Journal
PLOS ONE
Volume 5, Issue 3, Pages -Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0010003
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Categories
Funding
- Peter Doherty Post-doctoral Fellowship (NHMRC)
- NHMRC Biomedical Career Development Awards
- NHMRC Australian Research Training Fellowship
- NHMRC Principal Research Fellowship
- Multiple Sclerosis Research Australia Fellowship
- Monash Departmental Scholarship
- Multiple Sclerosis Research Australia
- Australia Research Council [LP0776744]
- Australian Research Council [LP0776744] Funding Source: Australian Research Council
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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.
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