TY - JOUR
T1 - Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients
AU - Jensen, Cathy J.
AU - Stankovich, Jim
AU - Van der Walt, Anneke
AU - Bahlo, Melanie
AU - Taylor, Bruce V.
AU - van der Mei, Ingrid A.F.
AU - Foote, Simon J.
AU - Kilpatrick, Trevor J.
AU - Johnson, Laura J.
AU - Wilkins, Ella
AU - Field, Judith
AU - Danoy, Patrick
AU - Brown, Matthew A.
AU - Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)
AU - Rubio, Justin P.
AU - Butzkueven, Helmut
AU - Booth, David R.
AU - Broadley, Simon A.
AU - Browning, Brian L.
AU - Browning, Sharon R.
AU - Carroll, William M.
AU - Griffiths, Lyn R.
AU - Heard, Robert N.
AU - Kermode, Allan G.
AU - Lechner-Scott, Jeanette
AU - Moscato, Pablo
AU - Perreau, Victoria M.
AU - Scott, Rodney J.
AU - Slee, Mark
AU - Stewart, Graeme J.
AU - Wiley, James
N1 - This is an open-access article distributed under the terms of the Creative Commons Attribution License
PY - 2010/4
Y1 - 2010/4
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=77956333737&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0010003
DO - 10.1371/journal.pone.0010003
M3 - Article
C2 - 20368992
AN - SCOPUS:77956333737
SN - 1932-6203
VL - 5
JO - PLoS One
JF - PLoS One
IS - 4
M1 - e10003
ER -