Polygenic Score (PGS) ID: PGS000026

Predicted Trait
Reported Trait Alzheimer’s Disease
Mapped Trait(s) Alzheimer's disease (EFO_0000249)
Released in PGS Catalog: Oct. 14, 2019
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Score Details

Score Construction
PGS Name PHS
Variants
Original Genome Build NR
Number of Variants 31
Development Method
Name Hazard model with stepwise selection of SNP inclusion
Parameters SNPs eligible for inclusion had a significane of p < 10−5
PGS Source
PGS Catalog Publication (PGP) ID PGP000016
Citation (link to publication) Desikan RS et al. PLoS Med (2017)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002245
EuropePMC: 24162737
[
  • 17,008 cases
  • , 37,154 controls
]
 European
Score Development/Training
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
Cases are patients with clinically diagnosed AD and compared to cognitively normal older individuals —
[
  • 6,409 cases
  • , 9,386 controls
]
,
40.19 % Male samples
 — European — ADGC ADGC Phase 1

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) 		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 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