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(Variants and weights)

Polygenic Score (PGS) ID: PGS000053

Predicted Trait

Reported Trait: Alzheimer's disease (late onset)
Mapped Trait(s) (Experimental Factor Ontology (EFO) IDs): late-onset Alzheimers disease

Score Details


Original Genome Build: GRCh37
Number of Variants: 21

PGS Development Method: Genome-wide significant SNPs
PGS Development Details/Relevant Parameters: P<5x10e-8 in discovery samples

Citation: Tosto G et al. Neurology (2017) | PGS Catalog Publication ID: PGP000039

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002245
PubMed: 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 (PPM) ID PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000133 PSS000085 Tosto G et al. (2017) Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29 [1.21 - 1.37] Age, sex
PPM000134 PSS000085 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
PPM000137 PSS000085 Tosto G et al. (2017) Reported Trait: Alzheimer's disease (age-at-onset) β: -0.7

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers 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) 4,792 individuals
[ 2,128 cases, 2,664 controls]
38.00 %% Male samples
European NIA-LOAD