Trait: retinal detachment

Experimental Factor Ontology (EFO) Information
Identifier EFO_0005773
Description An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 3 synonyms
  • detached retina
  • retina, detached
  • retinal detachment
Mapped terms 20 mapped terms
  • DOID:5327
  • ICD10:H33
  • ICD9:361.89
  • ICD9:361.9
  • ICD9:362.40
  • ICD9CM:361.9
  • MEDGEN:19759
  • MESH:D012163
  • MONDO:0008375
  • MeSH:D012163
  • MedDRA:10038848
  • NCIT:C26874
  • NCIt:C26874
  • OMIM:180050
  • OMIM:312530
  • SCTID:42059000
  • SNOMEDCT:155103005
  • SNOMEDCT:193347002
  • SNOMEDCT:42059000
  • UMLS:C0035305

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
PGS001137
(GBE_HC302)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Retinal detachment retinal detachment 321
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001137/ScoringFiles/PGS001137.txt.gz
PGS001833
(portability-PLR_361)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Retinal detachments and defects retinal detachment 3,737
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001833/ScoringFiles/PGS001833.txt.gz
PGS002040
(portability-ldpred2_361)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Retinal detachments and defects retinal detachment 706,872
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002040/ScoringFiles/PGS002040.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
PPM008412 PGS001137
(GBE_HC302)
 PSS004418|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.65217 [0.57926, 0.72508] R²: 0.03407
Incremental AUROC (full-covars): -0.00918
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.49921 [0.41839, 0.58004]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008413 PGS001137
(GBE_HC302)
 PSS004419|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.7872 [0.68424, 0.89016] R²: 0.13209
Incremental AUROC (full-covars): 0.01471
PGS R2 (no covariates): 0.00931
PGS AUROC (no covariates): 0.57064 [0.39309, 0.74819]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008414 PGS001137
(GBE_HC302)
 PSS004420|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.65311 [0.62153, 0.68468] R²: 0.02791
Incremental AUROC (full-covars): 0.01854
PGS R2 (no covariates): 0.00663
PGS AUROC (no covariates): 0.57317 [0.53771, 0.60862]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008415 PGS001137
(GBE_HC302)
 PSS004421|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.73537 [0.67789, 0.79285] R²: 0.0635
Incremental AUROC (full-covars): 0.01358
PGS R2 (no covariates): 0.00738
PGS AUROC (no covariates): 0.55915 [0.48569, 0.63261]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008416 PGS001137
(GBE_HC302)
 PSS004422|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.63847 [0.61945, 0.65749] R²: 0.02286
Incremental AUROC (full-covars): 0.00912
PGS R2 (no covariates): 0.00357
PGS AUROC (no covariates): 0.55079 [0.52979, 0.57179]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009556 PGS001833
(portability-PLR_361)
 PSS009303|
European Ancestry|
19,445 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0218 [0.0078, 0.0359] sex, age, birth date, deprivation index, 16 PCs —
PPM009557 PGS001833
(portability-PLR_361)
 PSS009077|
European Ancestry|
4,055 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0304 sex, age, birth date, deprivation index, 16 PCs —
PPM009558 PGS001833
(portability-PLR_361)
 PSS008631|
European Ancestry|
6,514 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0086 [-0.0157, 0.0329] sex, age, birth date, deprivation index, 16 PCs —
PPM009559 PGS001833
(portability-PLR_361)
 PSS008405|
Greater Middle Eastern Ancestry|
1,169 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): -0.0283 [-0.086, 0.0296] sex, age, birth date, deprivation index, 16 PCs —
PPM009560 PGS001833
(portability-PLR_361)
 PSS008185|
South Asian Ancestry|
6,095 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0155 [-0.0096, 0.0406] sex, age, birth date, deprivation index, 16 PCs —
PPM009561 PGS001833
(portability-PLR_361)
 PSS007969|
East Asian Ancestry|
1,773 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0326 [-0.0142, 0.0793] sex, age, birth date, deprivation index, 16 PCs —
PPM009562 PGS001833
(portability-PLR_361)
 PSS007751|
African Ancestry|
2,384 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0172 [-0.0231, 0.0575] sex, age, birth date, deprivation index, 16 PCs —
PPM009563 PGS001833
(portability-PLR_361)
 PSS008855|
African Ancestry|
3,743 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.012 [-0.0201, 0.0441] sex, age, birth date, deprivation index, 16 PCs —
PPM011186 PGS002040
(portability-ldpred2_361)
 PSS009303|
European Ancestry|
19,445 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0276 [0.0135, 0.0416] sex, age, birth date, deprivation index, 16 PCs —
PPM011187 PGS002040
(portability-ldpred2_361)
 PSS009077|
European Ancestry|
4,055 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0184 [-0.0125, 0.0492] sex, age, birth date, deprivation index, 16 PCs —
PPM011188 PGS002040
(portability-ldpred2_361)
 PSS008631|
European Ancestry|
6,514 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0125 [-0.0119, 0.0368] sex, age, birth date, deprivation index, 16 PCs —
PPM011189 PGS002040
(portability-ldpred2_361)
 PSS008405|
Greater Middle Eastern Ancestry|
1,169 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): -0.0028 [-0.0607, 0.055] sex, age, birth date, deprivation index, 16 PCs —
PPM011190 PGS002040
(portability-ldpred2_361)
 PSS008185|
South Asian Ancestry|
6,095 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0276 [0.0024, 0.0527] sex, age, birth date, deprivation index, 16 PCs —
PPM011191 PGS002040
(portability-ldpred2_361)
 PSS007969|
East Asian Ancestry|
1,773 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0368 [-0.0101, 0.0835] sex, age, birth date, deprivation index, 16 PCs —
PPM011192 PGS002040
(portability-ldpred2_361)
 PSS007751|
African Ancestry|
2,384 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0222 [-0.0181, 0.0625] sex, age, birth date, deprivation index, 16 PCs —
PPM011193 PGS002040
(portability-ldpred2_361)
 PSS008855|
African Ancestry|
3,743 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0024 [-0.0297, 0.0345] sex, age, birth date, deprivation index, 16 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
PSS007751 — — 2,384 individuals — African American or Afro-Caribbean Carribean UKB —
PSS004418 — —
[
  • 47 cases
  • , 6,450 controls
]
 — African unspecified — UKB —
PSS004419 — —
[
  • 11 cases
  • , 1,693 controls
]
 — East Asian — UKB —
PSS004420 — —
[
  • 245 cases
  • , 24,660 controls
]
 — European non-white British ancestry UKB —
PSS004421 — —
[
  • 64 cases
  • , 7,767 controls
]
 — South Asian — UKB —
PSS004422 — —
[
  • 772 cases
  • , 66,653 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
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)
PSS009303 — — 19,445 individuals — European UK (+ Ireland) UKB —
PSS009077 — — 4,055 individuals — European Poland (NE Europe) UKB —
PSS008631 — — 6,514 individuals — European Italy (South Europe) UKB —
PSS008405 — — 1,169 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008185 — — 6,095 individuals — South Asian India (South Asia) UKB —
PSS008855 — — 3,743 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007969 — — 1,773 individuals — East Asian China (East Asia) UKB —