Polygenic Score (PGS) ID: PGS001775

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: Nov. 25, 2021
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Score Details

Score Construction
PGS Name PRS39_AD
Development Method
Name Genome-wide significant variants
Parameters Imputation (r^2) = 0.98
Variants
Original Genome Build NR
Number of Variants 39
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000255
Citation (link to publication) Ebenau JL et al. Alzheimers Dement (Amst) (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
98,100 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: GCST007511
Europe PMC: 30820047
 63,926 individuals European ADGC, CHARGE, EADI, GERAD
GWAS Catalog: GCST005549
Europe PMC: 28714976
 34,174 individuals European ADGC, CHARGE, GERAD, PERADES

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
PPM009238 PSS007663|
European Ancestry|
532 individuals
 PGP000255 |
Ebenau JL et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Other dementia (excluding all-type dementia and Alzheimer's disease) HR: 0.5 [0.3, 0.9] — — Age, sex, population substructure, Mini-Mental State Examination (predictor: APOE ε4 allele or normalized PRS, outcome: clinical progression to dementia) —
PPM009237 PSS007663|
European Ancestry|
532 individuals
 PGP000255 |
Ebenau JL et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Alzheimer's disease dementia HR: 1.7 [1.1, 2.8] — — Age, sex, population substructure, Mini-Mental State Examination (predictor: APOE ε4 allele or normalized PRS, outcome: clinical progression to dementia) —

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
PSS007663 Cases were individuals with dementia. Of the 82 cases with dementia, 41 had all-type dementia, 25 had Alzheimer's disease (AD) dementia and 16 had other types of dementia. —
[
  • 82 cases
  • , 450 controls
]
 — European — AmDem, SCIENCe —