Polygenic Score (PGS) ID: PGS000053

Predicted Trait
Reported Trait Alzheimer's disease (late onset)
Mapped Trait(s) late-onset Alzheimers disease (EFO_1001870)
Released in PGS: Dec. 18, 2019

Score Details

Score Construction
Original Genome Build GRCh37
Number of Variants 21
Development Method
Name Genome-wide significant SNPs
Parameters P<5x10e-8 in discovery samples
PGS Source
PGS Catalog Publication (PGP) ID PGP000039
Citation (link to publication) Tosto G et al. Neurology (2017)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002245
EuropePMC: 24162737
55,134 individuals European

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
PGS Sample Set 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
PPM000134 PSS000085 PGP000039
Tosto G et al. (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29[1.21, 1.38] Age, sex, APOE e4
PPM000133 PSS000085 PGP000039
Tosto G et al. (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29[1.21, 1.37] Age, sex
PPM000137 PSS000085 PGP000039
Tosto G et al. (2017)
Reported Trait: Alzheimer's disease (age-at-onset) β: -0.7

Evaluated Samples

PGS Sample Set ID
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000085 Selection criteria included (1) a proband who received a dianosis of definite or probable late onset Alzheimer's Disease (LOAD) with age at onset of at least 60 years; (2) a full sibling with definite, probable, or possible LOAD with age at onset after 60 years; (3) a related family member (first-,second-,or third-degree relative) of theaffected sibling pair and 60 years or older if unaffected, or 50 years or older if dianosed with LOAD or mild cognitive impairment (MCI)
  • 2,128 cases
  • , 2,664 controls
38.0 % Male samples
European NIA-LOAD