Trait: retinal break

Experimental Factor Ontology (EFO) Information
Identifier EFO_0010698
Description Retinal breaks are full-thickness discontinuities in the retina. They can be classified into tears, such as horseshoe tears and giant retinal tears, or holes, such as operculated holes and atrophic holes.
Trait category
Neurological disorder
Mapped term MedDRA:10066422

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
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)
PGS000990
(GBE_HC878)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Retinal detachments and breaks (time-to-event) retinal detachment,
retinal break		 237
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000990/ScoringFiles/PGS000990.txt.gz

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
PPM007718 PGS000990
(GBE_HC878)
 PSS004682|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal detachments and breaks — AUROC: 0.61927 [0.54935, 0.68918] R²: 0.0247
Incremental AUROC (full-covars): -0.01882
PGS R2 (no covariates): 0.00198
PGS AUROC (no covariates): 0.46633 [0.38893, 0.54373]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007719 PGS000990
(GBE_HC878)
 PSS004683|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal detachments and breaks — AUROC: 0.75788 [0.63933, 0.87643] R²: 0.10693
Incremental AUROC (full-covars): 0.0196
PGS R2 (no covariates): 0.01417
PGS AUROC (no covariates): 0.5954 [0.44975, 0.74105]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007720 PGS000990
(GBE_HC878)
 PSS004684|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal detachments and breaks — AUROC: 0.64308 [0.61279, 0.67337] R²: 0.02565
Incremental AUROC (full-covars): 0.00606
PGS R2 (no covariates): 0.00213
PGS AUROC (no covariates): 0.54152 [0.50847, 0.57457]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007721 PGS000990
(GBE_HC878)
 PSS004685|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal detachments and breaks — AUROC: 0.71433 [0.66221, 0.76646] R²: 0.05371
Incremental AUROC (full-covars): 0.0098
PGS R2 (no covariates): 0.00492
PGS AUROC (no covariates): 0.56225 [0.49739, 0.62711]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007722 PGS000990
(GBE_HC878)
 PSS004686|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal detachments and breaks — AUROC: 0.63532 [0.61784, 0.65279] R²: 0.02226
Incremental AUROC (full-covars): 0.00479
PGS R2 (no covariates): 0.00207
PGS AUROC (no covariates): 0.53945 [0.52027, 0.55863]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS004682 — —
[
  • 57 cases
  • , 6,440 controls
]
 — African unspecified — UKB —
PSS004683 — —
[
  • 12 cases
  • , 1,692 controls
]
 — East Asian — UKB —
PSS004684 — —
[
  • 296 cases
  • , 24,609 controls
]
 — European non-white British ancestry UKB —
PSS004685 — —
[
  • 76 cases
  • , 7,755 controls
]
 — South Asian — UKB —
PSS004686 — —
[
  • 908 cases
  • , 66,517 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)