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Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis

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dc.contributor.author McLaughlin, Russell Lewis
dc.contributor.author Phukan, Julie
dc.contributor.author McCormack, William
dc.contributor.author Lynch, David S.
dc.contributor.author Greenway, Matthew
dc.contributor.author Cronin, Simon
dc.contributor.author Saunders, Jean
dc.contributor.author Slowik, Agnieska
dc.contributor.author Tomik, Barbara
dc.contributor.author Anderson, Peter M.
dc.contributor.author Bradley, David G.
dc.contributor.author Jakeman, P.M
dc.contributor.author Hardiman, Orla
dc.date.accessioned 2012-07-25T07:45:20Z
dc.date.available 2012-07-25T07:45:20Z
dc.date.issued 2010
dc.identifier.uri http://hdl.handle.net/10344/2400
dc.description peer-reviewed en_US
dc.description This paper was obtained through PEER (Publishing and the Ecology of European Research) http://www.peerproject.eu
dc.description.abstract Objective: To determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF. Methods: Allelic association statistics were calculated for polymorphisms in the ANG gene in 859 patients and 1047 controls from Sweden, Ireland and Poland. Plasma, serum and CSF angiogenin levels were quantified and stratified according to genotypes across the ANG gene. The contribution of SNP genotypes to variance in circulating angiogenin levels was estimated in patients and controls. Results: All SNPs showed association with ALS in the Irish group. The SNP rs17114699 replicated in the Swedish cohort. No SNP associated in the Polish cohort. Age- and sex-corrected circulating angiogenin levels were significantly lower in patients than in controls (p,0.001). An allele dose-dependent regulation of angiogenin levels was observed in controls. This regulation was attenuated in the ALS cohort. A significant positive correlation between CSF plasma angiogenin levels was present in controls and abolished in ALS. Conclusions: ANG variants associate with ALS in the Irish and Swedish populations, but not in the Polish. There is evidence of dysregulation of angiogenin expression in plasma and CSF in sporadic ALS. Angiogenin expression is likely to be important in the pathogenesis of ALS. en_US
dc.language.iso eng en_US
dc.publisher Public Library of Science en_US
dc.relation.ispartofseries PLoS One;5(11), e15402
dc.relation.uri http://dx.doi.org/10.1371/journal.pone.0015402
dc.subject genetics en_US
dc.subject allelic association statistics en_US
dc.subject ANG gene en_US
dc.title Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis en_US
dc.type info:eu-repo/semantics/article en_US
dc.type.supercollection all_ul_research en_US
dc.type.supercollection ul_published_reviewed en_US
dc.contributor.sponsor HRB en_US
dc.contributor.sponsor Irish Motor Neurone Disease Research Foundation en_US
dc.contributor.sponsor Muscular Dystrophy Association (United States) en_US
dc.relation.projectid HRB CSA 2007/3 en_US
dc.relation.projectid IMNDRF 07/01 en_US
dc.relation.projectid 2007/4252 en_US
dc.rights.accessrights info:eu-repo/semantics/openAccess en_US
dc.internal.rssid 1134128
dc.internal.authorcontactother phil.jakeman@ul.ie
dc.internal.authorcontactother jean.saunders@ul.ie


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