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(Variants and weights)

Polygenic Score (PGS) ID: PGS000054

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
PPM000135 PSS000084 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 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
PPM000138 PSS000084 Tosto G et al. (2017) Reported Trait: Alzheimer's disease (age-at-onset) β: -0.86

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
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. 3,324 individuals
[ 2,155 cases, 1,169 controls]
34.00 %% Male samples
Hispanic or Latin American Samples are described as "Carribbean Hispanic" EFIGA