Polygenic Score (PGS) ID: PGS004918

Predicted Trait
Reported Trait Late-onset Alzheimers disease (based on SNPs in genes involved in synaptic function)
Mapped Trait(s) late-onset Alzheimer's disease (EFO_1001870)
Released in PGS Catalog: June 12, 2024
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Score Details

Score Construction
PGS Name PRS8_Synapse
Development Method
Name Clumping and Thresholding (C+T)
Parameters r2>0.1, p<1e-6
Variants
Original Genome Build GRCh37
Number of Variants 8
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000649
Citation (link to publication) Lawingco T et al. Neurobiol Aging (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
55,134 individuals (100%)
Score Development/Training
European: 100%
439 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST002245
Europe PMC: 24162737
 55,134 individuals European ADGC, CHARGE, EADI, GERAD
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 302 cases
  • , 137 controls
]
,
51.0 % Male samples
 European BfDR 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. — — — —

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) 		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 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 —