Polygenic Score (PGS) ID: PGS000349

Predicted Trait
Reported Trait Coronary artery disease
Mapped Trait(s) coronary artery disease (EFO_0001645)
Released in PGS Catalog: Dec. 8, 2020
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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 PRS70_CAD
Development Method
Name Genome-wide significant variants
Parameters p < 5e-8
Variants
Original Genome Build GRCh37
Number of Variants 70
Effect Weight Type log(HR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000114
Citation (link to publication) Pechlivanis S et al. BMC Med Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 59.2%
Multi-ancestry (including European): 33%
  • European
  • South Asian
  • Not Reported
South Asian: 4.3%
East Asian: 1.9%
Hispanic or Latin American: 0.7%
African: 0.5%
Greater Middle Eastern: 0.4%
589,596 individuals (100%)
PGS Evaluation
European: 100%
8 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 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
GWAS Catalog: GCST000998
Europe PMC: 21378990
86,995 individuals European 12 cohorts
  • ADVANCE
  • ,AtheroRemo
  • ,CADomics
  • ,CHARGE
  • ,GerMIFS
  • ,LURIC
  • ,MIGen
  • ,MedSTAR
  • ,OHGS
  • ,PennCATH
  • ,WTCCC
  • ,deCODE_CAD
Europe PMC: 23202125
[
  • 63,746 cases
  • , 130,681 controls
]
European, South Asian, NR 40 cohorts
  • ADVANCE
  • ,AMC-PAS
  • ,Angio-Lueb
  • ,AtheroRemo
  • ,CADomics
  • ,CARDIOGENICS
  • ,CHARGE
  • ,DILGOM
  • ,Duke
  • ,EGCUT
  • ,EMIL
  • ,EPIC
  • ,FGENTCARD
  • ,FRISCII
  • ,GLACIER
  • ,GerMIFS
  • ,GoDARTS
  • ,HPS
  • ,ITH
  • ,KORA
  • ,LOLIPOP
  • ,LURIC
  • ,METSIM
  • ,MIGen
  • ,MORGAM
  • ,MedSTAR
  • ,OHGS
  • ,PIVUS
  • ,PMB
  • ,POPGEN
  • ,PROCARDIS
  • ,PROMIS
  • ,PennCATH
  • ,SCARFSHEEP
  • ,STR
  • ,THISEAS
  • ,ULSAM
  • ,WTCCC
  • ,WTCCC_CAD
  • ,deCODE_CAD
Europe PMC: 28209224
[
  • 42,335 cases
  • , 78,240 controls
]
European 24 cohorts
  • AMC-PAS
  • ,BHF-FHS
  • ,BioMe
  • ,BioVU
  • ,Duke
  • ,EGCUT
  • ,EPIC_CAD
  • ,GerMIFS
  • ,GoDARTS
  • ,HNR
  • ,HUNT
  • ,IATVB
  • ,MDC
  • ,MHI
  • ,MONICA
  • ,MSP
  • ,Munich_MI
  • ,OHS
  • ,POPGEN
  • ,PROCARDIS
  • ,PennCATH
  • ,VHS
  • ,VIP
  • ,WHI
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
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
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
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

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
PPM000996 PSS000508|
European Ancestry|
3,748 individuals
PGP000114 |
Pechlivanis S et al. BMC Med Genet (2020)
Reported Trait: Coronary artery calcification OR: 1.19 [1.1, 1.29] age, sex, cardiovascular risk factors (systolic blood pressure, antihypertensive medication, smoking, LDL-cholestrol, HDL-cholesterol, lipid lowering medication, BMI and diabetes).
PPM000995 PSS000505|
European Ancestry|
4,041 individuals
PGP000114 |
Pechlivanis S et al. BMC Med Genet (2020)
Reported Trait: Coronary artery calcification OR: 1.18 [1.1, 1.27] age, sex, cardiovascular risk factors (systolic blood pressure, antihypertensive medication, smoking, LDL-cholestrol, HDL-cholesterol, lipid lowering medication, BMI and diabetes).
PPM000993 PSS000509|
European Ancestry|
2,560 individuals
PGP000114 |
Pechlivanis S et al. BMC Med Genet (2020)
Reported Trait: Incident Coronary Heart Disease in indiviuals with coronary artery calcification > 0 HR: 1.21 [1.08, 1.36] age, sex, cardiovascular risk factors (systolic blood pressure, antihypertensive medication, smoking, LDL-cholestrol, HDL-cholesterol, lipid lowering medication, BMI and diabetes).
PPM000992 PSS000510|
European Ancestry|
1,765 individuals
PGP000114 |
Pechlivanis S et al. BMC Med Genet (2020)
Reported Trait: Incident Coronary Heart Disease in males HR: 1.23 [1.07, 1.41] age, cardiovascular risk factors (systolic blood pressure, antihypertensive medication, smoking, LDL-cholestrol, HDL-cholesterol, lipid lowering medication, BMI and diabetes) and coronary artery calcification.
PPM000991 PSS000506|
European Ancestry|
1,919 individuals
PGP000114 |
Pechlivanis S et al. BMC Med Genet (2020)
Reported Trait: Incident Coronary Heart Disease in males HR: 1.25 [1.1, 1.42] age
PPM000990 PSS000507|
European Ancestry|
3,748 individuals
PGP000114 |
Pechlivanis S et al. BMC Med Genet (2020)
Reported Trait: Incident Coronary Heart Disease HR: 1.18 [1.06, 1.31] age, sex, cardiovascular risk factors (systolic blood pressure, antihypertensive medication, smoking, LDL-cholestrol, HDL-cholesterol, lipid lowering medication, BMI and diabetes) and coronary artery calcification.
PPM000989 PSS000504|
European Ancestry|
4,041 individuals
PGP000114 |
Pechlivanis S et al. BMC Med Genet (2020)
Reported Trait: Incident Coronary Heart Disease HR: 1.18 [1.06, 1.31] age, sex
PPM000994 PSS000511|
European Ancestry|
1,426 individuals
PGP000114 |
Pechlivanis S et al. BMC Med Genet (2020)
Reported Trait: Incident Coronary Heart Disease in males with coronary artery calcification > 0 HR: 1.26 [1.09, 1.46] age, cardiovascular risk factors (systolic blood pressure, antihypertensive medication, smoking, LDL-cholestrol, HDL-cholesterol, lipid lowering medication, BMI and diabetes).

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
PSS000504 Participants with no prior Coronary Heart Disease (CHD) at the time of enrollment were included within the present study. Incidental CHD was the primary end-points of the study. CHD was defined as fatal and non-fatal myocardial infarction, stroke and coronary death. Median = 11.6 years
Sd = 3.7 years
[
  • 343 cases
  • , 3,698 controls
]
,
47.5 % Male samples
Mean = 58.9 years
Sd = 7.6 years
European HNR
PSS000505
[
  • 2,734 cases
  • , 1,307 controls
]
European HNR
PSS000506 Male participants with no prior Coronary Heart Disease (CHD) at the time of enrollment were included within the present study. Incidental CHD was the primary end-points of the study. CHD was defined as fatal and non-fatal myocardial infarction, stroke and coronary death.
[
  • 219 cases
  • , 1,700 controls
]
,
100.0 % Male samples
European HNR
PSS000507 Participants with no prior Coronary Heart Disease (CHD) at the time of enrollment were included within the present study. Incidental CHD was the primary end-points of the study. CHD was defined as fatal and non-fatal myocardial infarction, stroke and coronary death. Cardiovascular risk factor data required included smoking status, current use of medication, body mass index, levels of serum triglycerides, low densitity lipoprotein-cholesterol and high densitity lipoprotein-cholesterol and diabetes defined as either of 4 criteria (1) participants reported a history of clinically diagnosed diabetes, (2) participants took glucose-lowering medications, (3) participants had fasting glucose levels of greater than 125mg/dL or (4) participants had non-fasting glucose levels of 200mg/dL or greater.
[
  • 321 cases
  • , 3,427 controls
]
European HNR
PSS000508
[
  • 2,536 cases
  • , 1,212 controls
]
European HNR
PSS000509 Participants with no prior Coronary Heart Disease (CHD) at the time of enrollment with coronary artery calcification>0 were included. Incidental CHD was the primary end-points of the study. CHD was defined as fatal and non-fatal myocardial infarction, stroke and coronary death. Cardiovascular risk factor data required included smoking status, current use of medication, body mass index, levels of serum triglycerides, low densitity lipoprotein-cholesterol and high densitity lipoprotein-cholesterol and diabetes defined as either of 4 criteria (1) participants reported a history of clinically diagnosed diabetes, (2) participants took glucose-lowering medications, (3) participants had fasting glucose levels of greater than 125mg/dL or (4) participants had non-fasting glucose levels of 200mg/dL or greater.
[
  • 278 cases
  • , 2,282 controls
]
European HNR
PSS000510 Male participants with no prior Coronary Heart Disease (CHD) at the time of enrollment were included within the present study. Incidental CHD was the primary end-points of the study. CHD was defined as fatal and non-fatal myocardial infarction, stroke and coronary death. Cardiovascular risk factor data required included smoking status, current use of medication, body mass index, levels of serum triglycerides, low densitity lipoprotein-cholesterol and high densitity lipoprotein-cholesterol and diabetes defined as either of 4 criteria (1) participants reported a history of clinically diagnosed diabetes, (2) participants took glucose-lowering medications, (3) participants had fasting glucose levels of greater than 125mg/dL or (4) participants had non-fasting glucose levels of 200mg/dL or greater.
[
  • 202 cases
  • , 1,563 controls
]
,
100.0 % Male samples
European HNR
PSS000511 Male participants with no prior Coronary Heart Disease (CHD) at the time of enrollment with coronary artery calcification>0 were included. Incidental CHD was the primary end-points of the study. CHD was defined as fatal and non-fatal myocardial infarction, stroke and coronary death. Cardiovascular risk factor data required included smoking status, current use of medication, body mass index, levels of serum triglycerides, low densitity lipoprotein-cholesterol and high densitity lipoprotein-cholesterol and diabetes defined as either of 4 criteria (1) participants reported a history of clinically diagnosed diabetes, (2) participants took glucose-lowering medications, (3) participants had fasting glucose levels of greater than 125mg/dL or (4) participants had non-fasting glucose levels of 200mg/dL or greater.
[
  • 186 cases
  • , 1,240 controls
]
,
100.0 % Male samples
European HNR