Polygenic Score (PGS) ID: PGS000053

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

Score Construction
PGS Name ALZ21_NIA-LOAD
Development Method
Name Genome-wide significant variants
Parameters P<5x10e-8 in discovery samples
Variants
Original Genome Build GRCh37
Number of Variants 21
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000039
Citation (link to publication) Tosto G et al. Neurology (2017)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
55,134 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST002245
Europe PMC: 24162737
 55,134 individuals European 19 cohorts
  • ACT
  • ,ADC
  • ,ADNI
  • ,AGES
  • ,CHS
  • ,EADI
  • ,FHS
  • ,GERAD
  • ,GSK
  • ,LOAD
  • ,MAYO
  • ,MIRAGE
  • ,OHSU
  • ,ROSMAP
  • ,RS
  • ,TGEN
  • ,UMVUMSS
  • ,UPITT
  • ,WASHU

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) 		PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000137 PSS000085|
European Ancestry|
4,792 individuals
 PGP000039 |
Tosto G et al. Neurology (2017)
 Reported Trait: Alzheimer's disease (age-at-onset) β: -0.7 (0.15) years — — — —
PPM000133 PSS000085|
European Ancestry|
4,792 individuals
 PGP000039 |
Tosto G et al. Neurology (2017)
 Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29 [1.21, 1.37] — — Age, sex —
PPM000134 PSS000085|
European Ancestry|
4,792 individuals
 PGP000039 |
Tosto G et al. Neurology (2017)
 Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29 [1.21, 1.38] — — Age, sex, APOE e4 —

Evaluated Samples

PGS Sample Set ID
(PSS) 		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
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 —