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...

Full description

Saved in:
Bibliographic Details
Published in:PloS one 2010-04, Vol.5 (4), p.e10003-e10003
Main Authors: Jensen, Cathy J, Stankovich, Jim, Van der Walt, Anneke, Bahlo, Melanie, Taylor, Bruce V, van der Mei, Ingrid A F, Foote, Simon J, Kilpatrick, Trevor J, Johnson, Laura J, Wilkins, Ella, Field, Judith, Danoy, Patrick, Brown, Matthew A, Rubio, Justin P, Butzkueven, Helmut
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Alleles
Analysis
Atrophy
Australia
Brain
Brain - pathology
CD40 antigen
CD58 antigen
Chromosome 12
Cognition
Cohort Studies
Consortia
Cytokines
Demyelination
Disability Evaluation
Disease susceptibility
Ethics
Female
Genes
Genetic aspects
Genetic Predisposition to Disease
Genetics
Genetics and Genomics/Genetics of Disease
Genome-Wide Association Study
Haplotypes
Health risks
Histocompatibility antigen HLA
Hospitals
Humans
Immunology
Interleukin 2 receptors
Interleukin 7 receptors
Male
Medical research
Metabolism
Multiple sclerosis
Multiple Sclerosis - genetics
Neurological Disorders/Multiple Sclerosis and Related Disorders
Neurological Disorders/Neurogenetics
Neuroscience/Neurobiology of Disease and Regeneration
Neurosciences
Patients
Polymorphism
Polymorphism, Single Nucleotide
Population
Risk
Severity of Illness Index
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Spectrum analysis
Studies
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0010003