Polygenic Score (PGS) ID: PGS004863

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: April 18, 2024
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Score Details

Score Construction
PGS Name PRS74_AD
Development Method
Name Genome-wide significant SNPs
Parameters MAF<3%, r2=0.3
Variants
Original Genome Build GRCh38
Number of Variants 74
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000609
Citation (link to publication) Sleiman PM et al. Alzheimers Dement (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 98.7%
African: 1%
East Asian: 0.4%
Greater Middle Eastern: 0.02%
520,774 individuals (100%)
PGS Evaluation
East Asian: 60%
European: 20%
South Asian: 20%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST004246
Europe PMC: 28183528
 26,320 individuals European NR
GWAS Catalog: GCST004246
Europe PMC: 28183528
 4,983 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST004246
Europe PMC: 28183528
 1,845 individuals East Asian NR
GWAS Catalog: GCST004246
Europe PMC: 28183528
 115 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) NR
GWAS Catalog: GCST90027158
Europe PMC: 35379992
 487,511 individuals European 11 cohorts
  • Bonn
  • ,CCHS
  • ,DemGene
  • ,EADB
  • ,EADI
  • ,GERAD
  • ,GR@ACE
  • ,NxC
  • ,PERADES
  • ,RS
  • ,UKB

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
PPM021094 PSS011524|
East Asian Ancestry|
528 individuals
 PGP000609 |
Sleiman PM et al. Alzheimers Dement (2023)
 Reported Trait: Cortical amyloid positivity OR: 1.186 [0.992, 1.418] AUROC: 0.751 [0.705, 0.796] — APOE haplotype, age, sex, 3 PCs —
PPM021095 PSS011525|
East Asian Ancestry|
696 individuals
 PGP000609 |
Sleiman PM et al. Alzheimers Dement (2023)
 Reported Trait: Clinical Dementia Rating global score ≥ 1 OR: 1.04 [0.871, 1.243] AUROC: 0.637 [0.586, 0.689] — APOE haplotype, age, sex, 3 PCs —
PPM021096 PSS011522|
South Asian Ancestry|
718 individuals
 PGP000609 |
Sleiman PM et al. Alzheimers Dement (2023)
 Reported Trait: All-cause dementia OR: 1.11 [0.94, 1.33] AUROC: 0.69 [0.62, 0.76] — APOE haplotype, age, sex, 3 PCs —
PPM021097 PSS011523|
East Asian Ancestry|
2,000 individuals
 PGP000609 |
Sleiman PM et al. Alzheimers Dement (2023)
 Reported Trait: Alzheimer's disease or mild cognitive impairment OR: 1.12 AUROC: 0.625 [0.601, 0.65] — APOE haplotype, age, sex, 3 PCs —
PPM021098 PSS011526|
European Ancestry|
229,265 individuals
 PGP000609 |
Sleiman PM et al. Alzheimers Dement (2023)
 Reported Trait: Alzheimer's disease or dementia OR: 1.003 [0.99, 1.007] AUROC: 0.746 [0.738, 0.754] — APOE haplotype, age, sex, 3 PCs —

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
PSS011524 — —
[
  • 191 cases
  • , 337 controls
]
 — East Asian
(Korean)		 — BICWALZS —
PSS011525 — —
[
  • 157 cases
  • , 539 controls
]
 — East Asian
(Korean)		 — BICWALZS —
PSS011526 — —
[
  • 2,923 cases
  • , 226,342 controls
]
 — European
(British)		 — UKB —
PSS011522 — —
[
  • 104 cases
  • , 614 controls
]
 — South Asian
(Pakistani, Bangladeshi)		 — G&H —
PSS011523 — —
[
  • 1,000 cases
  • , 1,000 controls
]
 — East Asian
(Japanese)		 — NCGG —