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


Jensen, CJ and Stankovich, J and Van der Walt, A and Bahlo, M and Taylor, BV and van der Mei, IAF and Foote, SJ and Kilpatrick, TJ and Johnson, LJ and Wilkins, E and Field, J and Danoy, P and Brown, MA and Booth, DR and Broadley, SA and Browning, BL and Browning, SR and Carroll, WM and Griffiths, LR and Heard, RN and Kermode, AG and Lechner-Scott, J and Moscato, P and Perreau, VM and Scott, RJ and Slee, M and Stewart, GJ and Wiley, J and Rubio, JP and Butzkueven, H, Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients, P L o S One, 5, (4) EJ ISSN 1932-6203 (2010) [Refereed Article]


Copyright Statement

2010 Jensen et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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DOI: doi:10.1371/journal.pone.0010003


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 12q1314 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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Stankovich, J (Dr Jim Stankovich)
UTAS Author:Taylor, BV (Professor Bruce Taylor)
UTAS Author:van der Mei, IAF (Professor Ingrid van der Mei)
UTAS Author:Foote, SJ (Professor Simon Foote)
ID Code:64861
Year Published:2010
Web of Science® Times Cited:39
Deposited By:Menzies Institute for Medical Research
Deposited On:2010-09-08
Last Modified:2011-06-15
Downloads:409 View Download Statistics

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