Polygenic Score (PGS) ID: PGS000011

Predicted Trait
Reported Trait Coronary artery disease
Mapped Trait(s) coronary artery disease (EFO_0001645)
Released in PGS Catalog: Oct. 14, 2019
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Score Details

Score Construction
PGS Name GRS50
Variants
Original Genome Build NR
Number of Variants 50
Development Method
Name Genome-wide significant SNPs
Parameters Also includes the SNPs from GRS 27 (Mega et al.; PMID:25748612)
PGS Source
PGS Catalog Publication (PGP) ID PGP000004
Citation (link to publication) Tada H et al. Eur Heart J (2015)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
EuropePMC: 21966275
[
  • 11,202 cases
  • , 30,773 controls
]
European
EuropePMC: 21966275
[
  • 4,394 cases
  • , 4,259 controls
]
South Asian
EuropePMC: 23202125
[
  • 63,746 cases
  • , 130,681 controls
]
European, South Asian
GWAS Catalog: GCST000338
EuropePMC: 19198612
2,520 individuals European
GWAS Catalog: GCST000999
EuropePMC: 21378988
14,790 individuals South Asian
(India, Pakistan)
GWAS Catalog: GCST000999
EuropePMC: 21378988
15,682 individuals European
GWAS Catalog: GCST000998
EuropePMC: 2137899
86,995 individuals European

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 ID)
PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000016 PSS000010 PGP000004 Tada H et al. (2015) Reported Trait: Incident coronary heart disease HR: 1.23 [1.18, 1.28] age, sex, systolic blood pressure, hypertension treatment, smoking, apoB, apoA-I, prevalent diabetes
PPM000589 PSS000334 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Incident coronary heart disease HR: 1.2 [1.15, 1.25] C-index: 0.698 sex, eMERGE site, first five ancestry-specific principal components Age-as-time-scale Cox regression
PPM000595 PSS000336 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Incident coronary heart disease HR: 1.13 [0.93, 1.36] C-index: 0.654 sex, eMERGE site, first five ancestry-specific principal components Age-as-time-scale Cox regression
PPM000592 PSS000332 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Incident coronary heart disease HR: 1.05 [0.94, 1.17] C-index: 0.649 sex, eMERGE site, first five ancestry-specific principal components Age-as-time-scale Cox regression
PPM000618 PSS000332 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Incident coronary heart disease HR: 1.05 [0.94, 1.18] C-index: 0.704 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM000614 PSS000334 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Incident coronary heart disease HR: 1.2 [1.15, 1.25] C-index: 0.736 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM000622 PSS000336 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Incident coronary heart disease HR: 1.12 [0.93, 1.36] C-index: 0.708 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM000496 PSS000285 PGP000076 Khera AV et al. (2016) Ext. Reported Trait: Incident coronary artery disease Hazard Ratio (HR; top 20% of score vs bottom 20%): 1.98 [1.76, 2.23] age, sex, self reported education level
PPM000495 PSS000286 PGP000076 Khera AV et al. (2016) Ext. Reported Trait: Incident coronary artery disease Hazard Ratio (HR; top 20% of score vs bottom 20%): 1.94 [1.58, 2.39] age, self reported education level, treatment (vitamin E vs aspirin), 5 genetic principal components
PPM000494 PSS000283 PGP000076 Khera AV et al. (2016) Ext. Reported Trait: Incident coronary artery disease Hazard Ratio (HR; top 20% of score vs bottom 20%): 1.75 [1.46, 2.1] age, sex, self reported education level, 5 genetic principal components
PPM000029 PSS000018 PGP000007 Inouye M et al. (2018) Ext. Reported Trait: Incident coronary artery disease HR: 1.263 [1.247, 1.28] sex, genetic PCs (1-10), genotyping array
PPM000497 PSS000284 PGP000076 Khera AV et al. (2016) Ext. Reported Trait: Coronary artery calcification Agatston score (mean, top 20% of GRS): 46.0 [9.0, 54.0]
Agatston score (mean, btttom 25% of GRS): 21.0 [18.0, 25.0]
PPM000604 PSS000335 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.2 [1.06, 1.35] AUROC: 0.769 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components
PPM000601 PSS000331 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.05 [0.98, 1.14] AUROC: 0.763 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components
PPM000598 PSS000333 PGP000083 Dikilitas O et al. (2020) Ext. Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.28 [1.25, 1.32] AUROC: 0.75 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000283 Composite endpoint of either: myocardial infarction, coronary revascularization, death from coronary causes. Mean = 18.8 years
[
  • 1,230 cases
  • , 6,584 controls
]
,
45.0 % Male samples
Mean = 54.0 years
Sd = 5.7 years
European ARIC
PSS000284 Cross-sectional analysis of baseline scores for coronary artery calcification (Agatston score) 4,260 individuals,
44.0 % Male samples
Mean = 69.1 years
Sd = 6.0 years
European BioImage
PSS000285 Composite endpoint of either: myocardial infarction, coronary revascularization, death from coronary causes. Mean = 19.4 years
[
  • 2,902 cases
  • , 19,487 controls
]
,
38.0 % Male samples
Mean = 58.0 years
Sd = 7.7 years
European MDC-CC
PSS000286 Composite endpoint of either: myocardial infarction, coronary revascularization, death from coronary causes. Mean = 20.5 years
[
  • 971 cases
  • , 20,251 controls
]
,
0.0 % Male samples
Mean = 54.2 years
Sd = 7.1 years
European WGHS
PSS000010 Incident CHD was defined as coronary revascularization, fatal or nonfatal myocardial infarction, or death due to ischemic heart disease.
[
  • 2,213 cases
  • , 21,382 controls
]
,
38.03 % Male samples
European
(Swedish)
MDC Prospective study
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
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)