Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Jensen, Cathy J., Stankovich, Jim, Van der Walt, Anneke, Bahlo, Melanie, Taylor, Bruce V., van der Mei, Ingrid A. F., Foote, Simon J., Kilpatrick, Trevor J., Johnson, Laura J., Wilkins, Ella, Field, Judith, Danoy, Patrick, Brown, Matthew A., Rubio, Justin P., Butzkueven, Helmut, & Griffiths, Lyn R. (2010) Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients. PLoS ONE, 5(4), e10003.

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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 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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ID Code: 62634
Item Type: Journal Article
Refereed: Yes
Additional Information: Editor: Christoph Kleinschnitz, Julius-Maximilians-Universität Würzburg, Germany
DOI: 10.1371/journal.pone.0010003
ISSN: 1932-6203
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2010 Jensen et al.
Copyright Statement: 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.
Deposited On: 18 Sep 2013 03:43
Last Modified: 25 Sep 2015 00:54

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