Abstract
A 77G allele of the gene encoding CD45, also known as the protein tyrosine phosphatase receptor-type C gene (PTPRC), has been associated with multiple sclerosis (MS). Here we determine allele frequencies in large numbers of MS patients, primary immunodeficiencies linked to the major histocompatibility complex (MHC) locus and over 1,000 controls to assess whether aberrant splicing of PTPRC caused by the 77C→G polymorphism results in increased susceptibility to these diseases. Our results show no difference in the frequency of the 77G allele in patients and controls and thus do not support a causative role for the polymorphism in the development of disorders with a strong autoimmune component in etiology.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Jacobsen, M. et al. Nature Genet. 26, 495–499 (2000).
Pingel, J.T. & Thomas, M.L. Cell 58, 1055–1065 (1989).
Byth, K. F. et al. J. Exp. Med. 183, 1707–1718 (1996).
Kishihara, K. et al. Cell 74, 143–156 (1993).
Cale, C.M. et al. Arch. Dis. Child. 76, 163–164 (1997).
Tchilian, E.Z. et al. J. Immunol. 166, 1308–1313 (2001).
Trop, S., Charron, J., Arguin, C. & Hugo, P. J. Immunol. 165, 3073–3079 (2000).
Czyzyk, J., Leitenberg, D., Taylor, T., Bottomly, K. Mol. Cell Biol. 20, 8740–8747 (2000).
Thude, H., Hundrieser, J., Wonigeit, K. & Schwinzer, R. Eur. J. Immunol. 25, 2101–2106 (1995).
Lynch, K.W. & Weiss, A. J. Biol. Chem. 276, 24341–24347 (2001).
Zilch, C.F. et al. Eur. J. Immunol. 28, 22–29 (1998).
Majeti, R. et al. Cell 103, 1059–1070 (2000).
Vorechovsky, I., Webster, A.D.B., Plebani, A. & Hammarstrom, L. Am. J. Hum. Genet. 64, 1096–1109 (1999).
Tchilian, E.Z. et al. J. Immunol. 166, 6144–6148 (2001).
Lebranchu, Y., Thibault, G., Degenne, D. & Bardos, P. Clin. Immunol. Immunopathol. 61, 83–92 (1991).
Acknowledgements
This work was supported by the Primary Immunodeficiency Association of the UK.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Vorechovsky, I., Kralovicova, J., Tchilian, E. et al. Does 77→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?. Nat Genet 29, 22–23 (2001). https://doi.org/10.1038/ng723
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/ng723
This article is cited by
-
The CD45 77C/G allele is not associated with myasthenia gravis - a reassessment of the potential role of CD45 in autoimmunity
BMC Research Notes (2010)
-
Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk
Nature Genetics (2009)
-
Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis
Genes & Immunity (2005)
-
Protein tyrosine phosphatases and the immune response
Nature Reviews Immunology (2005)
-
77 C/G mutation in the tyrosine phosphatase CD45 gene and autoimmune hepatitis: evidence for a genetic link
Genes & Immunity (2003)
