Trait: glaucoma

Trait Information
Identifier MONDO_0005041
Description Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. [NCIT: P378]
Trait category
Other disease
Synonyms 2 synonyms
  • glaucoma
  • glaucoma (disease)
Mapped terms 12 mapped terms
  • DOID:1686
  • HP:0000501
  • ICD10CM:H40-H42
  • ICD9:365
  • ICD9:365.89
  • ICD9:365.9
  • MEDGEN:42224
  • MESH:D005901
  • NCIT:C26782
  • SCTID:23986001
  • UMLS:C0017601
  • icd11.foundation:499924848
Child trait(s) open-angle glaucoma

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 "glaucoma" 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)
PGS000137
(MTAG_glaucoma)
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Glaucoma glaucoma 2,673
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000137/ScoringFiles/PGS000137.txt.gz
PGS000350
(GRS12_POAG)
 PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
 Primary open-angle glaucoma open-angle glaucoma 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000350/ScoringFiles/PGS000350.txt.gz
PGS000764
(PRS23_POAG)
 PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
 Primary-open angle glaucoma open-angle glaucoma 23
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000764/ScoringFiles/PGS000764.txt.gz
PGS001321
(GBE_BIN_FC2006148)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Eye problems/disorders (Glaucoma) glaucoma 1,103
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001321/ScoringFiles/PGS001321.txt.gz
PGS001322
(GBE_HC276)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Glaucoma glaucoma 655
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001322/ScoringFiles/PGS001322.txt.gz
PGS001323
(GBE_HC882)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Glaucoma (time-to-event) glaucoma 2,066
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001323/ScoringFiles/PGS001323.txt.gz
PGS001792
(1kgeur_gbmi_leaveUKBBout_POAG_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Primary open-angle glaucoma glaucoma 911,402
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001792/ScoringFiles/PGS001792.txt.gz
PGS001797
(1kgeur_gbmi_POAG_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Primary open-angle glaucoma open-angle glaucoma 885,417
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001797/ScoringFiles/PGS001797.txt.gz
PGS001836
(portability-PLR_365)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Glaucoma glaucoma 7,052
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001836/ScoringFiles/PGS001836.txt.gz
PGS002043
(portability-ldpred2_365)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Glaucoma glaucoma 672,952
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002043/ScoringFiles/PGS002043.txt.gz
PGS002741
(GRS127_POAG_META)
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Primary open-angle glaucoma open-angle glaucoma 127
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002741/ScoringFiles/PGS002741.txt.gz
PGS002761
(Glaucoma_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Glaucoma glaucoma 1,082,518
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002761/ScoringFiles/PGS002761.txt.gz
PGS004765
(glaucoma_PRSmix_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Glaucoma glaucoma 835,476
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004765/ScoringFiles/PGS004765.txt.gz
PGS004766
(glaucoma_PRSmixPlus_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Glaucoma glaucoma 837,948
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004766/ScoringFiles/PGS004766.txt.gz
PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Primary open-angle glaucoma open-angle glaucoma 110,772
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004944/ScoringFiles/PGS004944.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
PPM000422 PGS000137
(MTAG_glaucoma)
 PSS000245|
European Ancestry|
1,795 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Primary open-angle glaucoma (POAG) — AUROC: 0.8 — age, sex, self-reported family history —
PPM000426 PGS000137
(MTAG_glaucoma)
 PSS000249|
South Asian Ancestry|
7,033 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma — AUROC: 0.76 [0.73, 0.79] — age, sex Model 3
PPM000424 PGS000137
(MTAG_glaucoma)
 PSS000248|
European Ancestry|
3,112 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma — AUROC: 0.75 [0.73, 0.76] — age, sex Model 3
PPM000429 PGS000137
(MTAG_glaucoma)
 PSS000247|
European Ancestry|
3,112 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Primary open-angle glaucoma (POAG) — AUROC: 0.76 [0.72, 0.81] — age, sex Model 3
PPM000425 PGS000137
(MTAG_glaucoma)
 PSS000249|
South Asian Ancestry|
7,033 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma — AUROC: 0.64 [0.59, 0.68] — — Model 1
PPM000423 PGS000137
(MTAG_glaucoma)
 PSS000248|
European Ancestry|
3,112 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma — AUROC: 0.66 [0.64, 0.68] — — Model 1
PPM000428 PGS000137
(MTAG_glaucoma)
 PSS000247|
European Ancestry|
3,112 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Primary open-angle glaucoma (POAG) — AUROC: 0.67 [0.63, 0.72] — — Model 1
PPM000427 PGS000137
(MTAG_glaucoma)
 PSS000246|
European Ancestry|
965 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma in MYOC p.Gln368Ter carriers — — HR (Hazard Ratio; highest vs. lowest tertile of PRS): 3.4 [1.7, 6.6] sex, PCs 1-6 —
PPM000421 PGS000137
(MTAG_glaucoma)
 PSS000245|
European Ancestry|
1,795 individuals
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Reported Trait: Primary open-angle glaucoma (POAG) — AUROC: 0.71 [0.66, 0.77] — — —
PPM016165 PGS000137
(MTAG_glaucoma)
 PSS010053|
European Ancestry|
1,103 individuals
 PGP000403 |
Siggs OM et al. JAMA Ophthalmol (2022)
|Ext.		 Reported Trait: Visual field worsening — — Hazard ratio (HR, top 5% vs bottom 95%): 1.5 [1.13, 1.97]
Hazard ratio (HR, bottom 20% vs intermediate risk): 0.52 [0.28, 0.96]		 — —
PPM020780 PGS000137
(MTAG_glaucoma)
 PSS011408|
European Ancestry|
903 individuals
 PGP000588 |
Marshall HN et al. Ophthalmol Glaucoma (2022)
|Ext.		 Reported Trait: Age at first trabeculectomy in individuals with primary open-angle glaucoma β: -1.94 [-3.47, -0.41] — — Sex, family history of glaucoma —
PPM020781 PGS000137
(MTAG_glaucoma)
 PSS011408|
European Ancestry|
903 individuals
 PGP000588 |
Marshall HN et al. Ophthalmol Glaucoma (2022)
|Ext.		 Reported Trait: Requirement for bilateral trabeculectomy in individuals with primary open-angle glaucoma — — Odds ratio (OR, top vs bottom PRS decile): 1.41 [1.06, 1.91] — —
PPM022190 PGS000137
(MTAG_glaucoma)
 PSS011837|
Multi-ancestry (including European)|
455 individuals
 PGP000688 |
Saks DG et al. Acta Ophthalmol (2023)
|Ext.		 Reported Trait: Vascular wedge presence in individuals with glaucoma — — p: 0.007 Age, sex, optic disc haemorrhage —
PPM022191 PGS000137
(MTAG_glaucoma)
 PSS011837|
Multi-ancestry (including European)|
455 individuals
 PGP000688 |
Saks DG et al. Acta Ophthalmol (2023)
|Ext.		 Reported Trait: Retinal nerve fibre layer wedge presence in individuals with glaucoma — — p: 0.07 Age, sex, optic disc haemorrhage —
PPM000998 PGS000350
(GRS12_POAG)
 PSS000513|
European Ancestry|
2,947 individuals
 PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
 Reported Trait: Primary open-angle glaucoma age at diagnosis β: -0.36 [-0.56, -0.16] — — sex, DNA source, population structure —
PPM000997 PGS000350
(GRS12_POAG)
 PSS000512|
European Ancestry|
6,538 individuals
 PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
 Reported Trait: Primary open-angle glaucoma OR: 1.24 [1.21, 1.27] — — sex, DNA source, population structure —
PPM001956 PGS000764
(PRS23_POAG)
 PSS000977|
Multi-ancestry (excluding European)|
3,830 individuals
 PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
 Reported Trait: Primary-open angle glaucoma — — Odds Ratio (OR per 1 point increase): 1.08 [1.06, 1.11] Age, ancestry (q0), gender —
PPM001957 PGS000764
(PRS23_POAG)
 PSS000978|
Multi-ancestry (excluding European)|
2,135 individuals
 PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
 Reported Trait: Primary-open angle glaucoma — — Odds Ratio (OR per 1 point increase): 1.08 [1.05, 1.12] Age, ancestry (q0), gender —
PPM009097 PGS001321
(GBE_BIN_FC2006148)
 PSS003849|
African Ancestry|
3,341 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Glaucoma — AUROC: 0.75589 [0.72234, 0.78943] R²: 0.13943
Incremental AUROC (full-covars): -0.01209
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.49958 [0.46126, 0.5379]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009098 PGS001321
(GBE_BIN_FC2006148)
 PSS003850|
East Asian Ancestry|
715 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Glaucoma — AUROC: 0.71808 [0.61808, 0.81809] R²: 0.09844
Incremental AUROC (full-covars): -0.01728
PGS R2 (no covariates): 0.00057
PGS AUROC (no covariates): 0.5191 [0.40156, 0.63664]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009099 PGS001321
(GBE_BIN_FC2006148)
 PSS003851|
European Ancestry|
9,888 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Glaucoma — AUROC: 0.75377 [0.72896, 0.77858] R²: 0.11288
Incremental AUROC (full-covars): 0.01096
PGS R2 (no covariates): 0.01038
PGS AUROC (no covariates): 0.57925 [0.54955, 0.60894]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009100 PGS001321
(GBE_BIN_FC2006148)
 PSS003852|
South Asian Ancestry|
3,441 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Glaucoma — AUROC: 0.7617 [0.72794, 0.79547] R²: 0.1335
Incremental AUROC (full-covars): 0.00638
PGS R2 (no covariates): 0.01082
PGS AUROC (no covariates): 0.57361 [0.5321, 0.61512]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009101 PGS001321
(GBE_BIN_FC2006148)
 PSS003853|
European Ancestry|
22,623 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Glaucoma — AUROC: 0.72434 [0.70924, 0.73944] R²: 0.09306
Incremental AUROC (full-covars): 0.02225
PGS R2 (no covariates): 0.0194
PGS AUROC (no covariates): 0.60001 [0.58198, 0.61804]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009102 PGS001322
(GBE_HC276)
 PSS004408|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Glaucoma — AUROC: 0.73888 [0.70843, 0.76932] R²: 0.0999
Incremental AUROC (full-covars): -0.00815
PGS R2 (no covariates): 0.00019
PGS AUROC (no covariates): 0.48469 [0.45088, 0.5185]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009103 PGS001322
(GBE_HC276)
 PSS004409|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Glaucoma — AUROC: 0.70681 [0.61243, 0.80118] R²: 0.05552
Incremental AUROC (full-covars): -0.01374
PGS R2 (no covariates): 0.00272
PGS AUROC (no covariates): 0.45399 [0.34399, 0.564]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009104 PGS001322
(GBE_HC276)
 PSS004410|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Glaucoma — AUROC: 0.73317 [0.71252, 0.75382] R²: 0.0763
Incremental AUROC (full-covars): 0.01834
PGS R2 (no covariates): 0.01238
PGS AUROC (no covariates): 0.59932 [0.57386, 0.62477]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009105 PGS001322
(GBE_HC276)
 PSS004411|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Glaucoma — AUROC: 0.74918 [0.71835, 0.78] R²: 0.09545
Incremental AUROC (full-covars): 0.01096
PGS R2 (no covariates): 0.01142
PGS AUROC (no covariates): 0.59951 [0.56169, 0.63734]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009106 PGS001322
(GBE_HC276)
 PSS004412|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Glaucoma — AUROC: 0.7048 [0.69206, 0.71754] R²: 0.0589
Incremental AUROC (full-covars): 0.02562
PGS R2 (no covariates): 0.015
PGS AUROC (no covariates): 0.60261 [0.58762, 0.6176]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009107 PGS001323
(GBE_HC882)
 PSS004697|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE glaucoma — AUROC: 0.72181 [0.69233, 0.75129] R²: 0.0918
Incremental AUROC (full-covars): -0.00164
PGS R2 (no covariates): 0.00184
PGS AUROC (no covariates): 0.53284 [0.50004, 0.56563]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009108 PGS001323
(GBE_HC882)
 PSS004698|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE glaucoma — AUROC: 0.70826 [0.61816, 0.79836] R²: 0.06483
Incremental AUROC (full-covars): 0.01999
PGS R2 (no covariates): 0.00405
PGS AUROC (no covariates): 0.54496 [0.43191, 0.65802]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009109 PGS001323
(GBE_HC882)
 PSS004699|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE glaucoma — AUROC: 0.72679 [0.7079, 0.74569] R²: 0.07732
Incremental AUROC (full-covars): 0.0269
PGS R2 (no covariates): 0.01761
PGS AUROC (no covariates): 0.60838 [0.58579, 0.63096]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009110 PGS001323
(GBE_HC882)
 PSS004700|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE glaucoma — AUROC: 0.73399 [0.70517, 0.76282] R²: 0.08727
Incremental AUROC (full-covars): 0.00993
PGS R2 (no covariates): 0.00928
PGS AUROC (no covariates): 0.57629 [0.54141, 0.61116]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009111 PGS001323
(GBE_HC882)
 PSS004701|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE glaucoma — AUROC: 0.70422 [0.69334, 0.7151] R²: 0.06469
Incremental AUROC (full-covars): 0.0364
PGS R2 (no covariates): 0.02201
PGS AUROC (no covariates): 0.61994 [0.60732, 0.63256]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009305 PGS001792
(1kgeur_gbmi_leaveUKBBout_POAG_pst_eff_a1_b0.5_phiauto)
 PSS007704|
Additional Asian Ancestries|
7,787 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.856 Nagelkerke's R2 (covariates regressed out): 0.02991 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM009296 PGS001792
(1kgeur_gbmi_leaveUKBBout_POAG_pst_eff_a1_b0.5_phiauto)
 PSS007715|
European Ancestry|
347,396 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.777 Nagelkerke's R2 (covariates regressed out): 0.03209 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM009313 PGS001797
(1kgeur_gbmi_POAG_pst_eff_a1_b0.5_phiauto)
 PSS007695|
European Ancestry|
7,128 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.749 Nagelkerke's R2 (covariates regressed out): 0.03148 sex,age, 20PCs —
PPM009578 PGS001836
(portability-PLR_365)
 PSS009306|
European Ancestry|
19,592 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0419 [0.0279, 0.0558] sex, age, birth date, deprivation index, 16 PCs —
PPM009579 PGS001836
(portability-PLR_365)
 PSS009080|
European Ancestry|
4,066 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0404 [0.0096, 0.0711] sex, age, birth date, deprivation index, 16 PCs —
PPM009580 PGS001836
(portability-PLR_365)
 PSS008634|
European Ancestry|
6,540 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0301 [0.0059, 0.0544] sex, age, birth date, deprivation index, 16 PCs —
PPM009581 PGS001836
(portability-PLR_365)
 PSS008408|
Greater Middle Eastern Ancestry|
1,181 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0631 [0.0056, 0.1202] sex, age, birth date, deprivation index, 16 PCs —
PPM009582 PGS001836
(portability-PLR_365)
 PSS008188|
South Asian Ancestry|
6,176 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0232 [-0.0018, 0.0481] sex, age, birth date, deprivation index, 16 PCs —
PPM009583 PGS001836
(portability-PLR_365)
 PSS007971|
East Asian Ancestry|
1,783 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0002 [-0.0465, 0.0469] sex, age, birth date, deprivation index, 16 PCs —
PPM009584 PGS001836
(portability-PLR_365)
 PSS007753|
African Ancestry|
2,447 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0282 [-0.0116, 0.0679] sex, age, birth date, deprivation index, 16 PCs —
PPM009585 PGS001836
(portability-PLR_365)
 PSS008858|
African Ancestry|
3,854 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0257 [-0.0059, 0.0573] sex, age, birth date, deprivation index, 16 PCs —
PPM011208 PGS002043
(portability-ldpred2_365)
 PSS009306|
European Ancestry|
19,592 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0458 [0.0318, 0.0598] sex, age, birth date, deprivation index, 16 PCs —
PPM011209 PGS002043
(portability-ldpred2_365)
 PSS009080|
European Ancestry|
4,066 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0458 [0.015, 0.0765] sex, age, birth date, deprivation index, 16 PCs —
PPM011211 PGS002043
(portability-ldpred2_365)
 PSS008408|
Greater Middle Eastern Ancestry|
1,181 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0637 [0.0062, 0.1208] sex, age, birth date, deprivation index, 16 PCs —
PPM011212 PGS002043
(portability-ldpred2_365)
 PSS008188|
South Asian Ancestry|
6,176 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0216 [-0.0034, 0.0465] sex, age, birth date, deprivation index, 16 PCs —
PPM011213 PGS002043
(portability-ldpred2_365)
 PSS007971|
East Asian Ancestry|
1,783 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0214 [-0.0253, 0.068] sex, age, birth date, deprivation index, 16 PCs —
PPM011214 PGS002043
(portability-ldpred2_365)
 PSS007753|
African Ancestry|
2,447 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0126 [-0.0272, 0.0524] sex, age, birth date, deprivation index, 16 PCs —
PPM011215 PGS002043
(portability-ldpred2_365)
 PSS008858|
African Ancestry|
3,854 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0279 [-0.0037, 0.0595] sex, age, birth date, deprivation index, 16 PCs —
PPM011210 PGS002043
(portability-ldpred2_365)
 PSS008634|
European Ancestry|
6,540 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma — — Partial Correlation (partial-r): 0.0366 [0.0123, 0.0608] sex, age, birth date, deprivation index, 16 PCs —
PPM014899 PGS002741
(GRS127_POAG_META)
 PSS009920|
African Ancestry|
2,448 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.69 [0.67, 0.7] — Age, sex, and 10 sample-specific PCs —
PPM014900 PGS002741
(GRS127_POAG_META)
 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.67 [0.66, 0.68] — Age, sex, and 10 sample-specific PCs —
PPM014901 PGS002741
(GRS127_POAG_META)
 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Invasive glaucoma surgery β: 0.265 (0.068) — — Age, sex, and 10 sample-specific PCs —
PPM014902 PGS002741
(GRS127_POAG_META)
 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Invasive glaucoma surgery (glaucoma drainage implants) β: 0.338 (0.079) — — Age, sex, and 10 sample-specific PCs —
PPM014903 PGS002741
(GRS127_POAG_META)
 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Invasive glaucoma surgery (trabeculectomy or glaucoma drainage implants) β: 0.274 (0.067) — — Age, sex, and 10 sample-specific PCs —
PPM014961 PGS002761
(Glaucoma_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma OR: 1.68 [1.59, 1.78] — — age, sex, 10 PCs, technical covariates —
PPM020990 PGS004765
(glaucoma_PRSmix_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Glaucoma — — Incremental R2 (Full model versus model with only covariates): 0.031 [0.024, 0.038] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM020991 PGS004766
(glaucoma_PRSmixPlus_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Glaucoma — — Incremental R2 (Full model versus model with only covariates): 0.031 [0.024, 0.038] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM021750 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011778|
Multi-ancestry (including European)|
37,818 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Inner nuclear layer thickness β: -0.03 [-0.05, -0.01] — — Age, age2, sex, ancestry —
PPM021751 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011778|
Multi-ancestry (including European)|
37,818 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Photoreceptor segment thickness β: -0.03 [-0.06, 0.0] — — Age, age2, sex, ancestry —
PPM021744 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011776|
Multi-ancestry (including European)|
407,667 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Primary open-angle glaucoma (self-reported) OR: 1.74 [1.71, 1.77] AUROC: 0.748 — Age, age2, sex, ancestry —
PPM021745 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011777|
Multi-ancestry (including European)|
44,411 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Primary open-angle glaucoma OR: 1.46 [1.36, 1.58] AUROC: 0.683 — Age, age2, sex, ancestry —
PPM021746 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011778|
Multi-ancestry (including European)|
37,818 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Retinal nerve fiber layer thickness β: -0.14 [-0.19, -0.1] — — Age, age2, sex, ancestry —
PPM021747 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011778|
Multi-ancestry (including European)|
37,818 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Ganglion cell layer thickness β: -0.05 [-0.08, -0.02] — — Age, age2, sex, ancestry —
PPM021748 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011778|
Multi-ancestry (including European)|
37,818 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Inner plexiform layer thickness β: -0.06 [-0.09, -0.04] — — Age, age2, sex, ancestry —
PPM021749 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011778|
Multi-ancestry (including European)|
37,818 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Ganglion cell complex thickness β: -0.26 [-0.34, -0.17] — — Age, age2, sex, ancestry —

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
PSS004412 — —
[
  • 1,327 cases
  • , 66,098 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007753 — — 2,447 individuals — African American or Afro-Caribbean Carribean UKB —
PSS010053 — — 1,103 individuals — European — PROGRESSA Ancestrally matched normative population cohort (n = 17 642) was used for PRS reference
PSS009920 — — 2,448 individuals — African unspecified — MVP —
PSS009921 — — 3,382 individuals — European — MVP —
PSS011776 — — 7,738 individuals — African unspecified — UKB —
PSS011776 — — 784 individuals — Hispanic or Latin American — UKB —
PSS008408 — — 1,181 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS011776 — — 9,099 individuals — East Asian, South Asian — UKB —
PSS009306 — — 19,592 individuals — European UK (+ Ireland) UKB —
PSS011465 — — 9,462 individuals — European — AllofUs —
PSS011778 — — 37,818 individuals — African unspecified, Hispanic or Latin American, East Asian, South Asian, European — UKB —
PSS011776 — — 390,046 individuals — European — UKB —
PSS011777 — — 44,411 individuals — African unspecified, Hispanic or Latin American, East Asian, South Asian, European — UKB —
PSS004697 — —
[
  • 307 cases
  • , 6,190 controls
]
 — African unspecified — UKB —
PSS004698 — —
[
  • 34 cases
  • , 1,670 controls
]
 — East Asian — UKB —
PSS004699 — —
[
  • 637 cases
  • , 24,268 controls
]
 — European non-white British ancestry UKB —
PSS000512 A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) reproducible glaucomatous visual field loss on reliable tests; or (3) an eye with cup-disc ratio of at least 0.7 with 1 visual field showing glaucomatous loss; and (4) no identifiable secondary cause for optic nerve disease.  —
[
  • 3,108 cases
  • , 3,430 controls
]
,
43.38 % Male samples
 — European — GLAUGEN, NEIGHBOR —
PSS000513 A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) reproducible glaucomatous visual field loss on reliable tests; or (3) an eye with cup-disc ratio of at least 0.7 with 1 visual field showing glaucomatous loss; and (4) no identifiable secondary cause for optic nerve disease.  —
[
  • 2,947 cases
  • , 0 controls
]
 — European — GLAUGEN, NEIGHBOR —
PSS004700 — —
[
  • 261 cases
  • , 7,570 controls
]
 — South Asian — UKB —
PSS004701 — —
[
  • 1,890 cases
  • , 65,535 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS011837 — — 429 individuals — European — PROGRESSA —
PSS011837 — — 5 individuals — Asian unspecified — PROGRESSA —
PSS011837 — — 1 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) — PROGRESSA —
PSS011837 — — 1 individuals — Hispanic or Latin American — PROGRESSA —
PSS011837 — — 19 individuals — Not reported — PROGRESSA —
PSS009080 — — 4,066 individuals — European Poland (NE Europe) UKB —
PSS008188 — — 6,176 individuals — South Asian India (South Asia) UKB —
PSS007695 — —
[
  • 224 cases
  • , 6,903 controls
]
 — European — CanPath —
PSS011408 — — 903 individuals,
42.7 % Male samples
 — European — ANZRAG —
PSS007704 — —
[
  • 49 cases
  • , 7,737 controls
]
 — Asian unspecified Central and South Asian UKB —
PSS003849 — —
[
  • 217 cases
  • , 3,124 controls
]
 — African unspecified — UKB —
PSS003850 — —
[
  • 23 cases
  • , 692 controls
]
 — East Asian — UKB —
PSS003851 — —
[
  • 373 cases
  • , 9,515 controls
]
 — European non-white British ancestry UKB —
PSS000977 Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocorneal angle and characteristic optic nerve defects with corresponding visual field loss, whereas controls, classified by fellowship-trained glaucoma specialists exhibited a lack of confounding ocular conditions. —
[
  • 1,783 cases
  • , 2,047 controls
]
,
36.4 % Male samples
 — African American or Afro-Caribbean, African unspecified — POAAGG —
PSS000978 Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocorneal angle and characteristic optic nerve defects with corresponding visual field loss, whereas controls, classified by fellowship-trained glaucoma specialists exhibited a lack of confounding ocular conditions. —
[
  • 755 cases
  • , 1,380 controls
]
 — African American or Afro-Caribbean, African unspecified — POAAGG —
PSS003852 — —
[
  • 178 cases
  • , 3,263 controls
]
 — South Asian — UKB —
PSS003853 — —
[
  • 1,054 cases
  • , 21,569 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007715 — —
[
  • 1,266 cases
  • , 346,129 controls
]
 — European — UKB —
PSS008858 — — 3,854 individuals — African unspecified Nigeria (West Africa) UKB —
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —
PSS007971 — — 1,783 individuals — East Asian China (East Asia) UKB —
PSS000245 — —
[
  • 74 cases
  • , 1,721 controls
]
,
43.0 % Male samples
 Mean = 64.02 years
Sd = 8.24 years		 European — BMES —
PSS000246 MYOC p.Gln368Ter (rs74315329) carriers using imputation. Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness). —
[
  • 72 cases
  • , 893 controls
]
 — European — UKB —
PSS000247 ICD-10 defined Primary open-angle glaucoma (POAG) —
[
  • 112 cases
  • , 3,000 controls
]
 — European — UKB —
PSS000248 Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness). —
[
  • 112 cases
  • , 3,000 controls
]
 — European — UKB —
PSS000249 Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness). —
[
  • 192 cases
  • , 6,841 controls
]
 — South Asian — UKB —
PSS008634 — — 6,540 individuals — European Italy (South Europe) UKB —
PSS004408 — —
[
  • 265 cases
  • , 6,232 controls
]
 — African unspecified — UKB —
PSS004409 — —
[
  • 28 cases
  • , 1,676 controls
]
 — East Asian — UKB —
PSS004410 — —
[
  • 477 cases
  • , 24,428 controls
]
 — European non-white British ancestry UKB —
PSS004411 — —
[
  • 218 cases
  • , 7,613 controls
]
 — South Asian — UKB —