PGS Publication: PGP000498

Publication Information (EuropePMC)
Title A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.
PubMed ID 37055258(Europe PMC)
doi 10.1016/j.ebiom.2023.104551
Publication Date April 11, 2023
Journal EBioMedicine
Author(s) Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA, CREAM Consortium, UK Biobank Eye and Vision Consortium.
Released in PGS Catalog: Sept. 1, 2023

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
Scoring File (FTP Link)
PGS003860
(PGS_RE)
PGP000498 |
Clark R et al. EBioMedicine (2023)
Refractive error refractive error measurement 767,867
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003860/ScoringFiles/PGS003860.txt.gz - Check Terms/Licenses

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)
Evaluated Score 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
PPM018722 PGS003860
(PGS_RE)
PSS011080|
European Ancestry|
6,000 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Low myopia AUROC: 0.728 [0.715, 0.741]
PPM018736 PGS003860
(PGS_RE)
PSS011083|
South Asian Ancestry|
4,641 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM6) AUROC: 0.706 [0.668, 0.743]
PPM018723 PGS003860
(PGS_RE)
PSS011078|
African Ancestry|
4,089 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Low myopia AUROC: 0.582 [0.563, 0.601]
PPM018725 PGS003860
(PGS_RE)
PSS011079|
East Asian Ancestry|
978 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Low myopia AUROC: 0.653 [0.619, 0.687]
PPM018726 PGS003860
(PGS_RE)
PSS011080|
European Ancestry|
6,000 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate myopia AUROC: 0.754 [0.738, 0.77]
PPM018727 PGS003860
(PGS_RE)
PSS011078|
African Ancestry|
4,089 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate myopia AUROC: 0.596 [0.566, 0.626]
PPM018728 PGS003860
(PGS_RE)
PSS011083|
South Asian Ancestry|
4,641 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate myopia AUROC: 0.686 [0.664, 0.708]
PPM018737 PGS003860
(PGS_RE)
PSS011079|
East Asian Ancestry|
978 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM6) AUROC: 0.672 [0.619, 0.724]
PPM018739 PGS003860
(PGS_RE)
PSS011081|
European Ancestry|
1,649 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Refractive error : 0.141 [0.112, 0.171]
PPM018729 PGS003860
(PGS_RE)
PSS011079|
East Asian Ancestry|
978 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate myopia AUROC: 0.66 [0.621, 0.699]
PPM018731 PGS003860
(PGS_RE)
PSS011078|
African Ancestry|
4,089 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM5) AUROC: 0.586 [0.542, 0.629]
PPM018740 PGS003860
(PGS_RE)
PSS011082|
European Ancestry|
1,277 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate hyperopia AUROC: 0.765 [0.695, 0.825]
PPM018741 PGS003860
(PGS_RE)
PSS011081|
European Ancestry|
1,649 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate hyperopia AUROC: 0.774 [0.698, 0.845]
PPM018732 PGS003860
(PGS_RE)
PSS011083|
South Asian Ancestry|
4,641 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM5) AUROC: 0.695 [0.664, 0.726]
PPM018735 PGS003860
(PGS_RE)
PSS011078|
African Ancestry|
4,089 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM6) AUROC: 0.584 [0.53, 0.639]
PPM018714 PGS003860
(PGS_RE)
PSS011080|
European Ancestry|
6,000 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Refractive error : 0.19 [0.172, 0.208]
PPM018715 PGS003860
(PGS_RE)
PSS011078|
African Ancestry|
4,089 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Refractive error : 0.02 [0.012, 0.029]
PPM018716 PGS003860
(PGS_RE)
PSS011083|
South Asian Ancestry|
4,641 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Refractive error : 0.08 [0.066, 0.096]
PPM018717 PGS003860
(PGS_RE)
PSS011079|
East Asian Ancestry|
978 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Refractive error : 0.06 [0.034, 0.092]
PPM018718 PGS003860
(PGS_RE)
PSS011080|
European Ancestry|
6,000 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate hyperopia AUROC: 0.742 [0.718, 0.766]
PPM018719 PGS003860
(PGS_RE)
PSS011078|
African Ancestry|
4,089 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate hyperopia AUROC: 0.61 [0.543, 0.677]
PPM018720 PGS003860
(PGS_RE)
PSS011083|
South Asian Ancestry|
4,641 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate hyperopia AUROC: 0.676 [0.631, 0.721]
PPM018721 PGS003860
(PGS_RE)
PSS011079|
East Asian Ancestry|
978 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate hyperopia AUROC: 0.61 [0.415, 0.805]
PPM018733 PGS003860
(PGS_RE)
PSS011079|
East Asian Ancestry|
978 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM5) AUROC: 0.648 [0.601, 0.694]
PPM018734 PGS003860
(PGS_RE)
PSS011080|
European Ancestry|
6,000 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM6) AUROC: 0.783 [0.754, 0.812]
PPM018724 PGS003860
(PGS_RE)
PSS011083|
South Asian Ancestry|
4,641 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Low myopia AUROC: 0.647 [0.631, 0.664]
PPM018730 PGS003860
(PGS_RE)
PSS011080|
European Ancestry|
6,000 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM5) AUROC: 0.774 [0.75, 0.798]
PPM018738 PGS003860
(PGS_RE)
PSS011082|
European Ancestry|
1,277 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Refractive error : 0.116 [0.079, 0.153]
PPM018742 PGS003860
(PGS_RE)
PSS011082|
European Ancestry|
1,277 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Low myopia AUROC: 0.703 [0.654, 0.751]
PPM018743 PGS003860
(PGS_RE)
PSS011081|
European Ancestry|
1,649 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Low myopia AUROC: 0.691 [0.659, 0.722]
PPM018744 PGS003860
(PGS_RE)
PSS011082|
European Ancestry|
1,277 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate myopia AUROC: 0.735 [0.6, 0.854]
PPM018745 PGS003860
(PGS_RE)
PSS011081|
European Ancestry|
1,649 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Moderate myopia AUROC: 0.691 [0.624, 0.754]
PPM018746 PGS003860
(PGS_RE)
PSS011082|
European Ancestry|
1,277 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM5) AUROC: 0.579 [0.567, 0.592]
PPM018747 PGS003860
(PGS_RE)
PSS011081|
European Ancestry|
1,649 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM6) AUROC: 0.739 [0.619, 0.851]
PPM018748 PGS003860
(PGS_RE)
PSS011081|
European Ancestry|
1,649 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: High myopia (HM6) AUROC: 0.783 [0.754, 0.812]
PPM018749 PGS003860
(PGS_RE)
PSS011089|
Ancestry Not Reported|
6,119 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Refractive error : 0.05 [0.04, 0.06]
PPM018750 PGS003860
(PGS_RE)
PSS011088|
Ancestry Not Reported|
4,037 individuals
PGP000498 |
Clark R et al. EBioMedicine (2023)
Reported Trait: Refractive error : 0.12 [0.1, 0.14]

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
PSS011078 4,089 individuals African unspecified UKB
PSS011079 978 individuals East Asian UKB
PSS011080 6,000 individuals European UKB
PSS011081 1,649 individuals,
48.7 % Male samples
Mean = 13.62 years
Sd = 0.36 years
European Generation_R
PSS011082 1,277 individuals,
50.4 % Male samples
Mean = 9.83 years
Sd = 0.35 years
European Generation_R
PSS011083 4,641 individuals South Asian UKB
PSS011088 4,037 individuals,
47.2 % Male samples
Mean = 15.43 years
Sd = 0.28 years
Not reported ALSPAC
PSS011089 6,119 individuals,
50.7 % Male samples
Mean = 7.53 years
Sd = 0.31 years
Not reported ALSPAC