Polygenic Score (PGS) ID: PGS004600

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: Jan. 26, 2024
Download Score FTP directory
Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
Development Method
Name Genome-wide significant SNPs
Parameters p < 5e-8, excluding APOE variants
Original Genome Build hg19
Number of Variants 83
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000578
Citation (link to publication) Tomassen J et al. BMC Neurol (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
487,511 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: GCST90027158
Europe PMC: 35379992
487,511 individuals European NR

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM020755 PSS011392|
European Ancestry|
276 individuals
PGP000578 |
Tomassen J et al. BMC Neurol (2022)
Reported Trait: Memory function over time β: -0.04 (0.01) age, sex, center, education
PPM020756 PSS011392|
European Ancestry|
276 individuals
PGP000578 |
Tomassen J et al. BMC Neurol (2022)
Reported Trait: Positive amyloid-beta status OR: 1.43 [1.02, 2.0] age, sex, center, education

Evaluated Samples

PGS Sample Set ID
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
PSS011392 Used the following tests to assess memory performance: the total immediate recall and delayed recall of the Rey Auditory Verbal Learning Test (RAVLT), the twenty minute recall of the Rey Complex Figure Test (RCFT), the total errors of the Cambridge Neuropsychological Test Automated Battery (CANTAB) Paired Associate Learning (PAL) test, and the total score of the Face Name Associated Memory Examination (FNAME) names and occupations delayed recall. Mean = 2.0 years
Sd = 0.4 years
276 individuals,
37.0 % Male samples
Mean = 74.7 years
Sd = 9.7 years
European ACPRC, NTR Cognitively unimpaired. Includes 97 complete twin pairs.