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 11 mapped terms
  • DOID:1686
  • EFO:0000516
  • HP:0000501
  • ICD10CM:H40-H42
  • ICD9:365
  • ICD9:365.89
  • ICD9:365.9
  • MESH:D005901
  • NCIT:C26782
  • SCTID:23986001
  • UMLS:C0017601
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 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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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

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]
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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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] : 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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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. medRxiv (2021)
|Pre
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

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
PSS009920 2,448 individuals African unspecified MVP
PSS009921 3,382 individuals European MVP
PSS008408 1,181 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009306 19,592 individuals European UK (+ Ireland) 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)
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
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