crevon, M.C., Cohen-Kaminsky, S., Peuchnaur, M., Devergne, O., Berrih-Aknin, S., and Galanaud, P. (1991). In situ production of interleukins in hyperplastic thymus from myasthenia gravis patients. Hum. Pathol., 22, 461–468.

    Article  CAS  PubMed  Google Scholar 

  • Eng, H., Lefvert, A.K., Mellstedt, H., and Österborg, A. (1987). Human monoclonal immunoglobulins that bind the human acetylcholine receptor. Eur. J. Immunol., 17, 1867–1869.

    CAS  PubMed  Google Scholar 

  • Feldman, R.D., Hunninghake, G.W., and McArdle, W.L. (1987). Beta-adrenergic-receptor-mediated suppression of interleukin 2 receptors in human lymphocytes. J. Immunol., 139, 3355–3359.

    CAS  PubMed  Google Scholar 

  • Garchon, H.J. (2003). Genetics of autoimmune myasthenia gravis, a model for antibody-mediated autoimmunity in man. J. Autoimmun., 21, 105–110.

    Article  CAS  PubMed  Google Scholar 

  • Gigliotti, D., Lefvert, A.K., Jeddi-Tehrani, M., Esin, S., Hodara, V., Pirskanen, R,. Wigzell, H., and Andersson, R. (1996). Overexpression of selected TCR Vβ gene families within CD4+ and CD8+ T cell subsets of myasthenia gravis patients: A role for superantigens?. Mol. Med., 2, 452–459.

    CAS  PubMed  Google Scholar 

  • Goluszko, E., Hjelmström, P., Deng, C., Poussin, M.A., Ruddle, N.H., and Christadoss, P.(2001). Lymphotoxin-alpha deficiency completely protects C57BL/6 mice from developing clinical experimental autoimmune myasthenia gravis. J. Neuroimmunol., 113, 109–118.

    Article  CAS  PubMed  Google Scholar 

  • Green, S., Turki, J., Innis, M., and Liggett, S.B. (1994). Amino-terminal polymorphisms of the human β2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry, 33,.9414–9419.

    CAS  PubMed  Google Scholar 

  • Gu, D., Wogensen, L., Calcutt, N.A., Xia, C., Zhu, S., Merlie, H.S., Fox, J.P., Lindstrom, J., Powell, H.C., and Sarvetnick, N. (1995). Myasthenia gravis-like syndrome induced by expression of interferon-γ in the neuromuscular junction. J. Exp. Med., 181, 547–557.

    Article  CAS  PubMed  Google Scholar 

  • Hjelmstrom, P., Giscombe, R., Lefvert, A.K., Pirskanen, R., Kockum, I., Landin-Olsson, M., and Sanjeevi, C.B. (1995). Different HLA-DQ are positively and negatively associated in Swedish patients with myasthenia gravis. Autoimmunity, 22, 59–65.

    CAS  PubMed  Google Scholar 

  • Huang, D.R., Giscombe, R., Matell, G., Pirskanen, R., and Lefvert, A.K. (1999a). Polymorphisms at −174 and in the 3′ flanking region of interleukin-6 (IL-6) gene in patients with myasthenia gravis. J. Neuroimmunol., 101, 197–200.

    Article  CAS  PubMed  Google Scholar 

  • Huang D.R., Liu, L., Norén, K., Xia, S.Q., Trifunovic, J., Pirskanen, R., and Lefvert, A.K. (1998a). Genetic association of CTLA-4 to myasthenia gravis with thymoma. J. Neuroimmunol., 88, 192–198.

    Article  CAS  PubMed  Google Scholar 

  • Huang, D.R., Pirskanen, R., Hjelmström, P., and Lefvert, A.K. (1998b). Polymorphisms in IL-1β and IL-1 receptor antagonist genes are associated with myasthenia gravis. J. Neuroimmunol., 81, 76–81.

    Article  CAS  PubMed  Google Scholar 

  • Huang, D.R., Pirskanen, R., Matell, G., and Lefvert, A.K. (1999b). Tumour necrosis factor-α polymorphism and secretion in myasthenia gravis. J. Neuroimmunol., 94, 165–171.

    CAS  PubMed  Google Scholar 

  • Huang, D.R., Shi, F.D., Giscombe, R., Zhou, Y.H., Ljunggren, H.G., and Lefvert, A.K. (2001). Disruption of the Il-1β gene diminishes acetylcholine receptor-induced immune responses in a murine model of myasthenia gravis. Eur. J. Immunol., 31, 225–232.

    CAS  PubMed  Google Scholar 

  • Huang, D.R., Shi Qin, X., Zhou, Y.H., Pirskanen, R., Liu, L., and Lefvert, A.K. (1999c). Markers in the promotor region of Interleukin-10 (IL-10) gene in myasthenia gravis: Implications on diverse effects of IL-10 in the pathogenesis of the disease. J. Neuroimmunol., 94, 82–87.

    CAS  PubMed  Google Scholar 

  • Huang, D.R., Xia, S., Zhou, Y, Pirskanen, R., Liu, L., and Lefvert, A.K. (1999d). No evidence for Interleukin-4 gene conferring susceptibility to myasthenia gravis. J. Neuroimmunol., 92, 208–211.

    Google Scholar 

  • Huang, D.R., Zhou, Y., Giscombe, R., Pirskanen, R., and Lefvert, A.K. (2000). Dinucleotide repeat expansion in CTLA-4 gene leads to T cell hyperreactivity via the CD28 pathway in myasthenia gravis. J. Neuroimmunol., 105, 69–77.

    Article  CAS  PubMed  Google Scholar 

  • Kakoulidou, M., Ã…hlberg, R., Yi, Q., Giscombe, R., Pirskanen, R., and Lefvert, A.K. (2004). The autoimmune T and B cell repertoires in monozygotic twins discordant for myasthenia gravis. J. Neuroimmunol., 148, 183–191.

    Article  CAS  PubMed  Google Scholar 

  • Kouki, T., Sawai, Y., Gardine, C.A., Fisfalen, M.E., Alegre, M.L., and DeGroot, L.J. (2000). CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves’ disease. J. Immunol., 165, 6606–6611.

    CAS  PubMed  Google Scholar 

  • Kristiansen, O.P., Larsen, Z.M., and Pociot, F. (2000). CTLA—4 in autoimmune diseases-A general susceptibility gene to autoimmunity? Genes Immun., 1, 170–184.

    Article  CAS  PubMed  Google Scholar 

  • Lalani, I., Bhol, K., and Ahmed, A.R. (1997). Interleukin-10: Biology, role in inflammation and autoimmunity. Ann. Allergy Asthma Immunol., 79, 469–483.

    CAS  PubMed  Google Scholar 

  • Lefvert, A.K. and Osterman, P.O. (1983). Newborn infants to myasthenic mothers: A clinical study and an investigation of acetylcholine receptor antibodies in 17 children. Neurology, 33, 133–138.

    CAS  PubMed  Google Scholar 

  • Lefvert, A.K., Pirskanen, R., and Svanborg, E. (1985). Anti-idiotypic antibodies, acetylcholine receptor antibodies and disturbed neuromuscular function in healthy relatives to patients with myasthenia gravis. J. Neuroimmunol., 9, 41–53.

    Article  CAS  PubMed  Google Scholar 

  • Mantegazza, R., Oksenberg, J.R., Baggi, F., Antozzi, C., Illeni, M.T., Pellegris, G., Cornelio, F., and Steinman, L. (1990). Increased incidence of certain TCR and HLA genes associated with myasthenia gravis in Italians. J. Autoimmun., 3, 431–440.

    CAS  PubMed  Google Scholar 

  • Maselli, R.A., Richman, D.P., and Wollmann, R.L. (1991). Inflammation at the neuromuscular junction in myasthenia gravis. Neurology, 41, 1497–1504.

    CAS  PubMed  Google Scholar 

  • Oaks, M.K., Hallett, K.M., Penwell, R.T., Stauber, E.C., Warren, S.J., and Tector, A.J. (2000). A native soluble form of CTLA-4. Cell. Immunol., 201, 144–153.

    Article  CAS  PubMed  Google Scholar 

  • Oksenberg, J.R., Sherritt, M., Begovich, A.B., Erlich, H.A., Bernard, C.C., Cavalli-Sforza, L.L., and Steinman, L. (1989). T-cell receptor V alpha and C alpha alleles associated with multiple sclerosis and myasthenia gravis. Proc. Natl. Acad. Sci. USA, 86, 988–992.

    CAS  PubMed  Google Scholar 

  • Sciacca, F.L., Ferri, C., Veglia, F., Andreetta, F., Mantegazza, R., Cornelio, F., Franciotta, D., Piccolo, G., Cosi, V., Batocchi, A.P., Evoli, A., and Grimaldi, L.M.E. (2002). IL-1 genes in myasthenia gravis: IL-1A-889 polymorphism associated with sex and age of disease onset. J. Neuroimmunol., 122, 94–99.

    Article  CAS  PubMed  Google Scholar 

  • Scott, M.G., Swan, C., Wheatley, A.P., and Hall, I.P. (1999). Identification of novel polymorphisms within the promoter region of the human beta2 adrenergic receptor gene. Br. J. Pharmacol., 126, 841–844.

    Article  CAS  PubMed  Google Scholar 

  • Smith, C.I., Grubb, R., Hammarstrom, L., and Pirskanen, R. (1984). Gm allotypes in Finnish myasthenia gravis patients. Neurology, 34, 1604–1605.

    CAS  PubMed  Google Scholar 

  • Spurkland, A., Gilhus, N.E., Ronningen, K.S., Aarli, J.A., and Vartdal, F. (1991). Myasthenia gravis patients with thymoma display different HLA associations. Tissue Antigens, 37, 90–93.

    CAS  PubMed  Google Scholar 

  • Sundewall, A.C., Lefvert, A.K., and Olsson, R. (1985). Anti-acetylcholine receptor antibodies in primary biliary cirrhosis. Acta Med. Scand., 217, 519–525.

    CAS  PubMed  Google Scholar 

  • Truffault, F., Cohen-Kaminsky, S., Khalil, I., Levasseur, P., and Berrih-Aknin, S. (1997). Altered intrathymic T cell repertoire in human myasthenia gravis. Ann. Neurol., 41, 731–741.

    Article  CAS  PubMed  Google Scholar 

  • Turner, D.M., William, D.M., Sankaran, D., Lazarus, M., Sinnott, P.J., and Hutchinson, I.V. (1997). An investigation of polymorphism in the interleukin-10 gene promoter. Eur. J. Immunogenet., 24, 1–8.

    CAS  PubMed  Google Scholar 

  • Wang, X.B., Kakoulidou, M., Qiu, Q., Giscombe, R., Huang, D.R., Pirskanen, R, and Lefvert, A.K. (2002a). CDS1 and promoter single nucleotide polymorphisms of the CTLA-4 gene in human myasthenia gravis. Genes Immun., 3, 46–49.

    CAS  PubMed  Google Scholar 

  • Wang, X.B., Kakoulidou, M., Giscombe, R., Qiu, Q., Huang, D.R., Pirskanen, R., and Lefvert, A.K. (2002b). Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: Effect of an AT-rich gene sequence. J. Neuroimmunol., 130, 224–232.

    CAS  PubMed  Google Scholar 

  • Wang, X.B., Zhao, X., Giscombe, R., and Lefvert, A.K. (2002c). A CTLA-4 gene polymorphism at position −318 in the promoter region affects the expression of protein. Genes Immun., 3, 232–234.

    Google Scholar 

  • Waterhouse, P., Penninger, J.M., Timms, E., Wakeham, A., Shahinian, A., Lee, K.P., Thompson, C.B., Griesser, H., and Mak, T.W. (1995). Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4. Science, 270, 985–988.

    CAS  PubMed  Google Scholar 

  • Xu, B.Y., Huang, D.R., Pirskanen, R., and Lefvert, A.K. (2000). β2-adrenergic receptor gene polymorphisms in myasthenia gravis. Clin. Exp. Immunol., 119, 156–160

    Article  CAS  PubMed  Google Scholar 

  • Xu, B.Y., Pirskanen, R., and Lefvert, A.K. (1998). Antibodies against β1 and β2 adrenergic receptors in myasthenia gravis. J. Neuroimmunol., 91, 82–88.

    Article  CAS  PubMed  Google Scholar 

  • Xu, B.Y., Pirskanen, R., and Lefvert, A.K.. (1999). Antibody-dependent cytotoxicity: An additional mechanism that might operate in human myasthenia gravis. J. Neuroimmunol., 99, 183–188.

    Article  CAS  PubMed  Google Scholar 

  • Xu, B.Y., Yi, Q., Pirskanen, R., Matell, G., Eng, H., and Lefvert, A.K. (1997). Decreased β2 adrenergic receptor density on peripheral blood mononuclear cells in myasthenia gravis. J. Autoimmun., 10, 401–406.

    Article  CAS  PubMed  Google Scholar 

  • Zheng, C., Huang, D., Liu, L., Wu, R., Bergenbrant-Glas, S., Österborg, A., Björkholm, M., Holm, G., Yi, Q., and Sundblad, A. (2001). Interleukin-10 gene promoter polymorphisms in multiple myeloma. Int. J. Cancer, 95, 184–188.

    Article  CAS  PubMed  Google Scholar 

  • Zhou, Y.H., Giscombe, R., Huang, D.R., and Lefvert, A.K.(2002). Novel genetic association of Wegener’s granulomatosis to the interleukin-10 gene. J. Rheumatol., 29, 317–320.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Springer Science+Business Media, Inc.

About this chapter

Cite this chapter

Lefvert, A.K. (2005). Non-MHC Genetic Polymorphisms with Functional Importance for Human Myasthenia Gravis. In: Zouali, M. (eds) Molecular Autoimmunity. Springer, Boston, MA. https://doi.org/10.1007/0-387-24534-0_8

Download citation

Publish with us

Policies and ethics