Show simple item record

dc.contributor.authorMcLaughlin, Russell Lewis
dc.contributor.authorPhukan, Julie
dc.contributor.authorMcCormack, William
dc.contributor.authorLynch, David S
dc.contributor.authorGreenway, Matthew
dc.contributor.authorCronin, Simon
dc.contributor.authorSaunders, Jean
dc.contributor.authorSlowik, Agnieska
dc.contributor.authorTomik, Barbara
dc.contributor.authorAndersen, Peter M
dc.contributor.authorBradley, Daniel G
dc.contributor.authorJakeman, Phil
dc.contributor.authorHardiman, Orla
dc.date.accessioned2011-05-05T14:36:17Z
dc.date.available2011-05-05T14:36:17Z
dc.date.issued2010-11
dc.identifier.citationAngiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis. 2010, 5 (11):e15402 PLoS ONEen
dc.identifier.issn1932-6203
dc.identifier.pmid21085671
dc.identifier.doi10.1371/journal.pone.0015402
dc.identifier.urihttp://hdl.handle.net/10147/129140
dc.description.abstractTo 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.
dc.description.abstractAllelic 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.
dc.description.abstractAll 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.
dc.description.abstractANG 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.
dc.language.isoenen
dc.publisherPLoS Oneen
dc.subject.meshAlleles
dc.subject.meshAmyotrophic Lateral Sclerosis
dc.subject.meshGene Frequency
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGenotype
dc.subject.meshHaplotypes
dc.subject.meshHumans
dc.subject.meshIreland
dc.subject.meshLinkage Disequilibrium
dc.subject.meshPoland
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshRibonuclease, Pancreatic
dc.subject.meshSweden
dc.titleAngiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis.en
dc.typeArticleen
dc.contributor.departmentSmurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland. mclaugr@tcd.ieen
dc.identifier.journalPloS oneen
refterms.dateFOA2018-08-22T12:15:24Z
html.description.abstractTo 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.
html.description.abstractAllelic 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.
html.description.abstractAll 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.
html.description.abstractANG 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.


Files in this item

Thumbnail
Name:
21085671.pdf
Size:
555.9Kb
Format:
PDF

This item appears in the following Collection(s)

Show simple item record