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. |
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 |
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 | — | — | R²: 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 | — | — | R²: 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 | — | — | R²: 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 | — | — | R²: 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 | — | — | R²: 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 | — | — | R²: 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 | — | — | R²: 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 | — | — | R²: 0.12 [0.1, 0.14] | — | — |
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 | — |