Trait: intraocular pressure measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004695
Description Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma.
Trait category
Other measurement

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000124
(IOP_AS)
 PGP000061 |
MacGregor S et al. Nat Genet (2018)
 Intraocular pressure intraocular pressure measurement 103
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000124/ScoringFiles/PGS000124.txt.gz
PGS000879
(PRS146_IOP)
 PGP000225 |
Qassim A et al. Ophthalmology (2020)
 Intraocular pressure intraocular pressure measurement 146
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000879/ScoringFiles/PGS000879.txt.gz
PGS001185
(GBE_INI5255)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Intra-ocular pressure, Goldmann-correlated (R) intraocular pressure measurement 3,584
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001185/ScoringFiles/PGS001185.txt.gz
PGS001409
(GBE_INI5262)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Intra-ocular pressure, corneal-compensated (L) intraocular pressure measurement 1,166
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001409/ScoringFiles/PGS001409.txt.gz
PGS001410
(GBE_INI5254)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Intra-ocular pressure, corneal-compensated (R) intraocular pressure measurement 1,563
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001410/ScoringFiles/PGS001410.txt.gz
PGS001411
(GBE_INI5263)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Intra-ocular pressure, Goldmann-correlated (L) intraocular pressure measurement 3,513
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001411/ScoringFiles/PGS001411.txt.gz
PGS003413
(rvPRS_IOP)
 PGP000426 |
Gao XR et al. Nat Commun (2022)
 Intraocular pressure intraocular pressure measurement 25
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003413/ScoringFiles/PGS003413.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
PPM000403 PGS000124
(IOP_AS)
 PSS000231|
European Ancestry|
4,672 individuals
 PGP000061 |
MacGregor S et al. Nat Genet (2018)
 Reported Trait: Advanced glaucoma — AUROC: 0.65 [0.63, 0.66] — sex, first 4 genetic PCs —
PPM002518 PGS000879
(PRS146_IOP)
 PSS001138|
European Ancestry|
2,154 individuals
 PGP000225 |
Qassim A et al. Ophthalmology (2020)
 Reported Trait: Incisional surgery for the management of glaucoma — — Odds Ratio (OR, top 20% vs bottom 20%): 1.5 [1.1, 2.0] — —
PPM002519 PGS000879
(PRS146_IOP)
 PSS001138|
European Ancestry|
2,154 individuals
 PGP000225 |
Qassim A et al. Ophthalmology (2020)
 Reported Trait: Incisional surgery for the management of glaucoma — — Odds Ratio (OR, top 20% vs intermediate 60%): 1.3 [1.0, 1.6] — —
PPM002520 PGS000879
(PRS146_IOP)
 PSS001137|
European Ancestry|
2,154 individuals
 PGP000225 |
Qassim A et al. Ophthalmology (2020)
 Reported Trait: Bilateral incisional surgery for the management of glaucoma — — Odds Ratio (OR, top 20% vs remaining 80%): 1.4 [1.0, 1.8] — —
PPM002517 PGS000879
(PRS146_IOP)
 PSS001136|
European Ancestry|
2,154 individuals
 PGP000225 |
Qassim A et al. Ophthalmology (2020)
 Reported Trait: High-tension glaucoma — — Odds Ratio (OR, top 20% vs bottom 20%): 1.9 [1.3, 2.8] — —
PPM008604 PGS001185
(GBE_INI5255)
 PSS007441|
African Ancestry|
3,254 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (R) — — R²: 0.04204 [0.0325, 0.05159]
Incremental R2 (full-covars): 0.0098
PGS R2 (no covariates): 0.01237 [0.00703, 0.01771]		 age, sex, UKB array type, Genotype PCs —
PPM008605 PGS001185
(GBE_INI5255)
 PSS007442|
East Asian Ancestry|
590 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (R) — — R²: 0.02998 [0.01406, 0.04589]
Incremental R2 (full-covars): 0.00098
PGS R2 (no covariates): 0.00467 [-0.00178, 0.01112]		 age, sex, UKB array type, Genotype PCs —
PPM008606 PGS001185
(GBE_INI5255)
 PSS007443|
European Ancestry|
7,821 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (R) — — R²: 0.04477 [0.03975, 0.04979]
Incremental R2 (full-covars): 0.03528
PGS R2 (no covariates): 0.0349 [0.03042, 0.03937]		 age, sex, UKB array type, Genotype PCs —
PPM008607 PGS001185
(GBE_INI5255)
 PSS007444|
South Asian Ancestry|
3,610 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (R) — — R²: 0.03832 [0.02998, 0.04666]
Incremental R2 (full-covars): 0.02757
PGS R2 (no covariates): 0.02719 [0.02009, 0.03429]		 age, sex, UKB array type, Genotype PCs —
PPM008608 PGS001185
(GBE_INI5255)
 PSS007445|
European Ancestry|
16,290 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (R) — — R²: 0.05173 [0.04848, 0.05499]
Incremental R2 (full-covars): 0.04479
PGS R2 (no covariates): 0.04483 [0.04178, 0.04788]		 age, sex, UKB array type, Genotype PCs —
PPM007200 PGS001409
(GBE_INI5262)
 PSS007456|
African Ancestry|
3,212 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (L) — — R²: 0.03733 [0.02829, 0.04637]
Incremental R2 (full-covars): -0.00441
PGS R2 (no covariates): 0.00031 [-0.00055, 0.00117]		 age, sex, UKB array type, Genotype PCs —
PPM007201 PGS001409
(GBE_INI5262)
 PSS007457|
East Asian Ancestry|
583 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (L) — — R²: 0.02837 [0.01286, 0.04387]
Incremental R2 (full-covars): -0.00286
PGS R2 (no covariates): 0.00142 [-0.00215, 0.00498]		 age, sex, UKB array type, Genotype PCs —
PPM007202 PGS001409
(GBE_INI5262)
 PSS007458|
European Ancestry|
7,806 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (L) — — R²: 0.0336 [0.0292, 0.038]
Incremental R2 (full-covars): 0.00913
PGS R2 (no covariates): 0.00923 [0.00687, 0.01159]		 age, sex, UKB array type, Genotype PCs —
PPM007203 PGS001409
(GBE_INI5262)
 PSS007459|
South Asian Ancestry|
3,565 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (L) — — R²: 0.03369 [0.02583, 0.04154]
Incremental R2 (full-covars): 0.01088
PGS R2 (no covariates): 0.01113 [0.00651, 0.01575]		 age, sex, UKB array type, Genotype PCs —
PPM007204 PGS001409
(GBE_INI5262)
 PSS007460|
European Ancestry|
16,274 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (L) — — R²: 0.03668 [0.03389, 0.03946]
Incremental R2 (full-covars): 0.01496
PGS R2 (no covariates): 0.01568 [0.01382, 0.01754]		 age, sex, UKB array type, Genotype PCs —
PPM007185 PGS001410
(GBE_INI5254)
 PSS007436|
African Ancestry|
3,254 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (R) — — R²: 0.03133 [0.023, 0.03967]
Incremental R2 (full-covars): 0.00371
PGS R2 (no covariates): 0.00454 [0.00128, 0.0078]		 age, sex, UKB array type, Genotype PCs —
PPM007186 PGS001410
(GBE_INI5254)
 PSS007437|
East Asian Ancestry|
590 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (R) — — R²: 0.03676 [0.01926, 0.05426]
Incremental R2 (full-covars): 0.00553
PGS R2 (no covariates): 0.00565 [-0.00143, 0.01274]		 age, sex, UKB array type, Genotype PCs —
PPM007187 PGS001410
(GBE_INI5254)
 PSS007438|
European Ancestry|
7,821 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (R) — — R²: 0.02457 [0.02077, 0.02837]
Incremental R2 (full-covars): 0.00774
PGS R2 (no covariates): 0.0075 [0.00536, 0.00963]		 age, sex, UKB array type, Genotype PCs —
PPM007188 PGS001410
(GBE_INI5254)
 PSS007439|
South Asian Ancestry|
3,610 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (R) — — R²: 0.02885 [0.02155, 0.03616]
Incremental R2 (full-covars): 0.01476
PGS R2 (no covariates): 0.01471 [0.00942, 0.02]		 age, sex, UKB array type, Genotype PCs —
PPM007189 PGS001410
(GBE_INI5254)
 PSS007440|
European Ancestry|
16,290 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, corneal-compensated (R) — — R²: 0.037 [0.0342, 0.03979]
Incremental R2 (full-covars): 0.01657
PGS R2 (no covariates): 0.01663 [0.01471, 0.01854]		 age, sex, UKB array type, Genotype PCs —
PPM007205 PGS001411
(GBE_INI5263)
 PSS007461|
African Ancestry|
3,212 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (L) — — R²: 0.04068 [0.03128, 0.05009]
Incremental R2 (full-covars): -0.00391
PGS R2 (no covariates): 0.00271 [0.00019, 0.00523]		 age, sex, UKB array type, Genotype PCs —
PPM007206 PGS001411
(GBE_INI5263)
 PSS007462|
East Asian Ancestry|
583 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (L) — — R²: 0.04813 [0.02834, 0.06791]
Incremental R2 (full-covars): 0.01832
PGS R2 (no covariates): 0.01761 [0.00526, 0.02997]		 age, sex, UKB array type, Genotype PCs —
PPM007207 PGS001411
(GBE_INI5263)
 PSS007463|
European Ancestry|
7,806 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (L) — — R²: 0.04491 [0.03988, 0.04994]
Incremental R2 (full-covars): 0.03198
PGS R2 (no covariates): 0.0316 [0.02733, 0.03588]		 age, sex, UKB array type, Genotype PCs —
PPM007208 PGS001411
(GBE_INI5263)
 PSS007464|
South Asian Ancestry|
3,565 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (L) — — R²: 0.04426 [0.03536, 0.05317]
Incremental R2 (full-covars): 0.03415
PGS R2 (no covariates): 0.03409 [0.02619, 0.04198]		 age, sex, UKB array type, Genotype PCs —
PPM007209 PGS001411
(GBE_INI5263)
 PSS007465|
European Ancestry|
16,274 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Intra-ocular pressure, Goldmann-correlated (L) — — R²: 0.05219 [0.04892, 0.05546]
Incremental R2 (full-covars): 0.04335
PGS R2 (no covariates): 0.04403 [0.041, 0.04705]		 age, sex, UKB array type, Genotype PCs —
PPM017063 PGS003413
(rvPRS_IOP)
 PSS010108|
European Ancestry|
312,825 individuals
 PGP000426 |
Gao XR et al. Nat Commun (2022)
 Reported Trait: Glaucoma OR: 1.12 — ΔAUROC (%): 0.5 age, sex —

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
PSS001136 Cases included individuals with high-tension adavanced glaucoma. Advanced glaucoma was defined by a Humphrey 24-2 visual field mean deviation of less than e15 dB in the worse eye, or loss of at least 2 of the central visual field points on the pattern deviation map. High-tension glaucoma is defined by a maximum IOP of more than 21 mmHg. —
[
  • 1,416 cases
  • , 738 controls
]
,
46.37 % Male samples
 Mean = 77.4 years
Sd = 13.2 years		 European — ANZRAG —
PSS001137 Cases included individuals with adavanced glaucoma who have required bilateral incisional surgeries to manage their glaucoma. Advanced glaucoma was defined by a Humphrey 24-2 visual field mean deviation of less than e15 dB in the worse eye, or loss of at least 2 of the central visual field points on the pattern deviation map. Incisional surgeries were mostly trabeculectomies. Other incisional surgeries included tube shunt surgery, deep sclerectomy and Xen Gel implants. —
[
  • 424 cases
  • , 1,730 controls
]
 — European — ANZRAG —
PSS001138 Cases included individuals with adavanced glaucoma who have required incisional surgeries to manage their glaucoma. Advanced glaucoma was defined by a Humphrey 24-2 visual field mean deviation of less than e15 dB in the worse eye, or loss of at least 2 of the central visual field points on the pattern deviation map. Incisional surgeries were mostly trabeculectomies. Other incisional surgeries included tube shunt surgery, deep sclerectomy and Xen Gel implants. —
[
  • 844 cases
  • , 1,310 controls
]
 — European — ANZRAG —
PSS010108 — — 312,825 individuals — European — UKB —
PSS000231 Advanced primary open-angle glaucoma —
[
  • 1,734 cases
  • , 2,938 controls
]
 — European — ANZRAG Samples come from Phase 1 and Phase 2 of ANZRAG.
PSS007436 — — 3,254 individuals — African unspecified — UKB —
PSS007437 — — 590 individuals — East Asian — UKB —
PSS007438 — — 7,821 individuals — European non-white British ancestry UKB —
PSS007439 — — 3,610 individuals — South Asian — UKB —
PSS007440 — — 16,290 individuals — European white British ancestry UKB Testing cohort (heldout set)
PSS007441 — — 3,254 individuals — African unspecified — UKB —
PSS007442 — — 590 individuals — East Asian — UKB —
PSS007443 — — 7,821 individuals — European non-white British ancestry UKB —
PSS007444 — — 3,610 individuals — South Asian — UKB —
PSS007445 — — 16,290 individuals — European white British ancestry UKB Testing cohort (heldout set)
PSS007456 — — 3,212 individuals — African unspecified — UKB —
PSS007457 — — 583 individuals — East Asian — UKB —
PSS007458 — — 7,806 individuals — European non-white British ancestry UKB —
PSS007459 — — 3,565 individuals — South Asian — UKB —
PSS007460 — — 16,274 individuals — European white British ancestry UKB Testing cohort (heldout set)
PSS007461 — — 3,212 individuals — African unspecified — UKB —
PSS007462 — — 583 individuals — East Asian — UKB —
PSS007463 — — 7,806 individuals — European non-white British ancestry UKB —
PSS007464 — — 3,565 individuals — South Asian — UKB —
PSS007465 — — 16,274 individuals — European white British ancestry UKB Testing cohort (heldout set)