Polygenic Score (PGS) ID: PGS002280

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: April 13, 2022
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Score Details

Score Construction
PGS Name GRS83_AD
Development Method
Name Genome-wide significant variants
Parameters excluding APOE
Variants
Original Genome Build GRCh38
Number of Variants 83
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000309
Citation (link to publication) Bellenguez C et al. Nat Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
487,511 individuals (100%)
PGS Evaluation
European: 100%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90027158
[
  • 85,934 cases
  • , 401,577 controls
]
 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
PPM012966 PSS009635|
European Ancestry|
17,545 individuals
 PGP000309 |
Bellenguez C et al. Nat Genet (2022)
 Reported Trait: Conversion to Alzheimer disease HR: 1.076 [1.064, 1.088] — Hazard Ratio (HR; highest vs. lowest decile): 1.93 [1.75, 2.13] Age, sex, number of APOE-ε4 and APOE-ε2 alleles and genetic principal components Fixed-effect meta-analysis
PPM012967 PSS009634|
European Ancestry|
4,114 individuals
 PGP000309 |
Bellenguez C et al. Nat Genet (2022)
 Reported Trait: Conversion to Alzheimer disease (in mild cognitive impairment) HR: 1.056 [1.04, 1.072] — Hazard Ratio (HR; highest vs. lowest decile): 1.63 [1.42, 1.87] Age, sex, number of APOE-ε4 and APOE-ε2 alleles and genetic principal components Fixed-effect meta-analysis
PPM012968 PSS009635|
European Ancestry|
17,545 individuals
 PGP000309 |
Bellenguez C et al. Nat Genet (2022)
 Reported Trait: Conversion to Alzheimer disease within 5 years — — NRI (net reclassification improvement): 0.248 [0.159, 0.336]
Delta C-index: 0.002 [0.0004, 0.004]		 Age, sex, number of APOE-ε4 and APOE-ε2 alleles and genetic principal components Fixed-effect meta-analysis
PPM012969 PSS009635|
European Ancestry|
17,545 individuals
 PGP000309 |
Bellenguez C et al. Nat Genet (2022)
 Reported Trait: Conversion to Alzheimer disease within 3 years (in mild cognitive impairment) — — NRI (net reclassification improvement): 0.232 [0.14, 0.325]
Delta C-index: 0.007 [0.001, 0.012]		 Age, sex, number of APOE-ε4 and APOE-ε2 alleles and genetic principal components Fixed-effect meta-analysis
PPM022295 PSS011907|
European Ancestry|
3,285 individuals
 PGP000698 |
Gorijala P et al. Alzheimers Dement (2023)
|Ext.		 Reported Trait: Sporadic early-onset Alzheimer's disease — — Odds ratio (OR, high vs low PGS tertile): 2.56 [1.95, 3.39] Sex —
PPM022296 PSS011906|
European Ancestry|
4,303 individuals
 PGP000698 |
Gorijala P et al. Alzheimers Dement (2023)
|Ext.		 Reported Trait: Familial late-onset Alzheimer's disease — — Odds ratio (OR, high vs low PGS tertile): 2.31 [1.97, 2.72] Sex —
PPM022297 PSS011908|
European Ancestry|
5,149 individuals
 PGP000698 |
Gorijala P et al. Alzheimers Dement (2023)
|Ext.		 Reported Trait: Sporadic late-onset Alzheimer's disease — — Odds ratio (OR, high vs low PGS tertile): 1.67 [1.46, 1.91] Sex —

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
PSS009634 — — 4,114 individuals — European — ADC DCN, FACE, HAN, UAN, UHA, AMC, ZIM
PSS009635 — — 17,545 individuals — European — 3C, FHS, MAS, RS AgeCoDe, VITA
PSS011906 — —
[
  • 1,413 cases
  • , 2,890 controls
]
 — European — NIA-LOAD —
PSS011907 — —
[
  • 395 cases
  • , 2,890 controls
]
 — European — ADNI, Knight-ADRC —
PSS011908 — —
[
  • 2,259 cases
  • , 2,890 controls
]
 — European — ADNI, Knight-ADRC —