Polygenic Score (PGS) ID: PGS000876

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: Aug. 26, 2021
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRS31_AD
Development Method
Name Genome-wide significant variants
Parameters p<5e-8
Variants
Original Genome Build GRCh37
Number of Variants 31
Effect Weight Type ln(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000222
Citation (link to publication) Leonenko G et al. Ann Clin Transl Neurol (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
43,708 individuals (100%)
PGS Evaluation
European: 100%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 24162737
[
  • 13,831 cases
  • , 29,877 controls
]
,
40.67 % Male samples
European 17 cohorts
  • ADC
  • ,ADNI
  • ,AGES
  • ,CHARGE
  • ,CHS
  • ,EADI
  • ,FHS
  • ,GSK
  • ,MAYO
  • ,MIRAGE
  • ,NIA-LOAD
  • ,ROSMAP
  • ,RS
  • ,TGEN
  • ,UMVUMSS
  • ,WASHU
  • ,eMERGE

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
PPM002505 PSS001127|
European Ancestry|
8,415 individuals
PGP000222 |
Leonenko G et al. Ann Clin Transl Neurol (2019)
Reported Trait: Age at Alzheimer's disease onset β: 0.13 (0.02) Gender, PCs (1-3), APOE(ε2 + ε4) Due to SNP availability issues in the dataset, only 25 out of the 31 variants used to construct the polygenic risk score were used.
PPM002506 PSS001125|
European Ancestry|
9,903 individuals
PGP000222 |
Leonenko G et al. Ann Clin Transl Neurol (2019)
Reported Trait: Age at Alzheimer's disease onset β: 0.28 (0.04) Gender, PCs (1-3), APOE ε2, APOE ε4
PPM002507 PSS001126|
European Ancestry|
4,100 individuals
PGP000222 |
Leonenko G et al. Ann Clin Transl Neurol (2019)
Reported Trait: Age at Alzheimer's disease onset in individuals above the age of 55 β: 0.29 (0.03) Gender, PCs (1-3), APOE ε2, APOE ε4

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
PSS001125 Cases included individuals with Alzheimer's disease.
[
  • 2,626 cases
  • , 7,277 controls
]
European 11 cohorts
  • ART
  • ,B58C
  • ,Bonn
  • ,GERAD
  • ,HNR
  • ,KORA
  • ,MRC
  • ,NIMH
  • ,UCL-LASER
  • ,UCL-PRION
  • ,WASHU
PSS001126 All individuals were aged 55 and above. Cases include individuals with Alzheimer's disease.
[
  • 2,575 cases
  • , 1,525 controls
]
European 11 cohorts
  • ART
  • ,B58C
  • ,Bonn
  • ,GERAD
  • ,HNR
  • ,KORA
  • ,MRC
  • ,NIMH
  • ,UCL-LASER
  • ,UCL-PRION
  • ,WASHU
PSS001127 Cases included individuals with Alzheimer's disease.
[
  • 2,384 cases
  • , 6,031 controls
]
European 11 cohorts
  • ART
  • ,B58C
  • ,Bonn
  • ,GERAD
  • ,HNR
  • ,KORA
  • ,MRC
  • ,NIMH
  • ,UCL-LASER
  • ,UCL-PRION
  • ,WASHU