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  • An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population

    Author(s)
    Szvetko, Attila
    Jones, Ashleigh
    Mackenzie, Jason
    Tajouri, Lotfi
    Csurhes, Peter A.
    Greer, Judith M.
    Pender, Michael P.
    Griffiths, Lyn
    Griffith University Author(s)
    Tajouri, Lotfi
    Griffiths, Lyn
    Szvetko, Attila L.
    Mackenzie, Jason
    Jones, Ashleigh R.
    Year published
    2009
    Metadata
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    Abstract
    Multiple sclerosis (MS) is a common cause of neurological disability in young adults. The disease generally manifests in early to middle adulthood and causes various neurological deficits. Autoreactive T lymphocytes and their associated antigens have long been presumed important features of MS pathogenesis. The Protein tyrosine phosphatase receptor type C gene (PTPRC) encodes the T-cell receptor CD45. Variations within PTPRC have been previously associated with diseases of autoimmune origin such as type 1 diabetes mellitus and Graves' disease. We set out to investigate two variants within the PTPRC gene, C77G and C772T in ...
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    Multiple sclerosis (MS) is a common cause of neurological disability in young adults. The disease generally manifests in early to middle adulthood and causes various neurological deficits. Autoreactive T lymphocytes and their associated antigens have long been presumed important features of MS pathogenesis. The Protein tyrosine phosphatase receptor type C gene (PTPRC) encodes the T-cell receptor CD45. Variations within PTPRC have been previously associated with diseases of autoimmune origin such as type 1 diabetes mellitus and Graves' disease. We set out to investigate two variants within the PTPRC gene, C77G and C772T in subjects with MS and matched healthy controls to determine whether significant differences exist in these markers in an Australian population. We employed high resolution melt analysis (HRM) and restriction length polymorphism (RFLP) techniques to determine genotypic and allelic frequencies. Our study found no significant difference between frequencies for PTPRC C77G by either genotype (?2 = 0.65, P = 0.72) or allele (?2 = 0.48, P = 0.49). Similarly, we did not find evidence to suggest an association between PTPRC C772T by genotype (?2 = 1.06, P = 0.59) or allele (?2 = 0.20, P = 0.66). Linkage disequilibrium (LD) analysis showed strong linkage disequilibrium between the two tested markers (D' = 0.9970, SD = 0.0385). This study reveals no evidence to suggest that these markers are associated with MS in the tested Australian Caucasian population. Although the PTPRC gene has a significant role in regulating CD4+ and CD8+ autoreactive T-cells, interferon-beta responsiveness, and potentially other important processes, our study does not support a role for the two tested variants of this gene in MS susceptibility in the Australian population.
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    Journal Title
    Brain Research
    Volume
    1255
    Publisher URI
    http://www.sciencedirect.com/science/journal/00068993
    DOI
    https://doi.org/10.1016/j.brainres.2008.12.017
    Subject
    Gene expression (incl. microarray and other genome-wide approaches)
    Neurosciences
    Cognitive and computational psychology
    Publication URI
    http://hdl.handle.net/10072/30254
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    • Journal articles

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