University Of Tasmania
64861, Journal Article.pdf (104.4 kB)
Download file

Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients

Download (104.4 kB)
journal contribution
posted on 2023-05-17, 03:09 authored by Jensen, CJ, Jim StankovichJim Stankovich, Van der Walt, A, Bahlo, M, Bruce TaylorBruce Taylor, Ingrid van der MeiIngrid van der Mei, Simon James FooteSimon James Foote, Kilpatrick, TJ, Johnson, LJ, Wilkins, E, Field, J, Danoy, P, Brown, MA, Booth, DR, Broadley, SA, Browning, BL, Browning, SR, Carroll, WM, Griffiths, LR, Heard, RN, Kermode, AG, Lechner-Scott, J, Moscato, P, Perreau, VM, Scott, RJ, Slee, M, Stewart, GJ, Wiley, J, Rubio, JP, Butzkueven, H
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.


Publication title

P L o S One










Menzies Institute for Medical Research


Public Library of Science

Place of publication

United States

Rights statement

© 2010 Jensen et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Repository Status

  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

Usage metrics