Polygenic Score (PGS) ID: PGS000054

Predicted Trait
Reported Trait Alzheimer's disease (late onset)
Mapped Trait(s) late-onset Alzheimers disease (EFO_1001870)
Released in PGS Catalog: Dec. 18, 2019
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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
PPM000138 PSS000084 PGP000039 Tosto G et al. (2017) Reported Trait: Alzheimer's disease (age-at-onset) β: -0.86 (0.15)
PPM000135 PSS000084 PGP000039 Tosto G et al. (2017) Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.73 [1.57, 1.93] Age, sex
PPM000136 PSS000084 PGP000039 Tosto G et al. (2017) Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.71 [1.55, 1.9] Age, sex, APOE e4

Evaluated Samples

PGS Sample Set 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
PSS000084 EFIGA recruited patients from families multiply affected by LOAD, but of Caribbean Hispanic ancestry from the Dominican Republic and New York. Families were recruited after confirming diagnoses in the probands. Family members with dementia were also interviewed and neurologically evaluated. Clinical diagnoses were made in a consensus diagnostic conference by a panel of neurologists, neuropsychologists, and psychiatrists. Detailed description is available elsewhere.14 For these family-based studies, we included data from families for which their members (1) were 60 years or older at the time of enrollment; (2) had a diagnosis of probable or possible LOAD according to National Institute of Neurological and Communicative Disorders and Stroke–Alzheimer’s Disease and Related Disorders Association (NINDS-ADRDA) criteria; (3) had available pedigree information and covariates.
  • 2,155 cases
  • , 1,169 controls
34.0 % Male samples
Hispanic or Latin American Samples are described as "Carribbean Hispanic" EFIGA