1. Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients
- Author
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Cathy J Jensen, Jim Stankovich, Anneke Van der Walt, Melanie Bahlo, Bruce V Taylor, Ingrid A F van der Mei, Simon J Foote, Trevor J Kilpatrick, Laura J Johnson, Ella Wilkins, Judith Field, Patrick Danoy, Matthew A Brown, Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Justin P Rubio, and Helmut Butzkueven
- Subjects
Adult ,Male ,Oncology ,medicine.medical_specialty ,Multiple Sclerosis ,Science ,Neurological Disorders/Multiple Sclerosis and Related Disorders ,Single-nucleotide polymorphism ,Genome-wide association study ,Polymorphism, Single Nucleotide ,Severity of Illness Index ,Cohort Studies ,Disability Evaluation ,Cognition ,Internal medicine ,Severity of illness ,medicine ,Genetic predisposition ,Humans ,SNP ,Genetic Predisposition to Disease ,Age of Onset ,Genetics and Genomics/Genetics of Disease ,Genetic association ,Genetics ,Multidisciplinary ,business.industry ,Multiple sclerosis ,Australia ,Brain ,medicine.disease ,Neurological Disorders/Neurogenetics ,Medicine ,Female ,Atrophy ,Age of onset ,Neuroscience/Neurobiology of Disease and Regeneration ,business ,Genome-Wide Association Study ,Research Article - Abstract
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.
- Published
- 2010
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