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dc.contributor.authorJensen, Cathy J
dc.contributor.authorStankovich, Jim
dc.contributor.authorVan der Walt, Anneke
dc.contributor.authorBahlo, Melanie
dc.contributor.authorTaylor, Bruce V
dc.contributor.authorvan der Mei, Ingrid AF
dc.contributor.authorFoote, Simon J
dc.contributor.authorKilpatrick, Trevor J
dc.contributor.authorJohnson, Laura J
dc.contributor.authorWilkins, Ella
dc.contributor.authorField, Judith
dc.contributor.authorDanoy, Patrick
dc.contributor.authorBrown, Matthew A
dc.contributor.authorRubio, Justin P
dc.contributor.authorButzkueven, Helmut
dc.contributor.editorChristopher Surridge
dc.date.accessioned2017-05-03T15:15:54Z
dc.date.available2017-05-03T15:15:54Z
dc.date.issued2010
dc.identifier.issn1932-6203
dc.identifier.doi10.1371/journal.pone.0010003
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.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.format.extent39493 bytes
dc.format.extent106369 bytes
dc.format.mimetypetext/plain
dc.format.mimetypeapplication/pdf
dc.languageEnglish
dc.language.isoeng
dc.publisherPublic Library of Science
dc.publisher.placeUnited States
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrome10003-1
dc.relation.ispartofpagetoe10003-7
dc.relation.ispartofissue4
dc.relation.ispartofjournalPloS One
dc.relation.ispartofvolume5
dc.rights.retentionY
dc.subject.fieldofresearchNeurology and neuromuscular diseases
dc.subject.fieldofresearchcode320905
dc.titleMultiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dcterms.licensehttp://www.plos.org/journals/license.html
gro.rights.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)
gro.date.issued2014-10-10T01:56:42Z
gro.hasfulltextFull Text
gro.griffith.authorBroadley, Simon


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