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

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Title Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients
Author Jenson, Cathy J.; Stankovich, Jim; Walt, Anneke Van der; Bahlo, Melanie; Taylor, Bruce V.; Mei, Ingrid A. F. van der; Foote, Simon J.; Kilpatrick, Trevor J.; Johnson, Laura J.; Wilkins, Ella; Field, Judith; Danoy, Patrick; Brown, Matthew A; Broadley, Simon; Rubio, Justin P.; Butzkueven, Helmut; al, et
Journal Name PLos One
Editor Christopher Surridge
Year Published 2010
Place of publication United States
Publisher Public Library of Science
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.
Peer Reviewed Yes
Published Yes
Alternative URI http://dx.doi.org/10.1371/journal.pone.0010003
Copyright Statement Copyright 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)
Volume 5
Issue Number 4
Page from e10003-1
Page to e10003-7
ISSN 1932-6203
Date Accessioned 2010-07-08
Date Available 2010-09-01T08:08:40Z
Language en_AU
Research Centre Griffith Health Institute; Molecular Basis of Disease
Faculty Griffith Health Faculty
Subject Neurology and Neuromuscular Diseases
URI http://hdl.handle.net/10072/33177
Publication Type Journal Articles (Refereed Article)
Publication Type Code c1

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