Trait: cataract

Trait Information
Identifier MONDO_0005129
Description Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) [NCIT: C26713]
Trait category
Other disease
Synonyms 3 synonyms
  • cataract
  • cataract (disease)
  • opacity of the lens
Mapped terms 13 mapped terms
  • DOID:83
  • HP:0000518
  • ICD9:366
  • ICD9:366.44
  • ICD9:366.8
  • ICD9:366.9
  • MEDGEN:39462
  • MESH:D002386
  • NCIT:C26713
  • OMIMPS:116200
  • SCTID:193570009
  • UMLS:C0086543
  • icd11.foundation:109841337

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)
PGS001302
(GBE_HC25)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Cataract cataract 1,214
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001302/ScoringFiles/PGS001302.txt.gz
PGS001303
(GBE_HC872)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Other cataract (time-to-event) cataract 480
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001303/ScoringFiles/PGS001303.txt.gz
PGS001837
(portability-PLR_366)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Cataract cataract 11,617
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001837/ScoringFiles/PGS001837.txt.gz
PGS002044
(portability-ldpred2_366)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Cataract cataract 711,169
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002044/ScoringFiles/PGS002044.txt.gz
PGS004454
(disease.H26.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 H26 (Other cataract) cataract 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004454/ScoringFiles/PGS004454.txt.gz
PGS004524
(meta.H26.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 H26 (Other cataract) cataract 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004524/ScoringFiles/PGS004524.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
PPM009005 PGS001302
(GBE_HC25)
 PSS004379|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cataract — AUROC: 0.81842 [0.80148, 0.83536] R²: 0.25176
Incremental AUROC (full-covars): -0.00057
PGS R2 (no covariates): 0.00041
PGS AUROC (no covariates): 0.51203 [0.48858, 0.53548]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009006 PGS001302
(GBE_HC25)
 PSS004380|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cataract — AUROC: 0.81531 [0.78353, 0.84709] R²: 0.22081
Incremental AUROC (full-covars): 0.00025
PGS R2 (no covariates): 0.00037
PGS AUROC (no covariates): 0.48894 [0.43818, 0.53971]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009007 PGS001302
(GBE_HC25)
 PSS004381|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cataract — AUROC: 0.76448 [0.75374, 0.77523] R²: 0.14636
Incremental AUROC (full-covars): 0.00517
PGS R2 (no covariates): 0.00768
PGS AUROC (no covariates): 0.56031 [0.5466, 0.57402]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009008 PGS001302
(GBE_HC25)
 PSS004382|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cataract — AUROC: 0.81674 [0.80411, 0.82937] R²: 0.28207
Incremental AUROC (full-covars): 0.0031
PGS R2 (no covariates): 0.00627
PGS AUROC (no covariates): 0.54731 [0.52945, 0.56518]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009009 PGS001302
(GBE_HC25)
 PSS004383|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cataract — AUROC: 0.73692 [0.73039, 0.74345] R²: 0.12068
Incremental AUROC (full-covars): 0.00566
PGS R2 (no covariates): 0.00657
PGS AUROC (no covariates): 0.55468 [0.5465, 0.56286]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM018448 PGS001302
(GBE_HC25)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Eye colour β: 0.11584 — R²: 0.01115 — —
PPM018449 PGS001302
(GBE_HC25)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Sunscreen in exterior β: -0.03314 — R²: 0.0383 — —
PPM018450 PGS001302
(GBE_HC25)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Phototype score β: 0.70812 — R²: 0.03441 — —
PPM018451 PGS001302
(GBE_HC25)
 PSS010980|
European Ancestry|
4,797 individuals
 PGP000467 |
Farré X et al. Genes (Basel) (2023)
|Ext.		 Reported Trait: Fitzpatrick scale β: 0.04334 — R²: 0.03185 — —
PPM009010 PGS001303
(GBE_HC872)
 PSS004677|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other cataract — AUROC: 0.81396 [0.7961, 0.83182] R²: 0.23163
Incremental AUROC (full-covars): 5e-05
PGS R2 (no covariates): 0.00013
PGS AUROC (no covariates): 0.50326 [0.47798, 0.52854]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009011 PGS001303
(GBE_HC872)
 PSS004678|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other cataract — AUROC: 0.81597 [0.77997, 0.85198] R²: 0.21513
Incremental AUROC (full-covars): 0.00031
PGS R2 (no covariates): 0.00012
PGS AUROC (no covariates): 0.50879 [0.45096, 0.56661]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009012 PGS001303
(GBE_HC872)
 PSS004679|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other cataract — AUROC: 0.75268 [0.74071, 0.76465] R²: 0.12486
Incremental AUROC (full-covars): 0.00345
PGS R2 (no covariates): 0.00455
PGS AUROC (no covariates): 0.5485 [0.53327, 0.56373]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009013 PGS001303
(GBE_HC872)
 PSS004680|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other cataract — AUROC: 0.79821 [0.78425, 0.81216] R²: 0.23261
Incremental AUROC (full-covars): 0.00152
PGS R2 (no covariates): 0.00238
PGS AUROC (no covariates): 0.52897 [0.51011, 0.54783]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009014 PGS001303
(GBE_HC872)
 PSS004681|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other cataract — AUROC: 0.72387 [0.71653, 0.73121] R²: 0.09993
Incremental AUROC (full-covars): 0.00356
PGS R2 (no covariates): 0.0043
PGS AUROC (no covariates): 0.54593 [0.53685, 0.555]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009592 PGS001837
(portability-PLR_366)
 PSS007754|
African Ancestry|
2,484 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): -0.0371 [-0.0765, 0.0023] sex, age, birth date, deprivation index, 16 PCs —
PPM009587 PGS001837
(portability-PLR_366)
 PSS009081|
European Ancestry|
4,136 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0813 [0.0508, 0.1115] sex, age, birth date, deprivation index, 16 PCs —
PPM009588 PGS001837
(portability-PLR_366)
 PSS008635|
European Ancestry|
6,660 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0642 [0.0402, 0.0881] sex, age, birth date, deprivation index, 16 PCs —
PPM009589 PGS001837
(portability-PLR_366)
 PSS008409|
Greater Middle Eastern Ancestry|
1,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0028 [-0.0543, 0.0598] sex, age, birth date, deprivation index, 16 PCs —
PPM009590 PGS001837
(portability-PLR_366)
 PSS008189|
South Asian Ancestry|
6,331 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.078 [0.0534, 0.1025] sex, age, birth date, deprivation index, 16 PCs —
PPM009591 PGS001837
(portability-PLR_366)
 PSS007972|
East Asian Ancestry|
1,810 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0018 [-0.0445, 0.0482] sex, age, birth date, deprivation index, 16 PCs —
PPM009593 PGS001837
(portability-PLR_366)
 PSS008859|
African Ancestry|
3,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0161 [-0.0153, 0.0474] sex, age, birth date, deprivation index, 16 PCs —
PPM009586 PGS001837
(portability-PLR_366)
 PSS009307|
European Ancestry|
20,000 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0436 [0.0297, 0.0574] sex, age, birth date, deprivation index, 16 PCs —
PPM011216 PGS002044
(portability-ldpred2_366)
 PSS009307|
European Ancestry|
20,000 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0497 [0.0359, 0.0635] sex, age, birth date, deprivation index, 16 PCs —
PPM011217 PGS002044
(portability-ldpred2_366)
 PSS009081|
European Ancestry|
4,136 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0835 [0.0531, 0.1137] sex, age, birth date, deprivation index, 16 PCs —
PPM011218 PGS002044
(portability-ldpred2_366)
 PSS008635|
European Ancestry|
6,660 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0633 [0.0393, 0.0873] sex, age, birth date, deprivation index, 16 PCs —
PPM011219 PGS002044
(portability-ldpred2_366)
 PSS008409|
Greater Middle Eastern Ancestry|
1,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.011 [-0.0461, 0.068] sex, age, birth date, deprivation index, 16 PCs —
PPM011220 PGS002044
(portability-ldpred2_366)
 PSS008189|
South Asian Ancestry|
6,331 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.09 [0.0654, 0.1144] sex, age, birth date, deprivation index, 16 PCs —
PPM011222 PGS002044
(portability-ldpred2_366)
 PSS007754|
African Ancestry|
2,484 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): -0.0166 [-0.0561, 0.0229] sex, age, birth date, deprivation index, 16 PCs —
PPM011223 PGS002044
(portability-ldpred2_366)
 PSS008859|
African Ancestry|
3,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): 0.0213 [-0.0101, 0.0526] sex, age, birth date, deprivation index, 16 PCs —
PPM011221 PGS002044
(portability-ldpred2_366)
 PSS007972|
East Asian Ancestry|
1,810 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Cataract — — Partial Correlation (partial-r): -0.0104 [-0.0567, 0.0359] sex, age, birth date, deprivation index, 16 PCs —
PPM020569 PGS004454
(disease.H26.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: H26 (Other cataract) OR: 1.12821 — — — —
PPM020639 PGS004524
(meta.H26.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: H26 (Other cataract) OR: 1.12178 — — — —

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
PSS007754 — — 2,484 individuals — African American or Afro-Caribbean Carribean UKB —
PSS004677 — —
[
  • 561 cases
  • , 5,936 controls
]
 — African unspecified — UKB —
PSS004678 — —
[
  • 115 cases
  • , 1,589 controls
]
 — East Asian — UKB —
PSS004679 — —
[
  • 1,448 cases
  • , 23,457 controls
]
 — European non-white British ancestry UKB —
PSS004680 — —
[
  • 986 cases
  • , 6,845 controls
]
 — South Asian — UKB —
PSS004681 — —
[
  • 4,189 cases
  • , 63,236 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008409 — — 1,200 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009307 — — 20,000 individuals — European UK (+ Ireland) UKB —
PSS009081 — — 4,136 individuals — European Poland (NE Europe) UKB —
PSS008189 — — 6,331 individuals — South Asian India (South Asia) UKB —
PSS008859 — — 3,924 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011364 — — 56,192 individuals — European — UKB —
PSS004379 — —
[
  • 637 cases
  • , 5,860 controls
]
 — African unspecified — UKB —
PSS004380 — —
[
  • 140 cases
  • , 1,564 controls
]
 — East Asian — UKB —
PSS004381 — —
[
  • 1,738 cases
  • , 23,167 controls
]
 — European non-white British ancestry UKB —
PSS004382 — —
[
  • 1,165 cases
  • , 6,666 controls
]
 — South Asian — UKB —
PSS004383 — —
[
  • 5,153 cases
  • , 62,272 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007972 — — 1,810 individuals — East Asian China (East Asia) UKB —
PSS010980 — — 4,797 individuals — European — NR GCAT
PSS008635 — — 6,660 individuals — European Italy (South Europe) UKB —