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dc.contributor.authorHusain, S
dc.contributor.authorYildirim-Toruner, C
dc.contributor.authorRubio, JP
dc.contributor.authorField, J
dc.contributor.authorSchwalb, M
dc.contributor.authorCook, S
dc.contributor.authorDevoto, M
dc.contributor.authorVitale, E
dc.date.available2016-03-03T01:51:20Z
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.available2008-06-07
dc.date.issued2008-07-09
dc.identifierhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000264065800055&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1c
dc.identifierARTN e2653
dc.identifier.citationHusain, S., Yildirim-Toruner, C., Rubio, J. P., Field, J., Schwalb, M., Cook, S., Devoto, M. & Vitale, E. (2008). Variants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis. PLOS ONE, 3 (7), https://doi.org/10.1371/journal.pone.0002653.
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/11343/59114
dc.description.abstractMultiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system of unknown etiology with both genetic and environmental factors playing a role in susceptibility. To date, the HLA DR15/DQ6 haplotype within the major histocompatibility complex on chromosome 6p, is the strongest genetic risk factor associated with MS susceptibility. Additional alleles of IL7 and IL2 have been identified as risk factors for MS with small effect. Here we present two independent studies supporting an allelic association of MS with polymorphisms in the ST8SIA1 gene, located on chromosome 12p12 and encoding ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1. The initial association was made in a single three-generation family where a single-nucleotide polymorphism (SNP) rs4762896, was segregating together with HLA DR15/DQ6 in MS patients. A study of 274 family trios (affected child and both unaffected parents) from Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793, with p = 0.001, p = 0.01 and p = 0.01 respectively. These findings implicate ST8SIA1 as a possible novel susceptibility gene for MS.
dc.languageEnglish
dc.publisherPUBLIC LIBRARY SCIENCE
dc.titleVariants of ST8SIA1 Are Associated with Risk of Developing Multiple Sclerosis
dc.typeJournal Article
dc.identifier.doi10.1371/journal.pone.0002653
melbourne.affiliation.departmentMedicine, Dentistry & Health Sciences
melbourne.affiliation.departmentFlorey Department of Neuroscience and Mental Health
melbourne.affiliation.departmentMelbourne Medical School
melbourne.affiliation.departmentEducation Unit, MDHS
melbourne.affiliation.departmentRadiology
melbourne.affiliation.departmentMedicine (RMH)
melbourne.affiliation.departmentSchool of Biomedical Sciences
melbourne.affiliation.departmentAnatomy and Neuroscience
melbourne.affiliation.departmentCentre for Neuroscience
melbourne.affiliation.departmentPathology
melbourne.affiliation.departmentMedical Biology
melbourne.affiliation.departmentMathematics and Statistics
melbourne.source.titlePLOS ONE
melbourne.source.volume3
melbourne.source.issue7
dc.rights.licenseCC BY
melbourne.elementsid320295
melbourne.openaccess.pmchttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2440423
melbourne.contributor.authorTUBRIDY, NIALL
melbourne.contributor.authorMARRIOTT, MARK
melbourne.contributor.authorCHAPMAN, CARON
melbourne.contributor.authorKilpatrick, Trevor
melbourne.contributor.authorFOOTE, SIMON
melbourne.contributor.authorButzkueven, Helmut
melbourne.contributor.authorBahlo, Melanie
melbourne.contributor.authorSpeed, Terence
melbourne.contributor.authorSTANKOVICH, JAMES
melbourne.contributor.authorField, Judith
melbourne.contributor.authorRubio, Justin
dc.identifier.eissn1932-6203
pubs.acceptance.date2008-06-07
melbourne.accessrightsOpen Access


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