Polygenic Score (PGS) ID: PGS000749

Predicted Trait
Reported Trait Coronary artery disease
Mapped Trait(s) coronary artery disease (EFO_0001645)
Released in PGS Catalog: March 22, 2021
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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 PRS_COMBINED
Development Method
Name Genome-wide significant variants
Parameters p=0.27
Variants
Original Genome Build hg19
Number of Variants 1,056,021
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000152
Citation (link to publication) Gola D et al. Circ Genom Precis Med (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 75.3%
South Asian: 13.6%
East Asian: 6%
Hispanic or Latin American: 2.2%
African: 1.7%
Greater Middle Eastern: 1.2%
187,599 individuals (100%)
Score Development/Training
European: 100%
10,000 individuals (100%)
PGS Evaluation
European: 66.7%
Greater Middle Eastern: 33.3%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
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
  • ,BioMe
  • ,CARDIOGENICS
  • ,CAS
  • ,CCGB
  • ,COROGENE
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,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 41 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,BioMe
  • ,CARDIOGENICS
  • ,CAS
  • ,CCGB
  • ,COROGENE
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,SDS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
 4,095 individuals Hispanic or Latin American 41 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,BioMe
  • ,CARDIOGENICS
  • ,CAS
  • ,CCGB
  • ,COROGENE
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,SDS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
 11,323 individuals East Asian 41 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,BioMe
  • ,CARDIOGENICS
  • ,CAS
  • ,CCGB
  • ,COROGENE
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,SDS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
 25,557 individuals South Asian 41 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,BioMe
  • ,CARDIOGENICS
  • ,CAS
  • ,CCGB
  • ,COROGENE
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,SDS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
GWAS Catalog: GCST003116
Europe PMC: 26343387
 141,217 individuals European 41 cohorts
  • ADVANCE
  • ,AGES
  • ,AIDHS
  • ,ARIC
  • ,BAS
  • ,BioMe
  • ,CARDIOGENICS
  • ,CAS
  • ,CCGB
  • ,COROGENE
  • ,DUKE_2
  • ,EGCUT
  • ,FGENTCARD
  • ,FHS
  • ,FINRISK
  • ,FamHS
  • ,GENRIC
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,HSDS
  • ,HSIEA
  • ,ITH
  • ,LIFE-HEART
  • ,LOLIPOP
  • ,LURIC
  • ,MAYO-VDB
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PROCARDIS
  • ,PROMIS
  • ,PROSPER
  • ,PennCATH
  • ,RS
  • ,SDS
  • ,TwinGene
  • ,ULSAM
  • ,WGHS
  • ,WTCCC
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 365 cases
  • , 9,635 controls
]
 European EB, GerMIFS, LURIC, UKB In UKB, 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). In EB, 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. 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 myocardinal 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. — — — —

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
PPM001843 PSS000930|
European Ancestry|
27,048 individuals
 PGP000152 |
Gola D et al. Circ Genom Precis Med (2020)
 Reported Trait: Coronary artery disease — AUROC: 0.6112 [0.5919, 0.6305] Area under the Precision-Recall curve (AUPRC): 0.048 [0.0473, 0.0487] — —
PPM001844 PSS000931|
European Ancestry|
431,814 individuals
 PGP000152 |
Gola D et al. Circ Genom Precis Med (2020)
 Reported Trait: Coronary artery disease — AUROC: 0.5988 [0.5949, 0.6027] Area under the Precision-Recall curve (AUPRC): 0.0697 [0.0688, 0.0705] — —
PPM015572 PSS009986|
Greater Middle Eastern Ancestry|
7,023 individuals
 PGP000386 |
Saad M et al. Circ Genom Precis Med (2022)
|Ext.		 Reported Trait: Coronary heart disease OR: 1.66 [1.51, 1.82] AUROC: 0.645 [0.627, 0.663] — — —

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
PSS009986 — —
[
  • 1,014 cases
  • , 6,009 controls
]
,
47.0 % Male samples
 — Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)		 — QBB —
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 —