Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis.

Hdl Handle:
http://hdl.handle.net/10147/129140
Title:
Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis.
Authors:
McLaughlin, Russell Lewis; Phukan, Julie; McCormack, William; Lynch, David S; Greenway, Matthew; Cronin, Simon; Saunders, Jean; Slowik, Agnieska; Tomik, Barbara; Andersen, Peter M; Bradley, Daniel G; Jakeman, Phil; Hardiman, Orla
Affiliation:
Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland. mclaugr@tcd.ie
Citation:
Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis. 2010, 5 (11):e15402 PLoS ONE
Publisher:
PLoS One
Journal:
PloS one
Issue Date:
Nov-2010
URI:
http://hdl.handle.net/10147/129140
DOI:
10.1371/journal.pone.0015402
PubMed ID:
21085671
Abstract:
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.; 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.; 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.; 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.
Item Type:
Article
Language:
en
MeSH:
Alleles; Amyotrophic Lateral Sclerosis; Gene Frequency; Genetic Predisposition to Disease; Genotype; Haplotypes; Humans; Ireland; Linkage Disequilibrium; Poland; Polymorphism, Single Nucleotide; Ribonuclease, Pancreatic; Sweden
ISSN:
1932-6203

Full metadata record

DC FieldValue Language
dc.contributor.authorMcLaughlin, Russell Lewisen
dc.contributor.authorPhukan, Julieen
dc.contributor.authorMcCormack, Williamen
dc.contributor.authorLynch, David Sen
dc.contributor.authorGreenway, Matthewen
dc.contributor.authorCronin, Simonen
dc.contributor.authorSaunders, Jeanen
dc.contributor.authorSlowik, Agnieskaen
dc.contributor.authorTomik, Barbaraen
dc.contributor.authorAndersen, Peter Men
dc.contributor.authorBradley, Daniel Gen
dc.contributor.authorJakeman, Philen
dc.contributor.authorHardiman, Orlaen
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

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