PGS Publication: PGP000718

Publication Information (EuropePMC)
Title Polygenic score integrating neurodegenerative and vascular risk informs dementia risk stratification.
PubMed ID 40042447(Europe PMC)
doi 10.1002/alz.70014
Publication Date March 1, 2025
Journal Alzheimers Dement
Author(s) D'Aoust T, Clocchiatti-Tuozzo S, Rivier CA, Mishra A, Hachiya T, Grenier-Boley B, Soumaré A, Duperron MG, Le Grand Q, Bouteloup V, Proust-Lima C, Samieri C, Neuffer J, Sargurupremraj M, Chêne G, Helmer C, Thibault M, Amouyel P, Lambert JC, Kamatani Y, Jacqmin-Gadda H, Tregouët DA, Inouye M, Dufouil C, Falcone GJ, Debette S.
Released in PGS Catalog: April 17, 2025

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS005170
(iPRS_DEM)
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 All-cause dementia dementia 1,320,229
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005170/ScoringFiles/PGS005170.txt.gz

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) 		Evaluated Score 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
PPM022476 PGS005170
(iPRS_DEM)
 PSS011959|
European Ancestry|
1,414 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.04 [0.88, 1.23] — — age at baseline, age^2, 10 genetic PCs, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022477 PGS005170
(iPRS_DEM)
 PSS011960|
European Ancestry|
2,288 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.23 [1.07, 1.41] — — age at baseline, age^2, 10 genetic PCs, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022478 PGS005170
(iPRS_DEM)
 PSS011957|
European Ancestry|
2,165 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia (>80 years) HR: 1.16 [1.01, 1.32] — — age at baseline, age^2, sex,10 genetic PCs, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022479 PGS005170
(iPRS_DEM)
 PSS011956|
European Ancestry|
3,201 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia (<80 years) HR: 1.17 [0.96, 1.43] — — age at baseline, age^2, sex, 10 genetic PCs, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022480 PGS005170
(iPRS_DEM)
 PSS011958|
European Ancestry|
704 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia (APOE E4 carriers) HR: 1.194 [0.98, 1.46] — — age at baseline, age^2, sex,10 genetic PCs Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022481 PGS005170
(iPRS_DEM)
 PSS011961|
European Ancestry|
2,928 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia (APOE E4 non-carriers) HR: 1.13 [0.99, 1.28] — — age at baseline, age^2, sex, 10 genetic PCs Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022482 PGS005170
(iPRS_DEM)
 PSS011966|
European Ancestry|
2,032 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.25 [1.11, 1.42] AUROC: 0.761 — age at baseline, age^2, sex, the first 10 genetic principal components (PCs) of population stratification, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported. Prediction was assessed at 5-year follow-up using time-dependent AUC over 2,000 bootstrap replications.
PPM022483 PGS005170
(iPRS_DEM)
 PSS011969|
European Ancestry|
782 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.17 [0.97, 1.4] — — age at baseline, 10 genetic PCs, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022484 PGS005170
(iPRS_DEM)
 PSS011970|
European Ancestry|
1,250 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.3 [1.1, 1.54] — — age at baseline, 10 genetic PCs, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022486 PGS005170
(iPRS_DEM)
 PSS011967|
European Ancestry|
1,758 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia (<80 years) HR: 1.3 [1.11, 1.52] — — age at baseline, sex, 10 genetic PCs, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022487 PGS005170
(iPRS_DEM)
 PSS011971|
European Ancestry|
605 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia (APOE E4 carriers) HR: 1.33 [1.12, 1.58] — — age at baseline, sex,10 genetic PCs Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022488 PGS005170
(iPRS_DEM)
 PSS011972|
European Ancestry|
1,427 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia (APOE E4 non-carriers) HR: 1.15 [0.96, 1.37] — — age at baseline, sex, 10 genetic PCs Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.
PPM022489 PGS005170
(iPRS_DEM)
 PSS011964|
European Ancestry|
130,797 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.28 [1.09, 1.51] — — age, sex, five genetic principal components, and APOE dosage —
PPM022490 PGS005170
(iPRS_DEM)
 PSS011962|
African Ancestry|
55,498 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.06 [0.75, 1.45] — — age, sex, five genetic principal components, and APOE dosage —
PPM022491 PGS005170
(iPRS_DEM)
 PSS011963|
East Asian Ancestry|
5,640 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 5.29 [1.43, 34.36] — — age, sex, five genetic principal components, and APOE dosage —
PPM022492 PGS005170
(iPRS_DEM)
 PSS011965|
Hispanic or Latin American Ancestry|
44,266 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.09 [0.78, 1.68] — — age, sex, five genetic principal components, and APOE dosage —
PPM022475 PGS005170
(iPRS_DEM)
 PSS011955|
European Ancestry|
3,702 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia HR: 1.15 [1.03, 1.28] AUROC: 0.756 — age at baseline, age^2, sex, the first 10 genetic principal components (PCs) of population stratification, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported. Prediction was assessed at 10-year follow-up using time-dependent AUC over 2,000 bootstrap replications.
PPM022485 PGS005170
(iPRS_DEM)
 PSS011968|
European Ancestry|
638 individuals
 PGP000718 |
D'Aoust T et al. Alzheimers Dement (2025)
 Reported Trait: Incident all-cause dementia (>80 years) HR: 1.13 [0.92, 1.38] — — age at baseline, sex,10 genetic PCs, and dosage of APOE ε4 and APOE ε2 alleles Fine-Gray Regression models were used, sub-distribution hazard ratios are reported.

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
PSS011971 — — 605 individuals — European
(French)		 — MEMENTO —
PSS011972 — — 1,427 individuals — European
(French)		 — MEMENTO —
PSS011955 — —
[
  • 361 cases
  • , 3,341 controls
]
,
38.0 % Male samples
 Mean = 74.2 years
Sd = 5.5 years		 European
(French)		 — 3C —
PSS011956 — —
[
  • 123 cases
  • , 3,078 controls
]
 — European
(French)		 — 3C —
PSS011957 — —
[
  • 238 cases
  • , 1,927 controls
]
 — European
(French)		 — 3C —
PSS011958 — —
[
  • 90 cases
  • , 614 controls
]
 — European
(French)		 — 3C —
PSS011959 — —
[
  • 141 cases
  • , 1,273 controls
]
,
100.0 % Male samples
 — European
(French)		 — 3C —
PSS011960 — —
[
  • 220 cases
  • , 2,068 controls
]
,
0.0 % Male samples
 — European
(French)		 — 3C —
PSS011961 — —
[
  • 267 cases
  • , 2,661 controls
]
 — European
(French)		 — 3C —
PSS011962 — —
[
  • 282 cases
  • , 55,216 controls
]
,
42.0 % Male samples
 Mean = 49.0 years
Sd = 15.0 years		 African American or Afro-Caribbean — AllofUs —
PSS011963 — —
[
  • 17 cases
  • , 5,623 controls
]
,
36.0 % Male samples
 Mean = 44.0 years
Sd = 17.0 years		 East Asian — AllofUs —
PSS011964 — —
[
  • 1,274 cases
  • , 129,523 controls
]
,
40.0 % Male samples
 Mean = 56.0 years
Sd = 17.0 years		 European — AllofUs —
PSS011965 — —
[
  • 228 cases
  • , 44,038 controls
]
,
33.0 % Male samples
 Mean = 45.0 years
Sd = 16.0 years		 Hispanic or Latin American — AllofUs —
PSS011966 — —
[
  • 284 cases
  • , 1,748 controls
]
,
39.0 % Male samples
 Mean = 70.9 years
Sd = 8.62 years		 European
(French)		 — MEMENTO —
PSS011967 — —
[
  • 172 cases
  • , 1,586 controls
]
 — European
(French)		 — MEMENTO —
PSS011968 — —
[
  • 112 cases
  • , 526 controls
]
 — European
(French)		 — MEMENTO —
PSS011969 — —
[
  • 133 cases
  • , 649 controls
]
,
100.0 % Male samples
 — European
(French)		 — MEMENTO —
PSS011970 — —
[
  • 151 cases
  • , 1,099 controls
]
,
0.0 % Male samples
 — European
(French)		 — MEMENTO —