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


Autoria(s): 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; Griffiths, Lyn R.
Data(s)

2010

Resumo

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.

Formato

application/pdf

Identificador

http://eprints.qut.edu.au/62634/

Publicador

Public Library of Science

Relação

http://eprints.qut.edu.au/62634/1/2013005088.pdf

DOI:10.1371/journal.pone.0010003

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, & Griffiths, Lyn R. (2010) Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients. PLoS ONE, 5(4), e10003.

Direitos

Copyright 2010 Jensen et al.

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Fonte

School of Biomedical Sciences; Institute of Health and Biomedical Innovation

Tipo

Journal Article