Trait: ischemic disease

Trait Information
Identifier MONDO_0005053
Description Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation. [NCIT: C34738]
Trait categories
Cardiovascular disease
Other disease
Child trait(s) myocardial ischemia

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 PGS for child terms of "ischemic disease" in the EFO hierarchy.
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)
PGS000962
(GBE_HC942)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Chronic ischaemic heart disease (time-to-event) myocardial ischemia 2,168
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000962/ScoringFiles/PGS000962.txt.gz
PGS019155
(TPMI_411_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ischemic Heart Disease myocardial ischemia 34,377
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019155/ScoringFiles/PGS019155.txt.gz
PGS019156
(TPMI_411_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ischemic Heart Disease myocardial ischemia 939,890
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019156/ScoringFiles/PGS019156.txt.gz
PGS019157
(TPMI_411_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ischemic Heart Disease myocardial ischemia 39,211
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019157/ScoringFiles/PGS019157.txt.gz
PGS019158
(TPMI_411_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ischemic Heart Disease myocardial ischemia 983,824
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019158/ScoringFiles/PGS019158.txt.gz
PGS019159
(TPMI_411_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ischemic Heart Disease myocardial ischemia 931,264
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019159/ScoringFiles/PGS019159.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
PPM007634 PGS000962
(GBE_HC942)
 PSS004726|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE chronic ischaemic heart disease — AUROC: 0.7358 [0.70724, 0.76436] R²: 0.09751
Incremental AUROC (full-covars): 0.00137
PGS R2 (no covariates): 0.00275
PGS AUROC (no covariates): 0.53401 [0.49965, 0.56838]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007635 PGS000962
(GBE_HC942)
 PSS004727|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE chronic ischaemic heart disease — AUROC: 0.76843 [0.69891, 0.83795] R²: 0.12929
Incremental AUROC (full-covars): 0.00772
PGS R2 (no covariates): 0.01452
PGS AUROC (no covariates): 0.60835 [0.52909, 0.68761]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007636 PGS000962
(GBE_HC942)
 PSS004728|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE chronic ischaemic heart disease — AUROC: 0.77959 [0.76878, 0.7904] R²: 0.1649
Incremental AUROC (full-covars): 0.00919
PGS R2 (no covariates): 0.0145
PGS AUROC (no covariates): 0.58654 [0.57236, 0.60073]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007637 PGS000962
(GBE_HC942)
 PSS004729|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE chronic ischaemic heart disease — AUROC: 0.76819 [0.75382, 0.78257] R²: 0.19358
Incremental AUROC (full-covars): 0.00859
PGS R2 (no covariates): 0.01217
PGS AUROC (no covariates): 0.56681 [0.54864, 0.58499]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007638 PGS000962
(GBE_HC942)
 PSS004730|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE chronic ischaemic heart disease — AUROC: 0.76113 [0.75467, 0.7676] R²: 0.14665
Incremental AUROC (full-covars): 0.01428
PGS R2 (no covariates): 0.01869
PGS AUROC (no covariates): 0.59199 [0.58389, 0.60008]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM037337 PGS019155
(TPMI_411_Lassosum2)
 PSS013073|
East Asian Ancestry|
19,485 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ischemic Heart Disease — AUROC: 0.63122 R²: 0.05223 sex, age, array, PCs 1-10 —
PPM037338 PGS019156
(TPMI_411_LDpred2)
 PSS013072|
East Asian Ancestry|
19,485 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ischemic Heart Disease — AUROC: 0.63411 R²: 0.05386 sex, age, array, PCs 1-10 —
PPM037339 PGS019157
(TPMI_411_MegaPRS)
 PSS013074|
East Asian Ancestry|
19,485 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ischemic Heart Disease — AUROC: 0.63233 R²: 0.05304 sex, age, array, PCs 1-10 —
PPM037340 PGS019158
(TPMI_411_PRS-CS)
 PSS013075|
East Asian Ancestry|
19,485 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ischemic Heart Disease — AUROC: 0.63294 R²: 0.0532 sex, age, array, PCs 1-10 —
PPM037341 PGS019159
(TPMI_411_SBayesR)
 PSS013076|
East Asian Ancestry|
19,485 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ischemic Heart Disease — AUROC: 0.63311 R²: 0.05304 sex, age, array, PCs 1-10 —

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
PSS013072 410, 411, 412, 413, 414, 429.7, 996.03, V45.81, V45.82,I20, I21, I22, I23.0, I23.1, I23.2, I23.3, I23.6, I23.7, I23.8, I24.0, I24.1, I24.8, I24.9, I25, I51.0, I51.3, Z95.1, Z95.5, Z98.6 —
[
  • 2,855 cases
  • , 16,630 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013073 410, 411, 412, 413, 414, 429.7, 996.03, V45.81, V45.82,I20, I21, I22, I23.0, I23.1, I23.2, I23.3, I23.6, I23.7, I23.8, I24.0, I24.1, I24.8, I24.9, I25, I51.0, I51.3, Z95.1, Z95.5, Z98.6 —
[
  • 2,855 cases
  • , 16,630 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013074 410, 411, 412, 413, 414, 429.7, 996.03, V45.81, V45.82,I20, I21, I22, I23.0, I23.1, I23.2, I23.3, I23.6, I23.7, I23.8, I24.0, I24.1, I24.8, I24.9, I25, I51.0, I51.3, Z95.1, Z95.5, Z98.6 —
[
  • 2,855 cases
  • , 16,630 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013075 410, 411, 412, 413, 414, 429.7, 996.03, V45.81, V45.82,I20, I21, I22, I23.0, I23.1, I23.2, I23.3, I23.6, I23.7, I23.8, I24.0, I24.1, I24.8, I24.9, I25, I51.0, I51.3, Z95.1, Z95.5, Z98.6 —
[
  • 2,855 cases
  • , 16,630 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013076 410, 411, 412, 413, 414, 429.7, 996.03, V45.81, V45.82,I20, I21, I22, I23.0, I23.1, I23.2, I23.3, I23.6, I23.7, I23.8, I24.0, I24.1, I24.8, I24.9, I25, I51.0, I51.3, Z95.1, Z95.5, Z98.6 —
[
  • 2,855 cases
  • , 16,630 controls
]
,
45.93 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004726 — —
[
  • 283 cases
  • , 6,214 controls
]
 — African unspecified — UKB —
PSS004727 — —
[
  • 48 cases
  • , 1,656 controls
]
 — East Asian — UKB —
PSS004728 — —
[
  • 1,680 cases
  • , 23,225 controls
]
 — European non-white British ancestry UKB —
PSS004729 — —
[
  • 1,095 cases
  • , 6,736 controls
]
 — South Asian — UKB —
PSS004730 — —
[
  • 5,072 cases
  • , 62,353 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)