PGS Publication: PGP000649

Publication Information (EuropePMC)
Title Genetic variants in glutamate-, Aβ-, and tau-related pathways determine polygenic risk for Alzheimer's disease.
PubMed ID 33303219(Europe PMC)
doi 10.1016/j.neurobiolaging.2020.11.009
Publication Date Nov. 12, 2020
Journal Neurobiol Aging
Author(s) Lawingco T, Chaudhury S, Brookes KJ, Guetta-Baranes T, Guerreiro R, Bras J, Hardy J, Francis P, Thomas A, Belbin O, Morgan K.
Released in PGS Catalog: June 12, 2024

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
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E - PGS Evaluation
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PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS004918
(PRS8_Synapse)
 PGP000649 |
Lawingco T et al. Neurobiol Aging (2020)
 Late-onset Alzheimers disease (based on SNPs in genes involved in synaptic function) late-onset Alzheimer's disease 8
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004918/ScoringFiles/PGS004918.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM021384 PGS004918
(PRS8_Synapse)
 PSS011719|
European Ancestry|
136 individuals
 PGP000649 |
Lawingco T et al. Neurobiol Aging (2020)
 Reported Trait: Late-onset Alzheimer's disease — AUROC: 0.731 — — —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS011719 Samples used in this study were extracted from autopsied brain tissue. Samples were taken from cognitively normal individuals witth a dementia rating of 0 (controls) and from late-onset Alzheimer's disease (LOAD) patients who had a clinical diagnosis of dementia due to AD and neuropathological confirmation of AD. —
[
  • 56 cases
  • , 80 controls
]
,
39.0 % Male samples
 — European — BfDR —