Journal article

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

Cathy J Jensen, Jim Stankovich, Anneke Van der Walt, Melanie Bahlo, Bruce V Taylor, Ingrid AF van der Mei, Simon J Foote, Trevor J Kilpatrick, Laura J Johnson, Ella Wilkins, Judith Field, Patrick Danoy, Matthew A Brown, Justin P Rubio, Helmut Butzkueven



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 a..

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Awarded by Australia Research Council

Funding Acknowledgements

HB is supported by a Peter Doherty Post-doctoral Fellowship (NHMRC). JPR and MB are supported by NHMRC Biomedical Career Development Awards, IvdM by a NHMRC Australian Research Training Fellowship (Part-Time) and MAB by an NHMRC Principal Research Fellowship. JF is supported by a Multiple Sclerosis Research Australia Fellowship and CJJ is supported by a Monash Departmental Scholarship. This study was supported by Multiple Sclerosis Research Australia ( and an Australia Research Council ( Linkage Grant (LP0776744). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.