Polygenic Score (PGS) ID: PGS000018

Predicted Trait
Reported Trait Coronary artery disease
Mapped Trait(s) coronary artery disease (EFO_0001645)
Released in PGS Catalog: Oct. 14, 2019
Download Score FTP directory
Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name metaGRS_CAD
Development Method
Name metaGRS
Parameters metaGRS log(HR) mixing weights: GRS46K=0.1278, FDR202=0.2359 and 1000Genomes=0.2400
Variants
Original Genome Build hg19
Number of Variants 1,745,179
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000007
Citation (link to publication) Inouye M et al. J Am Coll Cardiol (2018)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 50.9%
  • European
  • South Asian
European: 37%
South Asian: 6.7%
East Asian: 3%
Hispanic or Latin American: 1.1%
African: 0.8%
Greater Middle Eastern: 0.6%
382,026 individuals (100%)
Score Development/Training
Multi-ancestry (including European): 100%
  • European
  • Not Reported
3,000 individuals (100%)
PGS Evaluation
European: 66.7%
African: 11.1%
Hispanic or Latin American: 11.1%
Multi-ancestry (including European): 11.1%
  • European
  • Not Reported
  • African
  • Additional Asian Ancestries
18 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST003116
Europe PMC: 26343387
11,323 individuals East Asian 40 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,CAS
  • ,CCGB_2
  • ,COROGENE
  • ,Cardiogenics
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,IPM
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
25,557 individuals South Asian 40 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,CAS
  • ,CCGB_2
  • ,COROGENE
  • ,Cardiogenics
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,IPM
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
2,268 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) 40 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,CAS
  • ,CCGB_2
  • ,COROGENE
  • ,Cardiogenics
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,IPM
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
4,095 individuals Hispanic or Latin American 40 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,CAS
  • ,CCGB_2
  • ,COROGENE
  • ,Cardiogenics
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,IPM
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
141,217 individuals European 40 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,CAS
  • ,CCGB_2
  • ,COROGENE
  • ,Cardiogenics
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,IPM
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
3,139 individuals African American or Afro-Caribbean 40 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,CAS
  • ,CCGB_2
  • ,COROGENE
  • ,Cardiogenics
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,IPM
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
Europe PMC: 23202125
[
  • 63,746 cases
  • , 130,681 controls
]
European, South Asian 34 cohorts
  • ADVANCE
  • ,AMC-PAS
  • ,Angio-Lueb
  • ,COROGENE
  • ,Cardiogenics
  • ,DILGOM
  • ,Duke
  • ,EGCUT
  • ,EMIL
  • ,EPIC
  • ,FGENTCARD
  • ,FINCAVAS
  • ,FRISCII
  • ,GENRIC
  • ,GLACIER
  • ,GoDARTS
  • ,HPS
  • ,HSIEA
  • ,ITH
  • ,KORA F3
  • ,LOLIPOP
  • ,LURIC
  • ,METSIM
  • ,MORGAM
  • ,OHGS
  • ,PIVUS
  • ,PMB
  • ,POPGEN
  • ,PROCARDIS
  • ,PROMIS
  • ,SCARFSHEEP
  • ,STR
  • ,ULSAM
  • ,WTCCC
Score Development/Training
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
CAD was defined as fatal or nonfatal myocardial infarction (MI) cases, percutaneous transluminal coronary angioplasty (PTCA), or coronary artery bypass grafting (CABG). Prevalent versus incident status was relative to the UKB enrollment assessment. In UKB self-reported data, cases were defined as having had a heart attack diagnosed by a doctor (data field #6150); “non-cancer illnesses that self-reported as heart attack” (data field #20002); or self-reported operation including PTCA, CABG, or triple heart bypass (data field #20004). In HES hospital episodes data and death registry data, MI was defined as hospital admission or cause of death due to ICD-9 410 to 412, or ICD-10 I21 to I24 or I25.2; CABG and PTCA were defined as hospital admission OPCS-4 K40 to K46, K49, K50.1,or K75.
[
  • 1,000 cases
  • , 2,000 controls
]
European, NR ~95% European ancestry samples, <5% non-European ancestry UKB

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)
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
PPM000027 PSS000018|
Multi-ancestry (including European)|
482,629 individuals
PGP000007 |
Inouye M et al. J Am Coll Cardiol (2018)
Reported Trait: Incident coronary artery disease HR: 1.706 [1.682, 1.73] AUROC: 0.79
C-index: 0.623 [0.615, 0.631]
AUPRC: 0.161 sex, genetic PCs (1-10), genotyping array age-as-time-scale Cox regression
PPM000597 PSS000336|
Hispanic or Latin American Ancestry|
2,194 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Incident coronary heart disease HR: 1.53 [1.23, 1.9] C-index: 0.683 sex, eMERGE site, first five ancestry-specific principal components Age-as-time-scale Cox regression
PPM000594 PSS000332|
African Ancestry|
7,070 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Incident coronary heart disease HR: 1.27 [1.13, 1.43] C-index: 0.663 sex, eMERGE site, first five ancestry-specific principal components Age-as-time-scale Cox regression
PPM000591 PSS000334|
European Ancestry|
39,758 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Incident coronary heart disease HR: 1.53 [1.46, 1.6] C-index: 0.719 sex, eMERGE site, first five ancestry-specific principal components Age-as-time-scale Cox regression
PPM000616 PSS000334|
European Ancestry|
39,758 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Incident coronary heart disease HR: 1.49 [1.43, 1.56] C-index: 0.75 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM000620 PSS000332|
African Ancestry|
7,070 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Incident coronary heart disease HR: 1.25 [1.12, 1.41] C-index: 0.723 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM000624 PSS000336|
Hispanic or Latin American Ancestry|
2,194 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Incident coronary heart disease HR: 1.5 [1.21, 1.87] C-index: 0.725 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM001666 PSS000868|
European Ancestry|
3,087 individuals
PGP000137 |
Ritchie SC et al. Nat Metab (2021)
|Ext.
Reported Trait: Incident myocardial infarction HR: 2.89 [1.66, 5.04] age, sex, 10 genetic PCs
PPM001845 PSS000929|
European Ancestry|
5,581 individuals
PGP000152 |
Gola D et al. Circ Genom Precis Med (2020)
|Ext.
Reported Trait: Coronary artery disease AUROC: 0.5015 [0.483, 0.514] Area under the Precision-Recall curve (AUPRC): 0.5205 [0.5201, 0.521]
PPM001846 PSS000930|
European Ancestry|
27,048 individuals
PGP000152 |
Gola D et al. Circ Genom Precis Med (2020)
|Ext.
Reported Trait: Coronary artery disease AUROC: 0.6597 [0.6405, 0.6789] Area under the Precision-Recall curve (AUPRC): 0.0673 [0.0668, 0.0679]
PPM000034 PSS000021|
European Ancestry|
1,964 individuals
PGP000008 |
Wünnemann F et al. Circ Genom Precis Med (2019)
|Ext.
Reported Trait: Coronary artery disease (prevalent) OR: 1.74 [1.57, 1.93] AUROC: 0.72 [0.7, 0.75] age, sex, first four genetic PCs
PPM000035 PSS000022|
European Ancestry|
3,309 individuals
PGP000008 |
Wünnemann F et al. Circ Genom Precis Med (2019)
|Ext.
Reported Trait: Coronary artery disease (prevalent) OR: 1.6 [1.43, 1.8] AUROC: 0.89 [0.88, 0.91] age, sex, first four genetic PCs
PPM000036 PSS000019|
European Ancestry|
5,762 individuals
PGP000008 |
Wünnemann F et al. Circ Genom Precis Med (2019)
|Ext.
Reported Trait: Coronary artery disease (prevalent) OR: 1.75 [1.49, 2.05] AUROC: 0.84 [0.81, 0.87] age, sex, first four genetic PCs, cohort recruitment centre
PPM000037 PSS000020|
European Ancestry|
3,195 individuals
PGP000008 |
Wünnemann F et al. Circ Genom Precis Med (2019)
|Ext.
Reported Trait: Reccurent coronary artery disease events OR: 1.17 [1.08, 1.26] age, sex, first four genetic PCs
PPM000518 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Plaque vulnerability score β: 0.07 [0.003, 0.137] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000517 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Microvessels β: 0.037 [-0.006, 0.08] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000516 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Number of smoooth muscle cells β: -0.004 [-0.038, 0.031] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000515 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Number of macrophages β: 0.01 [-0.015, 0.036] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000514 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Moderate/heavy macrophages OR: 1.103 [0.983, 1.237] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000513 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Moderate/heavy smooth muscle cells OR: 1.004 [0.88, 1.145] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000512 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Presence of IPH OR: 1.126 [0.999, 1.27] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000511 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Presence of lipid core >10% OR: 1.171 [1.026, 1.337] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000510 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Moderate/heavy collagen OR: 1.064 [0.919, 1.231] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000509 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Moderate/heavy calficiations OR: 0.94 [0.826, 1.07] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000508 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Plaque vulnerability score OR: 0.198 [0.003, 0.364] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000507 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Microvessels Beta (top 20% vs. rest): 0.072 [-0.037, 0.182] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000506 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Number of smoooth muscle cells Beta (top 20% vs. rest): -0.056 [-0.143, 0.031] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000505 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Number of macrophages Beta (top 20% vs. rest): 0.55 [-0.012, 0.121] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000504 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Moderate/heavy macrophages Odds Ratio (OR; top 20% vs. rest): 1.49 [1.118, 1.986] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000503 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Moderate/heavy smooth muscle cells Odds Ratio (OR; top 20% vs. rest): 0.908 [0.652, 1.265] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000502 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Presence of IPH Odds Ratio (OR; top 20% vs. rest): 1.112 [0.821, 1.506] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000501 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Presence of lipid core >10% Odds Ratio (OR; top 20% vs. rest): 1.591 [1.105, 2.291] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000500 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Moderate/heavy collagen Odds Ratio (OR; top 20% vs. rest): 1.091 [0.755, 1.577] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000499 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Moderate/heavy calficiations Odds Ratio (OR; top 20% vs. rest): 1.001 [0.754, 1.33] Age, sex, surgery year, type of cerebrovascular symptoms, array, 4 genetic PCs
PPM000498 PSS000287|
European Ancestry|
1,319 individuals
PGP000077 |
Timmerman N et al. medRxiv (2019)
|Ext.|Pre
Reported Trait: Secondary cardiovascular events HR: 1.15 [1.02, 1.29] Age, sex, diabetes, BMI, smoking, hypercholesterolemia, array, 4 genetics PCs
PPM000603 PSS000331|
African Ancestry|
7,597 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.4 [1.3, 1.52] AUROC: 0.775 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components
PPM000600 PSS000333|
European Ancestry|
45,645 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.73 [1.68, 1.78] AUROC: 0.772 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components
PPM000606 PSS000335|
Hispanic or Latin American Ancestry|
2,493 individuals
PGP000083 |
Dikilitas O et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.93 [1.67, 2.22] AUROC: 0.794 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components
PPM001847 PSS000931|
European Ancestry|
431,814 individuals
PGP000152 |
Gola D et al. Circ Genom Precis Med (2020)
|Ext.
Reported Trait: Coronary artery disease AUROC: 0.6377 [0.6339, 0.6416] Area under the Precision-Recall curve (AUPRC): 0.0832 [0.083, 0.0835] May be an overlap between score development and testing sample
PPM005152 PSS003597|
Multi-ancestry (including European)|
12,413 individuals
PGP000248 |
Liou L et al. Breast Cancer Res (2021)
|Ext.
Reported Trait: Incident coronary artery disease survival in individuals with breast cancer HR: 1.36 [1.23, 1.5] Age SNPs with imputation quality scores of less than 0.3 and ambiguous strand SNPs (A/T and G/C pairs) were excluded from PGS000018.
PPM005153 PSS003596|
European Ancestry|
8,946 individuals
PGP000248 |
Liou L et al. Breast Cancer Res (2021)
|Ext.
Reported Trait: Incident coronary artery disease in individuals with breast cancer HR: 1.36 [1.23, 1.51] Age at diagnosis, genotype array, PCs(1-8) SNPs with imputation quality scores of less than 0.3 and ambiguous strand SNPs (A/T and G/C pairs) were excluded from PGS000018.
PPM005154 PSS003596|
European Ancestry|
8,946 individuals
PGP000248 |
Liou L et al. Breast Cancer Res (2021)
|Ext.
Reported Trait: Incident coronary artery disease in individuals with breast cancer HR: 1.34 [1.21, 1.49] Age at diagnosis, genotype array, PCs(1-8), body mass index, smoking SNPs with imputation quality scores of less than 0.3 and ambiguous strand SNPs (A/T and G/C pairs) were excluded from PGS000018.
PPM005155 PSS003596|
European Ancestry|
8,946 individuals
PGP000248 |
Liou L et al. Breast Cancer Res (2021)
|Ext.
Reported Trait: Incident coronary artery disease in individuals with breast cancer HR: 1.34 [1.21, 1.48] Age at diagnosis, genotype array, PCs(1-8), body mass index, smoking, sociodemographic variables SNPs with imputation quality scores of less than 0.3 and ambiguous strand SNPs (A/T and G/C pairs) were excluded from PGS000018.
PPM005156 PSS003596|
European Ancestry|
8,946 individuals
PGP000248 |
Liou L et al. Breast Cancer Res (2021)
|Ext.
Reported Trait: Incident coronary artery disease in individuals with breast cancer HR: 1.33 [1.2, 1.48] Age at diagnosis, genotype array, PCs(1-8), body mass index, smoking, sociodemographic variables, medical variables SNPs with imputation quality scores of less than 0.3 and ambiguous strand SNPs (A/T and G/C pairs) were excluded from PGS000018.
PPM005157 PSS003596|
European Ancestry|
8,946 individuals
PGP000248 |
Liou L et al. Breast Cancer Res (2021)
|Ext.
Reported Trait: Incident coronary artery disease in individuals with breast cancer HR: 1.33 [1.2, 1.47] Age at diagnosis, genotype array, PCs(1-8), body mass index, smoking, sociodemographic variables, medical variables, oncotherapies SNPs with imputation quality scores of less than 0.3 and ambiguous strand SNPs (A/T and G/C pairs) were excluded from PGS000018.

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
PSS003596 All individuals had breast cancer. Cases were individuals who suffered incident coronary artery disease (CAD) events. Incident CAD events were defined as a composite endpoint of unstable angina, myocardial infarction, or death due to complications following myocardial infarction according to the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10 codes): I21, I22, I23, I25 and I25.
[
  • 432 cases
  • , 8,514 controls
]
,
0.0 % Male samples
European SEARCH
PSS003597 All individuals had breast cancer. Cases were individuals who suffered incident coronary artery disease (CAD) events. Incident CAD events were defined as a composite endpoint of unstable angina, myocardial infarction, or death due to complications following myocardial infarction according to the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10 codes): I21, I22, I23, I25 and I25. Median = 10.3 years
[
  • 750 cases
  • , 11,663 controls
]
,
0.0 % Male samples
European, African unspecified, Asian unspecified, Not reported European = 11,995, African unspecified = 1, Asian unspecified = 2, Not reported = 413 SEARCH
PSS000018 CAD was defined as fatal or nonfatal myocardial infarction (MI) cases, percutaneous transluminal coronary angioplasty (PTCA), or coronary artery bypass grafting (CABG). Prevalent versus incident status was relative to the UKB enrollment assessment. In UKB self-reported data, cases were defined as having had a heart attack diagnosed by a doctor (data field #6150); “non-cancer illnesses that self-reported as heart attack” (data field #20002); or self-reported operation including PTCA, CABG, or triple heart bypass (data field #20004). In HES hospital episodes data and death registry data, MI was defined as hospital admission or cause of death due to ICD-9 410 to 412, or ICD-10 I21 to I24 or I25.2; CABG and PTCA were defined as hospital admission OPCS-4 K40 to K46, K49, K50.1,or K75.
[
  • 22,242 cases
  • , 460,387 controls
]
,
45.6 % Male samples
European, NR ~95% European ancestry samples, <5% non-European ancestry UKB
PSS000019 Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).
[
  • 173 cases
  • , 5,589 controls
]
,
41.29 % Male samples
European
(French Canadian)
CARTaGENE
PSS000020 Recurrent CAD event during the follow- up period (median follow-up time =3.9 years [range =1.1–7), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).
[
  • 446 cases
  • , 416 controls
]
European
(French Canadian)
MHI Phase 1
PSS000020 Recurrent CAD event during the follow- up period (median follow-up time =3.9 years [range =1.1–7), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).
[
  • 937 cases
  • , 1,396 controls
]
European
(French Canadian)
MHI Phase 2
PSS000021 Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).
[
  • 974 cases
  • , 976 controls
]
,
72.7 % Male samples
European
(French Canadian)
MHI Phase 1
PSS000022 Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting).
[
  • 2,492 cases
  • , 817 controls
]
,
72.38 % Male samples
European
(French Canadian)
MHI Phase 2
PSS000331 CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 Median = 9.2 years
IQR = [5.5, 13.0] years
[
  • 838 cases
  • , 6,759 controls
]
,
31.0 % Male samples
Mean = 43.6 years
Sd = 12.5 years
African American or Afro-Caribbean 7 cohorts
  • BioVu
  • ,Columbia
  • ,KP
  • ,Mount Sinai
  • ,Nugene
  • ,PHB
  • ,eMERGE
right censored at age 75 years or at the age of last observation (whichever was first)
PSS000332 CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. We identified the first CHD event and classified it as ‘‘incident’’ if the event occurred at least 6 months after the participant’s first record in the EHR and if there were no previous ICD-9-CM or ICD-10-CM codes associated with CHD. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 Median = 9.2 years
IQR = [5.5, 13.0] years
[
  • 311 cases
  • , 6,759 controls
]
,
31.0 % Male samples
Mean = 43.6 years
Sd = 12.5 years
African American or Afro-Caribbean 7 cohorts
  • BioVu
  • ,Columbia
  • ,KP
  • ,Mount Sinai
  • ,Nugene
  • ,PHB
  • ,eMERGE
right censored at age 75 years or at the age of last observation (whichever was first)
PSS000333 CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 Median = 11.7 years
IQR = [6.0, 18.5] years
[
  • 8,108 cases
  • , 37,537 controls
]
,
44.6 % Male samples
Mean = 49.0 years
Sd = 14.1 years
European 11 cohorts
  • BioVu
  • ,CCHMC
  • ,Columbia
  • ,KP
  • ,MAYO
  • ,Marshfield
  • ,Mount Sinai
  • ,MyCode
  • ,Nugene
  • ,PHB
  • ,eMERGE
right censored at age 75 years or at the age of last observation (whichever was first)
PSS000334 CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. We identified the first CHD event and classified it as ‘‘incident’’ if the event occurred at least 6 months after the participant’s first record in the EHR and if there were no previous ICD-9-CM or ICD-10-CM codes associated with CHD. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 Median = 11.7 years
IQR = [6.0, 18.5] years
[
  • 2,221 cases
  • , 37,537 controls
]
,
44.6 % Male samples
Mean = 49.0 years
Sd = 14.1 years
European 11 cohorts
  • BioVu
  • ,CCHMC
  • ,Columbia
  • ,KP
  • ,MAYO
  • ,Marshfield
  • ,Mount Sinai
  • ,MyCode
  • ,Nugene
  • ,PHB
  • ,eMERGE
right censored at age 75 years or at the age of last observation (whichever was first)
PSS000335 CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 Median = 10.4 years
IQR = [5.7, 14.7] years
[
  • 419 cases
  • , 2,074 controls
]
,
36.2 % Male samples
Mean = 41.1 years
Sd = 13.2 years
Hispanic or Latin American 8 cohorts
  • BioVu
  • ,Columbia
  • ,KP
  • ,MAYO
  • ,Mount Sinai
  • ,Nugene
  • ,PHB
  • ,eMERGE
right censored at age 75 years or at the age of last observation (whichever was first)
PSS000336 CHD was defined as occurrence of either myocardial infarction (MI) or coronary revascularization events (such as percutaneous coronary intervention or coronary artery bypass grafting) using ICD codes. Individuals with MI were defined as those whose EHR included at least two related diagnostic codes on separate occasions within a 5-day window, and individuals with coronary revascularization were defined as those who had at least one relevant procedural code in the EHR. We identified the first CHD event and classified it as ‘‘incident’’ if the event occurred at least 6 months after the participant’s first record in the EHR and if there were no previous ICD-9-CM or ICD-10-CM codes associated with CHD. ICD codelists and phenotyping algorithm in PMID:27678441 and PMID:25717410 Median = 10.4 years
IQR = [5.7, 14.7] years
[
  • 120 cases
  • , 2,074 controls
]
,
36.2 % Male samples
Mean = 41.1 years
Sd = 13.2 years
Hispanic or Latin American 8 cohorts
  • BioVu
  • ,Columbia
  • ,KP
  • ,MAYO
  • ,Mount Sinai
  • ,Nugene
  • ,PHB
  • ,eMERGE
right censored at age 75 years or at the age of last observation (whichever was first)
PSS000868 CALIBER rule-based phenotyping algorithms (https://www.caliberresearch.org/portal). ICD-10: I21-I23, I24.1, I25.2 Median = 6.9 years
[
  • 15 cases
  • , 3,072 controls
]
,
51.0 % Male samples
Median = 44.0 years
IQR = [30.5, 54.7] years
European INTERVAL
PSS000287 (i) Secondary cardiovascular events (sCVE; incl myocardial infarction, stroke, ruptured abdominal aortic aneurysm, fatal cardiac failure, percuteneous of bypass surgery, leg amputation due to cardiovascular causes, cardiovascular death), (ii) atherosclerotic carotid plaque characteristics Mean = 3.0 years 1,319 individuals,
69.3 % Male samples
Mean = 68.8 years
Sd = 9.3 years
European
(Dutch)
AEGS1
PSS000929 For GERMIFSI and GERMIFSII, CAD was defined as Myocardinal infarction before the age of 60 and 1 or more 1st- degree relative with CAD. In GERMIFSIII CAD was defined as myocardial infarction between the ages of 26 and 74. In GERMIFSIV, cases were based on a CAD diagnosis before age 65 in men or age 70 in women. In Luric, cases were ascertained as >50% angiographic confirmation of vascular obstruction in 1 or more coronary vessel
[
  • 2,919 cases
  • , 2,662 controls
]
European 6 cohorts
  • GERMIFSI
  • ,GERMIFSII
  • ,GERMIFSIII
  • ,GERMIFSIV
  • ,GERMIFSV
  • ,LURIC
PSS000930 CAD ascertainment was based on myocardial infarction diagnosis or death cause using ICD-10 codes I21.X, I22.X, I23.X, I24.1, or I25.2
[
  • 840 cases
  • , 26,208 controls
]
European EB
PSS000931 CAD ascertainment was based on a composite of myocardial infarction or coronary revascularization. Myocardial infarction was based on ICD-9 codes 410.X, 411.X, 412.X, or 429.79, or ICD-10 codes I21.X, I22.X, I23.X, I24.1, or I25.2. Coronary revascularization was assessed based on OPCS-4 coded procedure for coronary artery bypass grafting (K40.1-40-4, K41.1-41.4, or K45.1-45.5), or coronary angioplasty with or without stenting (K49.1-49.2, K49.0-49.9, K50.2, K75.1-75.4, or K75.8-75.9)
[
  • 21,025 cases
  • , 410,789 controls
]
European UKB