Trait: family history of Alzheimer’s disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009268
Description A reported family history of Alzheimer’s disease in one or more family members.
Trait category
Other measurement
Synonyms 3 synonyms
  • Alzheimer disease family history
  • Alzheimer’s disease family history
  • family history of Alzheimer disease

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
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)
PGS001347
(GBE_FH1263)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Family history of Alzheimer's/dementia family history of Alzheimer’s disease 139
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001347/ScoringFiles/PGS001347.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
PPM009216 PGS001347
(GBE_FH1263)
 PSS004059|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Alzheimer's/dementia (FH) — AUROC: 0.60815 [0.58401, 0.63228] R²: 0.02957
Incremental AUROC (full-covars): -0.00275
PGS R2 (no covariates): 0.00019
PGS AUROC (no covariates): 0.50162 [0.47638, 0.52686]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009217 PGS001347
(GBE_FH1263)
 PSS004060|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Alzheimer's/dementia (FH) — AUROC: 0.65316 [0.60391, 0.70242] R²: 0.05029
Incremental AUROC (full-covars): 0.01325
PGS R2 (no covariates): 0.00988
PGS AUROC (no covariates): 0.55047 [0.49474, 0.60619]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009218 PGS001347
(GBE_FH1263)
 PSS004061|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Alzheimer's/dementia (FH) — AUROC: 0.60962 [0.60006, 0.61918] R²: 0.03194
Incremental AUROC (full-covars): 0.01629
PGS R2 (no covariates): 0.00825
PGS AUROC (no covariates): 0.55082 [0.5403, 0.56135]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009219 PGS001347
(GBE_FH1263)
 PSS004062|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Alzheimer's/dementia (FH) — AUROC: 0.58721 [0.56379, 0.61063] R²: 0.01634
Incremental AUROC (full-covars): 0.00317
PGS R2 (no covariates): 0.00225
PGS AUROC (no covariates): 0.52129 [0.49619, 0.5464]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009220 PGS001347
(GBE_FH1263)
 PSS004063|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Alzheimer's/dementia (FH) — AUROC: 0.60904 [0.60337, 0.61471] R²: 0.03418
Incremental AUROC (full-covars): 0.02436
PGS R2 (no covariates): 0.01188
PGS AUROC (no covariates): 0.55827 [0.55209, 0.56446]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS004060 — —
[
  • 129 cases
  • , 1,575 controls
]
 — East Asian — UKB —
PSS004061 — —
[
  • 3,496 cases
  • , 21,409 controls
]
 — European non-white British ancestry UKB —
PSS004062 — —
[
  • 596 cases
  • , 7,235 controls
]
 — South Asian — UKB —
PSS004063 — —
[
  • 10,334 cases
  • , 57,091 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004059 — —
[
  • 561 cases
  • , 5,936 controls
]
 — African unspecified — UKB —