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  • Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients

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    Author(s)
    Jensen, Cathy J
    Stankovich, Jim
    Van der Walt, Anneke
    Bahlo, Melanie
    Taylor, Bruce V
    van der Mei, Ingrid AF
    Foote, Simon J
    Kilpatrick, Trevor J
    Johnson, Laura J
    Wilkins, Ella
    Field, Judith
    Danoy, Patrick
    Brown, Matthew A
    Rubio, Justin P
    Butzkueven, Helmut
    Griffith University Author(s)
    Griffiths, Lyn
    Broadley, Simon
    Butzkueven, Helmut
    Year published
    2010
    Metadata
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    Abstract
    Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease ...
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    Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.
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    Journal Title
    PloS One
    Volume
    5
    Issue
    4
    DOI
    https://doi.org/10.1371/journal.pone.0010003
    Copyright Statement
    © 2010 Broadley et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License CCAL. (http://www.plos.org/journals/license.html)
    Subject
    Neurology and neuromuscular diseases
    Publication URI
    http://hdl.handle.net/10072/33177
    Collection
    • Journal articles

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