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  • Variation in the vitamin D receptor gene is associated with multiple sclerosis in an Australian population

    Author(s)
    Tajouri, Lotfi
    Ovcaric, Micky
    Curtain, Rob
    Johnson, Matthew
    Griffiths, Lyn
    Csurhes, Peter
    P. Pender, Michael
    Lea, Rodney
    Griffith University Author(s)
    Tajouri, Lotfi
    Johnson, Matthew P.
    Griffiths, Lyn
    Lea, Rodney A.
    Curtain, Rob
    Ovcaric, Micky
    Year published
    2005
    Metadata
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    Abstract
    Multiple Sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system (CNS) resulting in accumulating neurological disability. The disorder is more prevalent at higher latitudes. Objectives: To investigate VDR gene variation using three intragenic restriction fragment length polymorphisms (Apa I, Taq I and Fok I) in an Australian MS case-control population. One hundred and four Australian MS patients were studied with patients classified clinically as Relapsing Remitting MS (RR-MS), Secondary Progressive MS (SP-MS) or Primary Progressive MS (PP-MS). Also, 104 age, sex and ethnicity matched ...
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    Multiple Sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system (CNS) resulting in accumulating neurological disability. The disorder is more prevalent at higher latitudes. Objectives: To investigate VDR gene variation using three intragenic restriction fragment length polymorphisms (Apa I, Taq I and Fok I) in an Australian MS case-control population. One hundred and four Australian MS patients were studied with patients classified clinically as Relapsing Remitting MS (RR-MS), Secondary Progressive MS (SP-MS) or Primary Progressive MS (PP-MS). Also, 104 age, sex and ethnicity matched controls were investigated as a comparative group. Our results show a significant difference of genotype distribution frequency between the case and control groups for the functional exon 9 VDR marker Taq I (PGen = 0.016) and interestingly, a stronger difference for the allelic frequency (PAll = 0.0072). The Apa I variant was also found to be associated with MS (PAll = 0.04) but genotype frequency was not significantly different from controls (PGen = 0.1). The Taq and Apa variants are in very strong and significant linkage disequilibrium (D'= 0.96, P < 0.0001) and their associations are more prominent with the progressive forms of MS (SP-MS and PP-MS). Neither of these two positive variants is in linkage disequilibrium with the negatively associated Fok I variant (PGen = 0.26; PAll = 0.218). Our results support a role for a susceptibility haplotype in the VDR gene increasing the risk of developing multiple sclerosis, particularly the progressive clinical subtypes of MS.
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    Journal Title
    Journal of Neurogenetics
    Volume
    19
    Issue
    1
    DOI
    https://doi.org/10.1080/01677060590949692
    Subject
    Genetics
    Clinical Sciences
    Neurosciences
    Publication URI
    http://hdl.handle.net/10072/4857
    Collection
    • Journal articles

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