Trait: myocardial infarction

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000612
Description Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. [NCIT: C27996]
Trait category
Cardiovascular disease
Synonyms 28 synonyms
  • Attack - heart
  • Cardiac infarction
  • Cardiac infarction, NOS
  • Heart attack, NOS
  • INFARCTION (MI), MYOCARDIAL
  • Infarct, Myocardial
  • Infarction of heart
  • Infarction of heart, NOS
  • Infarction, Myocardial
  • Infarctions, Myocardial
  • Infarcts, Myocardial
  • MI
  • MI - Myocardial infarction
  • MI, MYOCARDIAL INFARCTION
  • MI, myocardial infarction
  • MYOCARDIAL INFARCTION, (MI)
  • Myocardial Infarct
  • Myocardial Infarctions
  • Myocardial Infarcts
  • Myocardial infarction (disorder)
  • Myocardial infarction NOS
  • Myocardial infarction, NOS
  • heart attack
  • infarction (MI), myocardial
  • myocardial infarct
  • myocardial infarction
  • myocardial infarction (disease)
  • myocardial infarction, (MI)
Mapped terms 13 mapped terms
  • DOID:5844
  • HP:0001658
  • ICD10CM:I21
  • MESH:D009203
  • MONDO:0005068
  • MeSH:D009203
  • MedDRA:10028596
  • NCIT:C27996
  • NCIt:C27996
  • OMIM:608446
  • SCTID:22298006
  • SNOMEDCT:22298006
  • UMLS:C0027051
Child trait(s) Non-ST Elevation Myocardial Infarction

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 "myocardial infarction" 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)
PGS000710
(HC326)
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Myocardial infarction myocardial infarction 183,566
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000710/ScoringFiles/PGS000710.txt.gz - Check Terms/Licenses
PGS001048
(GBE_HC1576)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 NSTEMI (algorithmically-defined) Non-ST Elevation Myocardial Infarction 687
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001048/ScoringFiles/PGS001048.txt.gz
PGS001314
(GBE_HC938)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Acute myocardial infarction (time-to-event) myocardial infarction 1,108
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001314/ScoringFiles/PGS001314.txt.gz
PGS001315
(GBE_HC326)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Myocardial infarction myocardial infarction 1,788
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001315/ScoringFiles/PGS001315.txt.gz
PGS001316
(GBE_HC1574)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Myocardial infarction (algorithmically-defined) myocardial infarction 1,831
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001316/ScoringFiles/PGS001316.txt.gz
PGS001317
(GBE_BIN_FC1006150)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Vascular/heart problems diagnosed by doctor Heart attack myocardial infarction 1,030
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001317/ScoringFiles/PGS001317.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
PPM001602 PGS000710
(HC326)
 PSS000826|
European Ancestry|
87,413 individuals
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Reported Trait: Myocardial infarction — AUROC: 0.59348 — Age, sex, PCs(1-10) —
PPM001606 PGS000710
(HC326)
 PSS000827|
European Ancestry|
135,300 individuals
 PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
 Reported Trait: Myocardial infarction HR: 1.19 [1.17, 1.22] C-index: 0.707 — Age as time scale, sex, batch, PCs(1-10) —
PPM007998 PGS001048
(GBE_HC1576)
 PSS004287|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD NSTEMI — AUROC: 0.65512 [0.5866, 0.72364] R²: 0.02925
Incremental AUROC (full-covars): 0.00342
PGS R2 (no covariates): 0.00035
PGS AUROC (no covariates): 0.50799 [0.43141, 0.58457]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007999 PGS001048
(GBE_HC1576)
 PSS004288|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD NSTEMI — AUROC: 0.79982 [0.67861, 0.92103] R²: 0.1062
Incremental AUROC (full-covars): -0.01024
PGS R2 (no covariates): 0.00383
PGS AUROC (no covariates): 0.43146 [0.20864, 0.65427]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008000 PGS001048
(GBE_HC1576)
 PSS004289|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD NSTEMI — AUROC: 0.7508 [0.72681, 0.77479] R²: 0.07667
Incremental AUROC (full-covars): 0.00242
PGS R2 (no covariates): 0.00192
PGS AUROC (no covariates): 0.53573 [0.50331, 0.56815]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008001 PGS001048
(GBE_HC1576)
 PSS004290|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD NSTEMI — AUROC: 0.73853 [0.70755, 0.76951] R²: 0.08258
Incremental AUROC (full-covars): -0.0018
PGS R2 (no covariates): 0.00033
PGS AUROC (no covariates): 0.5125 [0.47119, 0.55382]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008002 PGS001048
(GBE_HC1576)
 PSS004291|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD NSTEMI — AUROC: 0.72145 [0.70591, 0.73699] R²: 0.06213
Incremental AUROC (full-covars): 0.004
PGS R2 (no covariates): 0.00234
PGS AUROC (no covariates): 0.54042 [0.52208, 0.55876]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009063 PGS001314
(GBE_HC938)
 PSS004721|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute myocardial infarction — AUROC: 0.70154 [0.65456, 0.74852] R²: 0.05819
Incremental AUROC (full-covars): 0.00259
PGS R2 (no covariates): 0.00375
PGS AUROC (no covariates): 0.54944 [0.49708, 0.6018]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009064 PGS001314
(GBE_HC938)
 PSS004722|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute myocardial infarction — AUROC: 0.75783 [0.66508, 0.85058] R²: 0.11318
Incremental AUROC (full-covars): -0.01214
PGS R2 (no covariates): 4e-05
PGS AUROC (no covariates): 0.50047 [0.38016, 0.62077]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009065 PGS001314
(GBE_HC938)
 PSS004723|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute myocardial infarction — AUROC: 0.77705 [0.76156, 0.79255] R²: 0.12586
Incremental AUROC (full-covars): 0.00931
PGS R2 (no covariates): 0.01217
PGS AUROC (no covariates): 0.59003 [0.56941, 0.61066]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009066 PGS001314
(GBE_HC938)
 PSS004724|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute myocardial infarction — AUROC: 0.77134 [0.75168, 0.791] R²: 0.14992
Incremental AUROC (full-covars): 0.00612
PGS R2 (no covariates): 0.00867
PGS AUROC (no covariates): 0.56612 [0.54027, 0.59198]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009067 PGS001314
(GBE_HC938)
 PSS004725|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute myocardial infarction — AUROC: 0.76117 [0.75218, 0.77016] R²: 0.11781
Incremental AUROC (full-covars): 0.00966
PGS R2 (no covariates): 0.01066
PGS AUROC (no covariates): 0.57977 [0.56827, 0.59127]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009068 PGS001315
(GBE_HC326)
 PSS004447|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Heart attack (MI) — AUROC: 0.69844 [0.6569, 0.73997] R²: 0.06159
Incremental AUROC (full-covars): -0.00208
PGS R2 (no covariates): 0.00235
PGS AUROC (no covariates): 0.54374 [0.49552, 0.59197]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009069 PGS001315
(GBE_HC326)
 PSS004448|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Heart attack (MI) — AUROC: 0.77737 [0.69516, 0.85958] R²: 0.12911
Incremental AUROC (full-covars): -0.00257
PGS R2 (no covariates): 0.00655
PGS AUROC (no covariates): 0.55983 [0.43749, 0.68218]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009070 PGS001315
(GBE_HC326)
 PSS004449|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Heart attack (MI) — AUROC: 0.77933 [0.76476, 0.79391] R²: 0.13255
Incremental AUROC (full-covars): 0.00791
PGS R2 (no covariates): 0.0101
PGS AUROC (no covariates): 0.58124 [0.56203, 0.60045]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009071 PGS001315
(GBE_HC326)
 PSS004450|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Heart attack (MI) — AUROC: 0.76924 [0.75056, 0.78793] R²: 0.15526
Incremental AUROC (full-covars): 0.00484
PGS R2 (no covariates): 0.00641
PGS AUROC (no covariates): 0.55598 [0.53163, 0.58034]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009072 PGS001315
(GBE_HC326)
 PSS004451|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Heart attack (MI) — AUROC: 0.75834 [0.74967, 0.76701] R²: 0.11912
Incremental AUROC (full-covars): 0.01051
PGS R2 (no covariates): 0.0122
PGS AUROC (no covariates): 0.58432 [0.57339, 0.59525]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009073 PGS001316
(GBE_HC1574)
 PSS004282|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD myocardial infarction — AUROC: 0.70025 [0.65881, 0.74169] R²: 0.06323
Incremental AUROC (full-covars): -0.00109
PGS R2 (no covariates): 0.00341
PGS AUROC (no covariates): 0.55032 [0.50157, 0.59907]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009074 PGS001316
(GBE_HC1574)
 PSS004283|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD myocardial infarction — AUROC: 0.77563 [0.69186, 0.85939] R²: 0.13082
Incremental AUROC (full-covars): -0.00431
PGS R2 (no covariates): 0.00883
PGS AUROC (no covariates): 0.56569 [0.44162, 0.68977]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009075 PGS001316
(GBE_HC1574)
 PSS004284|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD myocardial infarction — AUROC: 0.77999 [0.76527, 0.7947] R²: 0.13319
Incremental AUROC (full-covars): 0.0073
PGS R2 (no covariates): 0.00977
PGS AUROC (no covariates): 0.57998 [0.56066, 0.59929]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009076 PGS001316
(GBE_HC1574)
 PSS004285|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD myocardial infarction — AUROC: 0.76882 [0.75001, 0.78764] R²: 0.15463
Incremental AUROC (full-covars): 0.0037
PGS R2 (no covariates): 0.00504
PGS AUROC (no covariates): 0.54779 [0.52311, 0.57248]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009077 PGS001316
(GBE_HC1574)
 PSS004286|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: AD myocardial infarction — AUROC: 0.75963 [0.75098, 0.76829] R²: 0.12014
Incremental AUROC (full-covars): 0.01074
PGS R2 (no covariates): 0.01247
PGS AUROC (no covariates): 0.58557 [0.57459, 0.59655]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009078 PGS001317
(GBE_BIN_FC1006150)
 PSS003775|
African Ancestry|
3,906 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Vascular/heart problems diagnosed by doctor Heart attack — AUROC: 0.72462 [0.66421, 0.78503] R²: 0.08703
Incremental AUROC (full-covars): -0.01046
PGS R2 (no covariates): 0.0002
PGS AUROC (no covariates): 0.50663 [0.44094, 0.57232]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009079 PGS001317
(GBE_BIN_FC1006150)
 PSS003776|
East Asian Ancestry|
1,308 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Vascular/heart problems diagnosed by doctor Heart attack — AUROC: 0.78888 [0.66178, 0.91598] R²: 0.10419
Incremental AUROC (full-covars): -0.00694
PGS R2 (no covariates): 0.00068
PGS AUROC (no covariates): 0.53242 [0.37336, 0.69148]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009080 PGS001317
(GBE_BIN_FC1006150)
 PSS003777|
European Ancestry|
18,556 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Vascular/heart problems diagnosed by doctor Heart attack — AUROC: 0.82479 [0.80685, 0.84274] R²: 0.1758
Incremental AUROC (full-covars): 0.00552
PGS R2 (no covariates): 0.00895
PGS AUROC (no covariates): 0.5766 [0.55039, 0.60282]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009081 PGS001317
(GBE_BIN_FC1006150)
 PSS003778|
South Asian Ancestry|
5,342 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Vascular/heart problems diagnosed by doctor Heart attack — AUROC: 0.82696 [0.80387, 0.85004] R²: 0.22573
Incremental AUROC (full-covars): 0.00709
PGS R2 (no covariates): 0.00972
PGS AUROC (no covariates): 0.57536 [0.54237, 0.60835]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009082 PGS001317
(GBE_BIN_FC1006150)
 PSS003779|
European Ancestry|
48,989 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Vascular/heart problems diagnosed by doctor Heart attack — AUROC: 0.82191 [0.8123, 0.83152] R²: 0.18282
Incremental AUROC (full-covars): 0.01045
PGS R2 (no covariates): 0.01654
PGS AUROC (no covariates): 0.60058 [0.58663, 0.61453]		 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
PSS004284 — —
[
  • 872 cases
  • , 24,033 controls
]
 — European non-white British ancestry UKB —
PSS004285 — —
[
  • 567 cases
  • , 7,264 controls
]
 — South Asian — UKB —
PSS004286 — —
[
  • 2,790 cases
  • , 64,635 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004287 — —
[
  • 51 cases
  • , 6,446 controls
]
 — African unspecified — UKB —
PSS004288 — —
[
  • 8 cases
  • , 1,696 controls
]
 — East Asian — UKB —
PSS004289 — —
[
  • 309 cases
  • , 24,596 controls
]
 — European non-white British ancestry UKB —
PSS004290 — —
[
  • 195 cases
  • , 7,636 controls
]
 — South Asian — UKB —
PSS004291 — —
[
  • 932 cases
  • , 66,493 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS003775 — —
[
  • 82 cases
  • , 3,824 controls
]
 — African unspecified — UKB —
PSS003776 — —
[
  • 11 cases
  • , 1,297 controls
]
 — East Asian — UKB —
PSS003777 — —
[
  • 465 cases
  • , 18,091 controls
]
 — European non-white British ancestry UKB —
PSS003778 — —
[
  • 299 cases
  • , 5,043 controls
]
 — South Asian — UKB —
PSS003779 — —
[
  • 1,611 cases
  • , 47,378 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS000826 — — 87,413 individuals — European — UKB —
PSS000827 ICD-10 I21|I22 —
[
  • 7,913 cases
  • , 127,387 controls
]
 — European
(Finnish)		 — FinnGen —
PSS004447 — —
[
  • 149 cases
  • , 6,348 controls
]
 — African unspecified — UKB —
PSS004448 — —
[
  • 25 cases
  • , 1,679 controls
]
 — East Asian — UKB —
PSS004449 — —
[
  • 881 cases
  • , 24,024 controls
]
 — European non-white British ancestry UKB —
PSS004450 — —
[
  • 568 cases
  • , 7,263 controls
]
 — South Asian — UKB —
PSS004451 — —
[
  • 2,812 cases
  • , 64,613 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004721 — —
[
  • 116 cases
  • , 6,381 controls
]
 — African unspecified — UKB —
PSS004722 — —
[
  • 21 cases
  • , 1,683 controls
]
 — East Asian — UKB —
PSS004723 — —
[
  • 766 cases
  • , 24,139 controls
]
 — European non-white British ancestry UKB —
PSS004724 — —
[
  • 492 cases
  • , 7,339 controls
]
 — South Asian — UKB —
PSS004725 — —
[
  • 2,531 cases
  • , 64,894 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004282 — —
[
  • 150 cases
  • , 6,347 controls
]
 — African unspecified — UKB —
PSS004283 — —
[
  • 25 cases
  • , 1,679 controls
]
 — East Asian — UKB —