PGS Publication: PGP000016

Publication Information (EuropePMC)
Title Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.
PubMed ID 28323831(Europe PMC)
doi 10.1371/journal.pmed.1002258
Publication Date March 21, 2017
Journal PLoS Med
Author(s) Desikan RS, Fan CC, Wang Y, Schork AJ, Cabral HJ, Cupples LA, Thompson WK, Besser L, Kukull WA, Holland D, Chen CH, Brewer JB, Karow DS, Kauppi K, Witoelar A, Karch CM, Bonham LW, Yokoyama JS, Rosen HJ, Miller BL, Dillon WP, Wilson DM, Hess CP, Pericak-Vance M, Haines JL, Farrer LA, Mayeux R, Hardy J, Goate AM, Hyman BT, Schellenberg GD, McEvoy LK, Andreassen OA, Dale AM.
Released in PGS: Oct. 14, 2019

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000026 PHS PGP000016
Desikan RS et al. PLoS Med (2017)
Alzheimer’s Disease Alzheimer's disease 31 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000026/ScoringFiles/PGS000026.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000053 PGS000026 (PHS) PSS000036 PGP000016
Desikan RS et al. (2017)
Reported Trait: Alzheimer disease r (correlation between between binned quantiles of PHS-predicted and empirical age of AD onset): 0.9 APOE risk alleles (e2 and e4), age, sex, genetic PCs 1-5

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000036 Cases are patients with clinically diagnosed AD and compared to cognitively normal older individuals
[
  • 6,984 cases
  • , 10,972 controls
]
,
40.51 % Male samples
European ADGC ADGC Phase 2