Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
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.
Jensen
Cathy J
CJ
Howard Florey Institute, Melbourne, Australia.
Stankovich
Jim
J
Van der Walt
Anneke
A
Bahlo
Melanie
M
Taylor
Bruce V
BV
van der Mei
Ingrid A F
IA
Foote
Simon J
SJ
Kilpatrick
Trevor J
TJ
Johnson
Laura J
LJ
Wilkins
Ella
E
Field
Judith
J
Danoy
Patrick
P
Brown
Matthew A
MA
Rubio
Justin P
JP
Butzkueven
Helmut
H
D000328:Adult; D017668:Age of Onset; D001284:Atrophy; D001315:Australia; D001921:Brain / Q000473:pathology; D003071:Cognition; D015331:Cohort Studies; D004185:Disability Evaluation; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index