Polygenic Score (PGS) ID: PGS000823

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: July 29, 2021
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Score Details

Score Construction
PGS Name GRS23_AD
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build NR
Number of Variants 23
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000207
Citation (link to publication) van der Lee SJ et al. Lancet Neurol (2018)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 56.6%
  • European
  • Hispanic or Latin American
European: 34%
Not Reported: 9.5%
361,206 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST001025
Europe PMC: 21460840
 20,373 individuals European
(France)		 ADNI, EADI, GERAD, TGEN
GWAS Catalog: GCST001026
Europe PMC: 21460841
 15,675 individuals European 8 cohorts
  • ACTS
  • ,ADC
  • ,ADNI
  • ,GENADA
  • ,MIRAGE
  • ,NIA-LOAD
  • ,TGEN
  • ,UM/VU/MSSM
GWAS Catalog: GCST000682
Europe PMC: 20460622
 25,610 individuals European, Hispanic or Latin American 6 cohorts
  • AGES
  • ,CHS
  • ,FHS
  • ,MAYO
  • ,RS
  • ,TGEN
GWAS Catalog: GCST000480
Europe PMC: 19734903
 7,360 individuals European 3C
GWAS Catalog: GCST000479
Europe PMC: 19734902
 11,789 individuals European 13 cohorts
  • ALS
  • ,ART
  • ,B58C
  • ,Bonn
  • ,CORIELL
  • ,HNR
  • ,KORA
  • ,MAYO
  • ,MRC
  • ,NIMH
  • ,UCL-LASER
  • ,UCL-PRION
  • ,WASHU
GWAS Catalog: GCST001743
Europe PMC: 23150908
 12,438 individuals European RS, TOP, UM, deCODE
Europe PMC: 25862742
[
  • 29,054 cases
  • , 114,824 controls
]
 European, NR 6 cohorts
  • ADGC
  • ,CHARGE
  • ,DemGene
  • ,EADI
  • ,GERAD
  • ,deCODE
GWAS Catalog: GCST002817
Europe PMC: 25778476
 34,152 individuals Not reported 8 cohorts
  • ADGC
  • ,AGES
  • ,CHARGE
  • ,CHS
  • ,EADI
  • ,FHS
  • ,GERAD
  • ,RS
Europe PMC: 24041969
[
  • 12,967 cases
  • , 19,631 controls
]
 European, NR NR
Europe PMC: 23150934
[
  • 1,092 cases
  • , 1,107 controls
]
 European, NR NR
GWAS Catalog: GCST002245
Europe PMC: 24162737
 55,134 individuals European 19 cohorts
  • ACT
  • ,ADC
  • ,ADNI
  • ,AGES
  • ,CHS
  • ,EADI
  • ,FHS
  • ,GERAD
  • ,GSK
  • ,LOAD
  • ,MAYO
  • ,MIRAGE
  • ,OHSU
  • ,ROSMAP
  • ,RS
  • ,TGEN
  • ,UMVUMSS
  • ,UPITT
  • ,WASHU

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
PPM002216 PSS001080|
European Ancestry|
12,255 individuals
 PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
 Reported Trait: Incident dementia at age 85 in individuals homozygous for APOE ε4 — — Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.00022 Mortality —
PPM002218 PSS001080|
European Ancestry|
12,255 individuals
 PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
 Reported Trait: Incident dementia at age 90 — — Cumulative risk p-value (top 33.3% vs bottom 33.3%): 5.20e-13 Mortality —
PPM002219 PSS001081|
European Ancestry|
12,978 individuals
 PGP000208 |
Riaz M et al. Aging Cell (2021)
|Ext.		 Reported Trait: Incident all-cause dementia — — Hazard Ratio (HR, top 33.3% vs bottom 33.3%): 1.36 [1.04, 1.76] Age at enrolment, sex —
PPM002220 PSS001081|
European Ancestry|
12,978 individuals
 PGP000208 |
Riaz M et al. Aging Cell (2021)
|Ext.		 Reported Trait: Incident all-cause dementia — — Hazard Ratio (HR, top 33.3% vs bottom 33.3%): 1.36 [1.04, 1.77] Age at enrolment, sex, competing risk of death —
PPM002215 PSS001080|
European Ancestry|
12,255 individuals
 PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
 Reported Trait: Incident Alzheimer's disease at age 80 in individuals homozygous for APOE ε4 — — Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.0056 Non-Alzheimer's disease dementia, mortality —
PPM002217 PSS001080|
European Ancestry|
12,255 individuals
 PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
 Reported Trait: Incident Alzheimer's disease at age 85 — — Cumulative risk p-value (top 33.3% vs bottom 33.3%): 7.90e-14 Non-Alzheimer's disease dementia, mortality —
PPM002214 PSS001080|
European Ancestry|
12,255 individuals
 PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
 Reported Trait: Incident Alzheimer's disease at age 85 in individuals homozygous for APOE ε4 — — Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.0085 Non-Alzheimer's disease dementia, mortality —

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
PSS001080 Cases included incident Alzheimer's disease (AD) and other types of incident dementia. Of the 1,609 dementia cases, 1,262 were individuals with AD and 347 were individuals with other types of dementia excluding AD. A consensus panel led by a consultant neurologist established the final diagnosis according to standard criteria for dementia (Diagnostic and Statistical Manual of Mental Disorders III-revised) and Alzheimer’s disease (National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer’s Disease and Related Disorders Association). Of the total 12,255 individuals, APOE genotypes were available for 11,375. From those genotyped, 261 individuals were homozygous for APOE ε4 (ε4/ε4). Of the 261 ε4/ε4 individuals, 72 had AD whilst 11 had other types of dementia excluding AD. Median = 10.9 years
[
  • 1,609 cases
  • , 10,646 controls
]
,
41.5 % Male samples
 European
(Dutch)		 — RS —
PSS001081 Cases were individuals with incident-all cause dementia. Dementia was diagnosed using Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria. Diagnosis date was recorded as date of trigger. Dementia cases were sub-classified into either 'probable Alzheimer's Disease (AD)', 'possible AD' or 'non-dementia AD' using the 2011 NIA-Alzheimer's Association core clinical criteria. Of the 324 cases, 143 were classified as 'probable AD', 176 were classified as 'possible AD' and 5 were classified as 'non-AD related dementia'. Median = 4.5 years
IQR = [2.1, 5.7] years
[
  • 324 cases
  • , 12,654 controls
]
,
45.0 % Male samples
 Mean = 75.05 years
Sd = 4.2 years		 European — ASPREE —