PGS Publication: PGP000698

Publication Information (EuropePMC)
Title Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.
PubMed ID 37855447(Europe PMC)
doi 10.1002/alz.13506
Publication Date Oct. 19, 2023
Journal Alzheimers Dement
Author(s) Gorijala P, Aslam MM, Dang LT, Xicota L, Fernandez MV, Sung YJ, Fan KH, Feingold E, Surace EI, Chhatwal JP, Hom CL, Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI), NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators, Hartley SL, Hassenstab J, Perrin RJ, Mapstone M, Zaman SH, Ances BM, Kamboh MI, Lee JH, Cruchaga C.
Released in PGS Catalog: Dec. 16, 2024

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:
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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated 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)
PGS002280
(GRS83_AD)
 PGP000309 |
Bellenguez C et al. Nat Genet (2022)
 Alzheimer's disease Alzheimer disease 83
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002280/ScoringFiles/PGS002280.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
PPM022295 PGS002280
(GRS83_AD)
 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 PGS002280
(GRS83_AD)
 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 PGS002280
(GRS83_AD)
 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
PSS011907 — —
[
  • 395 cases
  • , 2,890 controls
]
 — European — ADNI, Knight-ADRC —
PSS011908 — —
[
  • 2,259 cases
  • , 2,890 controls
]
 — European — ADNI, Knight-ADRC —
PSS011906 — —
[
  • 1,413 cases
  • , 2,890 controls
]
 — European — NIA-LOAD —