PGS Catalog - PGS004600 / Alzheimer's disease (Polygenic Score)

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

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Score Details

Score Construction
PGS Name	PRS_AD83
Development Method
Name	Genome-wide significant SNPs
Parameters	p < 5e-8, excluding APOE variants
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 (PSS)	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 (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
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.