Polygenic Score (PGS) ID: PGS004952

Predicted Trait
Reported Trait Age-related macular degeneration
Mapped Trait(s) age-related macular degeneration (EFO_0001365)
Released in PGS Catalog: Sept. 19, 2024
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Score Details

Score Construction
PGS Name PRS52_AMD
Development Method
Name Genome-wide significant SNPs
Parameters NR
Variants
Original Genome Build NR
Number of Variants 52
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000673
Citation (link to publication) Herold JM et al. Invest Ophthalmol Vis Sci (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
33,976 individuals (100%)
PGS Evaluation
European: 100%
6 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST003219
Europe PMC: 26691988
 33,976 individuals European IAMDGC

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
PPM021759 PSS011783|
European Ancestry|
1,575 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Early age-related macular degeneration (Clinical Classification) OR: 1.13 [1.09, 1.16] AUROC: 64.2 — Age, sex, survey membership, 10 PCs —
PPM021760 PSS011784|
European Ancestry|
1,511 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Intermediate age-related macular degeneration (Clinical Classification) OR: 1.25 [1.2, 1.29] AUROC: 73.3 — Age, sex, survey membership, 10 PCs —
PPM021761 PSS011785|
European Ancestry|
1,232 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Late age-related macular degeneration (Clinical Classification) OR: 1.41 [1.32, 1.5] AUROC: 84.2 — Age, sex, survey membership, 10 PCs —
PPM021762 PSS011786|
European Ancestry|
1,780 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Mild early age-related macular degeneration (3CACSS) OR: 1.08 [1.04, 1.13] AUROC: 59.9 — Age, sex, survey membership, 10 PCs —
PPM021763 PSS011787|
European Ancestry|
1,696 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Moderate early age-related macular degeneration (3CACSS) OR: 1.29 [1.22, 1.37] AUROC: 76.3 — Age, sex, survey membership, 10 PCs —
PPM021764 PSS011788|
European Ancestry|
1,699 individuals
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Reported Trait: Severe early age-related macular degeneration (3CACSS) OR: 1.38 [1.29, 1.47] AUROC: 80.95 — Age, sex, survey membership, 10 PCs —

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
PSS011783 — —
[
  • 510 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS011784 — —
[
  • 446 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS011785 — —
[
  • 167 cases
  • , 1,065 controls
]
 — European — AugUR —
PSS011786 — —
[
  • 203 cases
  • , 1,577 controls
]
 — European — AugUR —
PSS011787 — —
[
  • 119 cases
  • , 1,577 controls
]
 — European — AugUR —
PSS011788 — —
[
  • 122 cases
  • , 1,577 controls
]
 — European — AugUR —