http://purl.uniprot.org/citations/17854420 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/17854420 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundVariants in genes encoding enzymes involved in production, aggregation or degradation of beta-amyloid are potential risk factors for sporadic Alzheimer's disease (AD).MethodsMeta-analyses on AD association with BACE1 exon 5, BACE1 intron 5, FE65 intron 13, CYP46 intron 2, alpha(1)-antichymotrypsine Ala17Thr, bleomycin hydrolase I443V, lectin-like oxidized low-density lipoprotein receptor (OLR1) 3'-UTR (+1071) and (+1073), and very-low-density lipoprotein receptor (VLDLR) 5'-UTR (CGG-repeat) polymorphisms.ResultsIn BACE1 exon 5, genotype CC+CT acts as a protective factor in Apolipoprotein E (ApoE) epsilon 4 carriers [odds ratio (OR) = 0.57; 95% confidence interval (CI): 0.38-0.88], and as a risk factor in ApoE epsilon 4 non-carriers (OR = 1.33; 95% CI: 1.00-1.78). OLR1 3'-UTR (+1073) allele C is associated with increased risk (OR = 1.23; 95% CI: 1.01-1.50). VLDLR 5'-UTR genotype 2 is associated with increased risk (OR = 1.70; 95% CI: 1.09-2.63) in the Asian population and is protective (OR = 0.48; 95% CI: 0.26-0.86) in the non-Asian population. Other studied polymorphisms are not associated with AD.ConclusionsThe overall impact on AD risk of the genes for which meta-analyses are now available is rather limited. Additional meta-analyses of other different genes encoding for A beta production, aggregation and degradation mediators might help in determining the risk profile for AD."xsd:string |
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http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/author | "Combarros O."xsd:string |
http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/author | "Berciano J."xsd:string |
http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/author | "Llorca J."xsd:string |
http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/author | "Rodriguez-Rodriguez E."xsd:string |
http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/author | "Delgado-Rodriguez M."xsd:string |
http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/author | "Dierssen-Sotos T."xsd:string |
http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/name | "Acta Neurol Scand"xsd:string |
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http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/title | "Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease."xsd:string |
http://purl.uniprot.org/citations/17854420 | http://purl.uniprot.org/core/volume | "117"xsd:string |
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