Journal article
Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients
PloS one, Vol.5(4), e10003
2010
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.
Details
- Title
- Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients
- Authors/Creators
- C.J. Jensen (Author/Creator) - Czech Academy of Sciences, Institute of PhysiologyJ. Stankovich (Author/Creator) - University of TasmaniaA. Van der Walt (Author/Creator) - The Royal Melbourne HospitalM. Bahlo (Author/Creator) - Walter and Eliza Hall Institute of Medical ResearchB.V. Taylor (Author/Creator) - University of TasmaniaI.A.F. van der Mei (Author/Creator)S.J. Foote (Author/Creator) - University of TasmaniaT.J. Kilpatrick (Author/Creator) - The University of MelbourneL.J. Johnson (Author/Creator) - Florey Institute of Neuroscience and Mental HealthE. Wilkins (Author/Creator) - Florey Institute of Neuroscience and Mental HealthJ. Field (Author/Creator) - Florey Institute of Neuroscience and Mental HealthP. Danoy (Author/Creator) - Princess Alexandra Hospital.M.A. Brown (Author/Creator) - Princess Alexandra Hospital.J.P. Rubio (Author/Creator) - Florey Institute of Neuroscience and Mental HealthH. Butzkueven (Author/Creator) - Florey Institute of Neuroscience and Mental HealthA.G. Kermode (Author/Creator)
- Publication Details
- PloS one, Vol.5(4), e10003
- Publisher
- Public Library of Science
- Identifiers
- 991005541251707891
- Copyright
- © 2010 Jensen et al.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
- Note
- Appears as a member of The Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)
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Source: InCites
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.203 Neuromuscular Disorders
- 1.203.147 Multiple Sclerosis
- Web Of Science research areas
- Clinical Neurology
- ESI research areas
- Neuroscience & Behavior