Trait: retinopathy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003839
Description Any disease or disorder of the retina. [NCIT: C62601]
Trait category
Neurological disorder
Synonyms 5 synonyms
  • eye disease of retina
  • retina eye disease
  • retinal disease
  • retinal disorder
  • retinopathy
Mapped terms 16 mapped terms
  • DOID:5679
  • HGNC:8002
  • ICD10:H35
  • ICD9:362.89
  • ICD9:362.9
  • MEDGEN:11209
  • MESH:D012164
  • MONDO:0005283
  • MedDRA:10038923
  • NCIT:C26875
  • NCIT:C62601
  • NCIt:C62601
  • OMIM:162080
  • SCTID:29555009
  • SNOMEDCT:399625000
  • UMLS:C0035309
Child trait(s) 5 child traits

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
Note: This table shows all PGS for "retinopathy" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS000819
(PRS_DR)
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Diabetic retinopathy diabetic retinopathy 3,537,914
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000819/ScoringFiles/PGS000819.txt.gz
PGS000862
(DR)
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Diabetic Retinopathy diabetic retinopathy 30
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000862/ScoringFiles/PGS000862.txt.gz
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
PGS001013
(GBE_BIN_FC5006148)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Macular degeneration macular degeneration 53
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001013/ScoringFiles/PGS001013.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
PGS001275
(GBE_HC880)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Other retinal disorders (time-to-event) retinopathy 6
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001275/ScoringFiles/PGS001275.txt.gz
PGS001276
(GBE_HC881)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Retinal disorders in diseases classified elsewhere (time-to-event) retinopathy 185
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001276/ScoringFiles/PGS001276.txt.gz
PGS001819
(portability-PLR_250.7)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Diabetic retinopathy diabetic retinopathy 249
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001819/ScoringFiles/PGS001819.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
PGS001834
(portability-PLR_362.29)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Macular degeneration (senile) of retina NOS age-related macular degeneration 157
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001834/ScoringFiles/PGS001834.txt.gz
PGS002027
(portability-ldpred2_250.7)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Diabetic retinopathy diabetic retinopathy 389,029
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002027/ScoringFiles/PGS002027.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
PGS002041
(portability-ldpred2_362.29)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Macular degeneration (senile) of retina NOS age-related macular degeneration 116,538
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002041/ScoringFiles/PGS002041.txt.gz
PGS002269
(PRS47_AMD)
 PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
 Age-related macular degeneration age-related macular degeneration 47
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002269/ScoringFiles/PGS002269.txt.gz
PGS004606
(AMD-IAMDGC-EUR)
 PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		 Age-related macular degeneration age-related macular degeneration 1,000,946
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004606/ScoringFiles/PGS004606.txt.gz
PGS004607
(AMD-MVP-AFR)
 PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		 Age-related macular degeneration age-related macular degeneration 1,067,520
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004607/ScoringFiles/PGS004607.txt.gz
PGS004952
(PRS52_AMD)
 PGP000673 |
Herold JM et al. Invest Ophthalmol Vis Sci (2023)
 Age-related macular degeneration age-related macular degeneration 52
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004952/ScoringFiles/PGS004952.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
PPM002190 PGS000819
(PRS_DR)
 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Retinal hemorrhage in inidividuals with type 2 diabetes OR: 1.44 [1.03, 2.02] — — — —
PPM002185 PGS000819
(PRS_DR)
 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.12 [1.04, 1.2] — — — —
PPM002186 PGS000819
(PRS_DR)
 PSS001066|
European Ancestry|
978 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.22 [1.02, 1.41] — — — —
PPM002187 PGS000819
(PRS_DR)
 PSS001065|
African Ancestry|
1,925 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.15 [1.03, 1.28] — — — —
PPM002188 PGS000819
(PRS_DR)
 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes — — Odds Ratio (OR, top 10% vs bottom 10%): 1.8 [1.28, 2.55] Age, sex, body mass index, PCs(1-20), history of hypertension, glucose levels —
PPM002189 PGS000819
(PRS_DR)
 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.14 [1.05, 1.23] — — PCs(1-20), type 2 diabetes duration, type 2 diabetes medication, hyperglycemia, elevated HbA1c, hypertension, hypercholesterolemia, hyperlipidemia, insomina, sleep apnea, age, sex, body mass index —
PPM002191 PGS000819
(PRS_DR)
 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diplopia in individuals with type 2 diabetes OR: 1.31 [1.02, 1.7] — — — —
PPM002192 PGS000819
(PRS_DR)
 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Time to diabetic retinopathy diagnosis in individuals with type 2 diabetes HR: 1.13 [1.05, 1.21] — — Age, sex, body mass index, PCs(1-20), history of hypertension, glucose levels —
PPM002393 PGS000862
(DR)
 PSS001086|
European Ancestry|
3,194 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Autoimmune Diabetes OR: 0.98 [0.89, 1.08] — — PC1-10 —
PPM002395 PGS000862
(DR)
 PSS001088|
European Ancestry|
3,869 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Resistant Diabetes OR: 1.09 [1.02, 1.17] — — PC1-10 —
PPM002397 PGS000862
(DR)
 PSS001084|
European Ancestry|
5,597 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Age-Related Diabetes OR: 1.01 [0.96, 1.07] — — PC1-10 —
PPM002394 PGS000862
(DR)
 PSS001087|
European Ancestry|
3,930 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Deficient Diabetes OR: 1.03 [0.96, 1.1] — — PC1-10 —
PPM002396 PGS000862
(DR)
 PSS001085|
European Ancestry|
4,116 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Obesity-related Diabetes OR: 1.09 [1.02, 1.17] — — PC1-10 —
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
PPM007828 PGS001013
(GBE_BIN_FC5006148)
 PSS003974|
African Ancestry|
3,196 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.7052 [0.63504, 0.77537] R²: 0.07369
Incremental AUROC (full-covars): -0.00271
PGS R2 (no covariates): 6e-05
PGS AUROC (no covariates): 0.50582 [0.43466, 0.57699]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007829 PGS001013
(GBE_BIN_FC5006148)
 PSS003975|
East Asian Ancestry|
711 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.90123 [0.8354, 0.96707] R²: 0.32752
Incremental AUROC (full-covars): -0.00016
PGS R2 (no covariates): 0.01068
PGS AUROC (no covariates): 0.59339 [0.45683, 0.72996]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007830 PGS001013
(GBE_BIN_FC5006148)
 PSS003976|
European Ancestry|
9,755 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.72878 [0.69745, 0.76011] R²: 0.07729
Incremental AUROC (full-covars): 0.00516
PGS R2 (no covariates): 0.00265
PGS AUROC (no covariates): 0.53845 [0.49847, 0.57843]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007831 PGS001013
(GBE_BIN_FC5006148)
 PSS003977|
South Asian Ancestry|
3,327 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.76624 [0.71098, 0.8215] R²: 0.10324
Incremental AUROC (full-covars): -0.00396
PGS R2 (no covariates): 0.00053
PGS AUROC (no covariates): 0.47169 [0.39626, 0.54712]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007832 PGS001013
(GBE_BIN_FC5006148)
 PSS003978|
European Ancestry|
22,208 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Macular degeneration — AUROC: 0.70257 [0.6826, 0.72253] R²: 0.06704
Incremental AUROC (full-covars): 0.00573
PGS R2 (no covariates): 0.00599
PGS AUROC (no covariates): 0.55283 [0.52939, 0.57627]		 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
PPM008873 PGS001275
(GBE_HC880)
 PSS004687|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other retinal disorders — AUROC: 0.70701 [0.6592, 0.75482] R²: 0.06654
Incremental AUROC (full-covars): -0.00077
PGS R2 (no covariates): 0.00011
PGS AUROC (no covariates): 0.50886 [0.45807, 0.55965]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008874 PGS001275
(GBE_HC880)
 PSS004688|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other retinal disorders — AUROC: 0.76408 [0.70187, 0.8263] R²: 0.11034
Incremental AUROC (full-covars): 0.00238
PGS R2 (no covariates): 0.00124
PGS AUROC (no covariates): 0.54196 [0.45417, 0.62976]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008875 PGS001275
(GBE_HC880)
 PSS004689|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other retinal disorders — AUROC: 0.68838 [0.66508, 0.71167] R²: 0.04946
Incremental AUROC (full-covars): 0.00295
PGS R2 (no covariates): 0.00217
PGS AUROC (no covariates): 0.53609 [0.50994, 0.56223]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008876 PGS001275
(GBE_HC880)
 PSS004690|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other retinal disorders — AUROC: 0.73994 [0.71282, 0.76707] R²: 0.09449
Incremental AUROC (full-covars): 0.00101
PGS R2 (no covariates): 0.00053
PGS AUROC (no covariates): 0.51345 [0.47882, 0.54808]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008877 PGS001275
(GBE_HC880)
 PSS004691|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other retinal disorders — AUROC: 0.67575 [0.6628, 0.6887] R²: 0.04416
Incremental AUROC (full-covars): 0.00229
PGS R2 (no covariates): 0.00203
PGS AUROC (no covariates): 0.53038 [0.51532, 0.54545]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008878 PGS001276
(GBE_HC881)
 PSS004692|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal disorders in diseases classified elsewhere — AUROC: 0.69535 [0.65164, 0.73906] R²: 0.04898
Incremental AUROC (full-covars): -0.01537
PGS R2 (no covariates): 0.00048
PGS AUROC (no covariates): 0.47863 [0.42888, 0.52839]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008879 PGS001276
(GBE_HC881)
 PSS004693|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal disorders in diseases classified elsewhere — AUROC: 0.78112 [0.63575, 0.92649] R²: 0.09795
Incremental AUROC (full-covars): -0.03107
PGS R2 (no covariates): 0.00124
PGS AUROC (no covariates): 0.45159 [0.20305, 0.70013]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008880 PGS001276
(GBE_HC881)
 PSS004694|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal disorders in diseases classified elsewhere — AUROC: 0.70588 [0.66187, 0.7499] R²: 0.04864
Incremental AUROC (full-covars): 0.02939
PGS R2 (no covariates): 0.01461
PGS AUROC (no covariates): 0.60872 [0.55828, 0.65917]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008881 PGS001276
(GBE_HC881)
 PSS004695|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal disorders in diseases classified elsewhere — AUROC: 0.73414 [0.70226, 0.76602] R²: 0.08369
Incremental AUROC (full-covars): -7e-05
PGS R2 (no covariates): 0.00183
PGS AUROC (no covariates): 0.53682 [0.49711, 0.57653]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008882 PGS001276
(GBE_HC881)
 PSS004696|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE retinal disorders in diseases classified elsewhere — AUROC: 0.67399 [0.64743, 0.70056] R²: 0.03213
Incremental AUROC (full-covars): 0.02207
PGS R2 (no covariates): 0.00817
PGS AUROC (no covariates): 0.57664 [0.54625, 0.60704]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009452 PGS001819
(portability-PLR_250.7)
 PSS009289|
European Ancestry|
19,330 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0366 [0.0226, 0.0507] sex, age, birth date, deprivation index, 16 PCs —
PPM009453 PGS001819
(portability-PLR_250.7)
 PSS009063|
European Ancestry|
4,032 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0638 [0.033, 0.0946] sex, age, birth date, deprivation index, 16 PCs —
PPM009454 PGS001819
(portability-PLR_250.7)
 PSS008617|
European Ancestry|
6,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0315 [0.0071, 0.0559] sex, age, birth date, deprivation index, 16 PCs —
PPM009455 PGS001819
(portability-PLR_250.7)
 PSS008393|
Greater Middle Eastern Ancestry|
1,162 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0471 [-0.1048, 0.011] sex, age, birth date, deprivation index, 16 PCs —
PPM009456 PGS001819
(portability-PLR_250.7)
 PSS008171|
South Asian Ancestry|
6,081 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0325 [0.0074, 0.0577] sex, age, birth date, deprivation index, 16 PCs —
PPM009457 PGS001819
(portability-PLR_250.7)
 PSS007958|
East Asian Ancestry|
1,764 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0249 [-0.0718, 0.022] sex, age, birth date, deprivation index, 16 PCs —
PPM009459 PGS001819
(portability-PLR_250.7)
 PSS008842|
African Ancestry|
3,732 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0089 [-0.0233, 0.041] sex, age, birth date, deprivation index, 16 PCs —
PPM009458 PGS001819
(portability-PLR_250.7)
 PSS007739|
African Ancestry|
2,385 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0193 [-0.0596, 0.021] sex, age, birth date, deprivation index, 16 PCs —
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 —
PPM009565 PGS001834
(portability-PLR_362.29)
 PSS009078|
European Ancestry|
4,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0258 [-0.0051, 0.0567] sex, age, birth date, deprivation index, 16 PCs —
PPM009566 PGS001834
(portability-PLR_362.29)
 PSS008632|
European Ancestry|
6,470 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0177 [-0.0067, 0.0421] sex, age, birth date, deprivation index, 16 PCs —
PPM009567 PGS001834
(portability-PLR_362.29)
 PSS008406|
Greater Middle Eastern Ancestry|
1,165 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): -0.03 [-0.0877, 0.028] sex, age, birth date, deprivation index, 16 PCs —
PPM009568 PGS001834
(portability-PLR_362.29)
 PSS008186|
South Asian Ancestry|
6,037 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0368 [0.0116, 0.062] sex, age, birth date, deprivation index, 16 PCs —
PPM009569 PGS001834
(portability-PLR_362.29)
 PSS007970|
East Asian Ancestry|
1,775 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): -0.0304 [-0.0771, 0.0164] sex, age, birth date, deprivation index, 16 PCs —
PPM009570 PGS001834
(portability-PLR_362.29)
 PSS007752|
African Ancestry|
2,374 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0015 [-0.0389, 0.0419] sex, age, birth date, deprivation index, 16 PCs —
PPM009571 PGS001834
(portability-PLR_362.29)
 PSS008856|
African Ancestry|
3,723 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0144 [-0.0178, 0.0466] sex, age, birth date, deprivation index, 16 PCs —
PPM009564 PGS001834
(portability-PLR_362.29)
 PSS009304|
European Ancestry|
19,413 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0175 [0.0034, 0.0315] sex, age, birth date, deprivation index, 16 PCs —
PPM011090 PGS002027
(portability-ldpred2_250.7)
 PSS009289|
European Ancestry|
19,330 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0451 [0.031, 0.0592] sex, age, birth date, deprivation index, 16 PCs —
PPM011091 PGS002027
(portability-ldpred2_250.7)
 PSS009063|
European Ancestry|
4,032 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0607 [0.0298, 0.0915] sex, age, birth date, deprivation index, 16 PCs —
PPM011092 PGS002027
(portability-ldpred2_250.7)
 PSS008617|
European Ancestry|
6,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0241 sex, age, birth date, deprivation index, 16 PCs —
PPM011093 PGS002027
(portability-ldpred2_250.7)
 PSS008393|
Greater Middle Eastern Ancestry|
1,162 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0311 [-0.0889, 0.027] sex, age, birth date, deprivation index, 16 PCs —
PPM011094 PGS002027
(portability-ldpred2_250.7)
 PSS008171|
South Asian Ancestry|
6,081 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0351 [0.01, 0.0603] sex, age, birth date, deprivation index, 16 PCs —
PPM011095 PGS002027
(portability-ldpred2_250.7)
 PSS007958|
East Asian Ancestry|
1,764 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0302 [-0.077, 0.0168] sex, age, birth date, deprivation index, 16 PCs —
PPM011096 PGS002027
(portability-ldpred2_250.7)
 PSS007739|
African Ancestry|
2,385 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0204 [-0.0606, 0.0199] sex, age, birth date, deprivation index, 16 PCs —
PPM011097 PGS002027
(portability-ldpred2_250.7)
 PSS008842|
African Ancestry|
3,732 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0062 [-0.0259, 0.0384] 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 —
PPM011195 PGS002041
(portability-ldpred2_362.29)
 PSS009078|
European Ancestry|
4,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0248 [-0.0061, 0.0556] sex, age, birth date, deprivation index, 16 PCs —
PPM011196 PGS002041
(portability-ldpred2_362.29)
 PSS008632|
European Ancestry|
6,470 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0179 [-0.0065, 0.0423] sex, age, birth date, deprivation index, 16 PCs —
PPM011197 PGS002041
(portability-ldpred2_362.29)
 PSS008406|
Greater Middle Eastern Ancestry|
1,165 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): -0.0344 [-0.0921, 0.0236] sex, age, birth date, deprivation index, 16 PCs —
PPM011198 PGS002041
(portability-ldpred2_362.29)
 PSS008186|
South Asian Ancestry|
6,037 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0372 [0.0119, 0.0624] sex, age, birth date, deprivation index, 16 PCs —
PPM011199 PGS002041
(portability-ldpred2_362.29)
 PSS007970|
East Asian Ancestry|
1,775 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): -0.0312 [-0.0779, 0.0156] sex, age, birth date, deprivation index, 16 PCs —
PPM011200 PGS002041
(portability-ldpred2_362.29)
 PSS007752|
African Ancestry|
2,374 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0038 [-0.0366, 0.0442] sex, age, birth date, deprivation index, 16 PCs —
PPM011201 PGS002041
(portability-ldpred2_362.29)
 PSS008856|
African Ancestry|
3,723 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.018 [-0.0143, 0.0501] sex, age, birth date, deprivation index, 16 PCs —
PPM011194 PGS002041
(portability-ldpred2_362.29)
 PSS009304|
European Ancestry|
19,413 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Macular degeneration (senile) of retina NOS — — Partial Correlation (partial-r): 0.0159 [0.0018, 0.0299] sex, age, birth date, deprivation index, 16 PCs —
PPM012920 PGS002269
(PRS47_AMD)
 PSS009618|
Multi-ancestry (including European)|
44,823 individuals
 PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
 Reported Trait: Rentinal layer thickness (photoreceptor inner and outer segments) β: -0.21 [-0.23, -0.19] — — Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry —
PPM012921 PGS002269
(PRS47_AMD)
 PSS009618|
Multi-ancestry (including European)|
44,823 individuals
 PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
 Reported Trait: Rentinal layer thickness (retinal pigment epithelium and Bruch’s membrane complex) β: -0.14 [-0.16, -0.12] — — Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry —
PPM012922 PGS002269
(PRS47_AMD)
 PSS009618|
Multi-ancestry (including European)|
44,823 individuals
 PGP000299 |
Zekavat SM et al. Ophthalmology (2022)
 Reported Trait: Rentinal layer thickness (choroid-sclera interface) β: -0.03 [-0.06, -0.01] — — Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry —
PPM020767 PGS004606
(AMD-IAMDGC-EUR)
 PSS011398|
European Ancestry|
163,011 individuals
 PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		 Reported Trait: Age-related macular degeneration OR: 1.76 [1.73, 1.78] AUROC: 0.71 — age, sex, principal components 1-10 —
PPM020768 PGS004607
(AMD-MVP-AFR)
 PSS011398|
European Ancestry|
163,011 individuals
 PGP000582 |
Gorman BR et al. medRxiv (2022)
|Pre		 Reported Trait: Age-related macular degeneration OR: 1.48 [1.34, 1.63] AUROC: 0.65 — age, sex, principal components 1-10 —
PPM021759 PGS004952
(PRS52_AMD)
 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 PGS004952
(PRS52_AMD)
 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 PGS004952
(PRS52_AMD)
 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 PGS004952
(PRS52_AMD)
 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 PGS004952
(PRS52_AMD)
 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 PGS004952
(PRS52_AMD)
 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
PSS007751 — — 2,384 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008406 — — 1,165 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009289 — — 19,330 individuals — European UK (+ Ireland) 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)
PSS008393 — — 1,162 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS007752 — — 2,374 individuals — African American or Afro-Caribbean Carribean UKB —
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)
PSS004687 — —
[
  • 125 cases
  • , 6,372 controls
]
 — African unspecified — UKB —
PSS004688 — —
[
  • 43 cases
  • , 1,661 controls
]
 — East Asian — UKB —
PSS004689 — —
[
  • 490 cases
  • , 24,415 controls
]
 — European non-white British ancestry UKB —
PSS004690 — —
[
  • 284 cases
  • , 7,547 controls
]
 — South Asian — UKB —
PSS004691 — —
[
  • 1,549 cases
  • , 65,876 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004692 — —
[
  • 129 cases
  • , 6,368 controls
]
 — African unspecified — UKB —
PSS004693 — —
[
  • 9 cases
  • , 1,695 controls
]
 — East Asian — UKB —
PSS004694 — —
[
  • 121 cases
  • , 24,784 controls
]
 — European non-white British ancestry UKB —
PSS004695 — —
[
  • 204 cases
  • , 7,627 controls
]
 — South Asian — UKB —
PSS004696 — —
[
  • 363 cases
  • , 67,062 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009304 — — 19,413 individuals — European UK (+ Ireland) UKB —
PSS009063 — — 4,032 individuals — European Poland (NE Europe) UKB —
PSS009303 — — 19,445 individuals — European UK (+ Ireland) UKB —
PSS008171 — — 6,081 individuals — South Asian India (South Asia) UKB —
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 —
PSS011398 ICD-9-CM codes 362.51 or 362.52; ICD-10-CM codes H35.31 or H35.32 —
[
  • 32,567 cases
  • , 130,444 controls
]
,
97.0 % Male samples
 — European — MVP —
PSS011788 — —
[
  • 122 cases
  • , 1,577 controls
]
 — European — AugUR —
PSS009077 — — 4,055 individuals — European Poland (NE Europe) UKB —
PSS009078 — — 4,043 individuals — European Poland (NE Europe) UKB —
PSS008185 — — 6,095 individuals — South Asian India (South Asia) UKB —
PSS008186 — — 6,037 individuals — South Asian India (South Asia) UKB —
PSS001084 Moderate Age-Related Diabetes (MARD) vs. controls —
[
  • 2,853 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001085 Moderate Obesity-related Diabetes (MOD) vs. controls —
[
  • 1,372 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001086 Severe Autoimmune Diabetes (SAID) vs. controls —
[
  • 450 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001087 Severe Insulin-Deficient Diabetes (SIDD) vs. controls —
[
  • 1,186 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001088 Severe Insulin-Resistant Diabetes (SIRD) vs. controls —
[
  • 1,125 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS008842 — — 3,732 individuals — African unspecified Nigeria (West Africa) UKB —
PSS003974 — —
[
  • 68 cases
  • , 3,128 controls
]
 — African unspecified — UKB —
PSS003975 — —
[
  • 18 cases
  • , 693 controls
]
 — East Asian — UKB —
PSS003976 — —
[
  • 235 cases
  • , 9,520 controls
]
 — European non-white British ancestry UKB —
PSS003977 — —
[
  • 63 cases
  • , 3,264 controls
]
 — South Asian — UKB —
PSS003978 — —
[
  • 637 cases
  • , 21,571 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007958 — — 1,764 individuals — East Asian China (East Asia) UKB —
PSS008855 — — 3,743 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008856 — — 3,723 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007969 — — 1,773 individuals — East Asian China (East Asia) UKB —
PSS007970 — — 1,775 individuals — East Asian China (East Asia) UKB —
PSS008617 — — 6,465 individuals — European Italy (South Europe) UKB —
PSS007739 — — 2,385 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment — 44,253 individuals — European — UKB —
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment — 40 individuals — South Asian — UKB —
PSS009618 AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment — 530 individuals — Not reported — UKB —
PSS001065 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 317 cases
  • , 1,608 controls
]
 — African American or Afro-Caribbean — BioMe —
PSS001066 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 90 cases
  • , 888 controls
]
 — European — BioMe —
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 90 cases
  • , 888 controls
]
 — European — BioMe —
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 317 cases
  • , 1,608 controls
]
 — African American or Afro-Caribbean — BioMe —
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 507 cases
  • , 2,182 controls
]
 — Hispanic or Latin American — BioMe —
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 49 cases
  • , 438 controls
]
 — Asian unspecified, Native American, NR — BioMe —
PSS008631 — — 6,514 individuals — European Italy (South Europe) UKB —
PSS008632 — — 6,470 individuals — European Italy (South Europe) UKB —
PSS008405 — — 1,169 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —