PGS Publication: PGP000255

Publication Information (EuropePMC)
Title Risk of dementia in <i>APOE</i> ε4 carriers is mitigated by a polygenic risk score.
PubMed ID 34541285(Europe PMC)
doi 10.1002/dad2.12229
Publication Date Sept. 14, 2021
Journal Alzheimers Dement (Amst)
Author(s) Ebenau JL, van der Lee SJ, Hulsman M, Tesi N, Jansen IE, Verberk IMW, van Leeuwenstijn M, Teunissen CE, Barkhof F, Prins ND, Scheltens P, Holstege H, van Berckel BNM, van der Flier WM.
Released in PGS Catalog: Nov. 25, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
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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)
PGS001775
(PRS39_AD)
 PGP000255 |
Ebenau JL et al. Alzheimers Dement (Amst) (2021)
 Alzheimer's disease Alzheimer disease 39
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001775/ScoringFiles/PGS001775.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
PPM009238 PGS001775
(PRS39_AD)
 PSS007663|
European Ancestry|
532 individuals
 PGP000255 |
Ebenau JL et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Other dementia (excluding all-type dementia and Alzheimer's disease) HR: 0.5 [0.3, 0.9] — — Age, sex, population substructure, Mini-Mental State Examination (predictor: APOE ε4 allele or normalized PRS, outcome: clinical progression to dementia) —
PPM009237 PGS001775
(PRS39_AD)
 PSS007663|
European Ancestry|
532 individuals
 PGP000255 |
Ebenau JL et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Alzheimer's disease dementia HR: 1.7 [1.1, 2.8] — — Age, sex, population substructure, Mini-Mental State Examination (predictor: APOE ε4 allele or normalized PRS, outcome: clinical progression to dementia) —

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
PSS007663 Cases were individuals with dementia. Of the 82 cases with dementia, 41 had all-type dementia, 25 had Alzheimer's disease (AD) dementia and 16 had other types of dementia. —
[
  • 82 cases
  • , 450 controls
]
 — European — AmDem, SCIENCe —