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dc.contributor.authorJ. Jenson, Cathyen_US
dc.contributor.authorStankovich, Jimen_US
dc.contributor.authorVan der Walt, Annekeen_US
dc.contributor.authorBahlo, Melanieen_US
dc.contributor.authorV. Taylor, Bruceen_US
dc.contributor.authorA. F. van der Mei, Ingriden_US
dc.contributor.authorJ. Foote, Simonen_US
dc.contributor.authorJ. Kilpatrick, Trevoren_US
dc.contributor.authorJ. Johnson, Lauraen_US
dc.contributor.authorWilkins, Ellaen_US
dc.contributor.authorField, Judithen_US
dc.contributor.authorDanoy, Patricken_US
dc.contributor.authorBrown, Matthewen_US
dc.contributor.authorBroadley, Simonen_US
dc.contributor.authorGriffiths, Lynen_US
dc.contributor.authorP. Rubio, Justinen_US
dc.contributor.authorButzkueven, Helmuten_US
dc.contributor.authoral, eten_US
dc.contributor.editorChristopher Surridgeen_US
dc.date.accessioned2017-04-24T12:46:40Z
dc.date.available2017-04-24T12:46:40Z
dc.date.issued2010en_US
dc.identifier.issn19326203en_US
dc.identifier.doi10.1371/journal.pone.0010003en_US
dc.identifier.urihttp://hdl.handle.net/10072/33177
dc.description.abstractRecent 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.en_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_US
dc.format.extent39493 bytes
dc.format.extent106369 bytes
dc.format.mimetypetext/plain
dc.format.mimetypeapplication/pdf
dc.languageEnglishen_US
dc.language.isoen_US
dc.publisherPublic Library of Scienceen_US
dc.publisher.placeUnited Statesen_US
dc.relation.ispartofstudentpublicationNen_US
dc.relation.ispartofpagefrome10003-1en_US
dc.relation.ispartofpagetoe10003-7en_US
dc.relation.ispartofissue4en_US
dc.relation.ispartofjournalPloS Oneen_US
dc.relation.ispartofvolume5en_US
dc.rights.retentionYen_US
dc.subject.fieldofresearchNeurology and Neuromuscular Diseasesen_US
dc.subject.fieldofresearchcode110904en_US
dc.titleMultiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patientsen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.rights.copyrightCopyright 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)en_US
gro.date.issued2014-10-10T01:56:42Z
gro.hasfulltextFull Text


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