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...

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Autores principales:	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, Helmut Butzkueven
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2010
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/13cb2becb1be45648188bdae2e91bbeb
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spelling	oai:doaj.org-article:13cb2becb1be45648188bdae2e91bbeb2021-11-25T06:24:47ZMultiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.1932-620310.1371/journal.pone.0010003https://doaj.org/article/13cb2becb1be45648188bdae2e91bbeb2010-04-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20368992/?tool=EBIhttps://doaj.org/toc/1932-6203Recent 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.Cathy J JensenJim StankovichAnneke Van der WaltMelanie BahloBruce V TaylorIngrid A F van der MeiSimon J FooteTrevor J KilpatrickLaura J JohnsonElla WilkinsJudith FieldPatrick DanoyMatthew A BrownAustralian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)Justin P RubioHelmut ButzkuevenPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 5, Iss 4, p e10003 (2010)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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 Helmut Butzkueven Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
description	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.
format	article
author	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 Helmut Butzkueven
author_facet	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 Helmut Butzkueven
author_sort	Cathy J Jensen
title	Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
title_short	Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
title_full	Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
title_fullStr	Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
title_full_unstemmed	Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
title_sort	multiple sclerosis susceptibility-associated snps do not influence disease severity measures in a cohort of australian ms patients.
publisher	Public Library of Science (PLoS)
publishDate	2010
url	https://doaj.org/article/13cb2becb1be45648188bdae2e91bbeb
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Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.

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