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. 2010 Apr 2;5(4):e10003.
doi: 10.1371/journal.pone.0010003.

Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Cathy J Jensen  1 , 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, Helmut Butzkueven
Collaborators, Affiliations

Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Cathy J Jensen et al. PLoS One. .

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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

References

    1. The International Multiple Sclerosis Genetics Consortium. Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study. N Engl J Med. 2007;357:851–862. - PubMed
    1. Masterman T, Ligers A, Olsson T, Andersson M, Olerup O, et al. HLA-DR15 is associated with lower age at onset in multiple sclerosis. Annals of Neurology. 2000;48:211–219. - PubMed
    1. Zhang Z, Duvefelt K, Svensson F, Masterman T, Jonasdottir G, et al. Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis. Genes Immun. 2005;6:145–152. - PubMed
    1. Rubio JP, Stankovich J, Field J, Tubridy N, Marriott M, et al. Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians. Genes Immun 2008 - PubMed
    1. ANZgene Consortium. Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet. 2009;41:824–828. - PubMed

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