Trait: iritis

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000997
Description Inflammation of the iris. [NCIT: P378]
Trait category
Other disease
Synonyms 5 synonyms
  • Iritis
  • inflammation of iris
  • iris inflammation
  • iritis
  • iritis (disease)
Mapped terms 12 mapped terms
  • DOID:1406
  • HP:0001101
  • MEDGEN:7160
  • MESH:D007500
  • MONDO:0006814
  • MeSH:D007500
  • MedDRA:10022955
  • NCIT:C50621
  • NCIt:C50621
  • SCTID:65074000
  • SNOMEDCT:65074000
  • UMLS:C0022081

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)
PGS000966
(GBE_HC26)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Iritis iritis 1
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000966/ScoringFiles/PGS000966.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
PPM007654 PGS000966
(GBE_HC26)
 PSS004399|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Iritis — AUROC: 0.92131 [0.81365, 1.0] R²: 0.11296
Incremental AUROC (full-covars): 0.00359
PGS R2 (no covariates): 0.14006
PGS AUROC (no covariates): 0.66325 [0.33513, 0.99137]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007655 PGS000966
(GBE_HC26)
 PSS004400|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Iritis — AUROC: 0.79843 [0.66002, 0.93684] R²: 0.10294
Incremental AUROC (full-covars): 0.06447
PGS R2 (no covariates): 0.09763
PGS AUROC (no covariates): 0.75287 [0.61793, 0.88781]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007656 PGS000966
(GBE_HC26)
 PSS004401|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Iritis — AUROC: 0.961 [0.92628, 0.99572] R²: 0.2291
Incremental AUROC (full-covars): -0.00048
PGS R2 (no covariates): 0.00222
PGS AUROC (no covariates): 0.49061 [0.48911, 0.49211]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007657 PGS000966
(GBE_HC26)
 PSS004402|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Iritis — AUROC: 0.77646 [0.69039, 0.86254] R²: 0.08068
Incremental AUROC (full-covars): 0.22055
PGS R2 (no covariates): 0.10834
PGS AUROC (no covariates): 0.78582 [0.71071, 0.86092]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS004399 — —
[
  • 3 cases
  • , 6,494 controls
]
 — African unspecified — UKB —
PSS004400 — —
[
  • 14 cases
  • , 24,891 controls
]
 — European non-white British ancestry UKB —
PSS004401 — —
[
  • 4 cases
  • , 7,827 controls
]
 — South Asian — UKB —
PSS004402 — —
[
  • 40 cases
  • , 67,385 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)