Polygenic Score (PGS) ID: PGS000200

Predicted Trait
Reported Trait Coronary heart disease
Mapped Trait(s) coronary heart disease (EFO_0001645)
Released in PGS: June 3, 2020

Score Details

Score Construction
PGS Name GRS28
Variants
Original Genome Build NR
Number of Variants 28
Development Method
Name GWAS significant SNPs
Parameters NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000082
Citation (link to publication) Tikkanen E et al. Arterioscler Thromb Vasc Biol (2013)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST000340
EuropePMC: 19198609
6,042 individuals European
GWAS Catalog: GCST000998
EuropePMC: 21378990
86,995 individuals European
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

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
PPM000583 PSS000330 PGP000082
Tikkanen E et al. (2013)
Reported Trait: Incident cardiovascular disease HR: 1.18[1.12, 1.24] sex, total cholesterol, high-density lipoprotein–cholesterol, body mass index, systolic blood pressure, antihypertensive treatment, smoking, type 2 diabetes mellitus Age as timescale Cox regression
PPM000588 PSS000328 PGP000082
Tikkanen E et al. (2013)
Reported Trait: Incident acute coronary syndrome C-index: 0.859 ΔC-index (over covariate only model): 0.004[0.003, 0.005] sex, total cholesterol, high-density lipoprotein–cholesterol, body mass index, systolic blood pressure, antihypertensive treatment, smoking, type 2 diabetes mellitus, family history Age as timescale Cox regression
PPM000587 PSS000329 PGP000082
Tikkanen E et al. (2013)
Reported Trait: Incident coronary heart disease C-index: 0.856 ΔC-index (over covariate only model): 0.005[0.004, 0.006] sex, total cholesterol, high-density lipoprotein–cholesterol, body mass index, systolic blood pressure, antihypertensive treatment, smoking, type 2 diabetes mellitus, family history Age as timescale Cox regression
PPM000586 PSS000330 PGP000082
Tikkanen E et al. (2013)
Reported Trait: Incident cardiovascular disease C-index: 0.84 ΔC-index (over covariate only model): 0.003[0.002, 0.004] sex, total cholesterol, high-density lipoprotein–cholesterol, body mass index, systolic blood pressure, antihypertensive treatment, smoking, type 2 diabetes mellitus, family history Age as timescale Cox regression
PPM000585 PSS000328 PGP000082
Tikkanen E et al. (2013)
Reported Trait: Incident acute coronary syndrome HR: 1.27[1.18, 1.37] sex, total cholesterol, high-density lipoprotein–cholesterol, body mass index, systolic blood pressure, antihypertensive treatment, smoking, type 2 diabetes mellitus Age as timescale Cox regression
PPM000617 PSS000332 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Incident coronary heart disease HR: 1.11[0.99, 1.25] C-index: 0.706 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM000613 PSS000334 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Incident coronary heart disease HR: 1.17[1.12, 1.22] C-index: 0.735 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM000612 PSS000335 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.27[1.12, 1.42] AUROC: 0.771 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components
PPM000611 PSS000331 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.07[0.99, 1.16] AUROC: 0.763 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components
PPM000610 PSS000333 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Coronary heart disease (incident and prevalent) OR: 1.24[1.21, 1.28] AUROC: 0.748 age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components
PPM000609 PSS000336 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Incident coronary heart disease HR: 1.14[0.94, 1.37] C-index: 0.655 sex, eMERGE site, first five ancestry-specific principal components
PPM000608 PSS000332 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Incident coronary heart disease HR: 1.11[0.99, 1.24] C-index: 0.652 sex, eMERGE site, first five ancestry-specific principal components
PPM000607 PSS000334 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Incident coronary heart disease HR: 1.18[1.13, 1.23] C-index: 0.697 sex, eMERGE site, first five ancestry-specific principal components
PPM000621 PSS000336 PGP000083
Dikilitas O et al. (2020)
Ext.
Reported Trait: Incident coronary heart disease HR: 1.13[0.93, 1.37] C-index: 0.709 sex, eMERGE site, diabetes, hypertension, hyperlipidemia, statin use, first 5 ancestry-specific principal components Age-as-time-scale Cox regression
PPM000584 PSS000329 PGP000082
Tikkanen E et al. (2013)
Reported Trait: Incident coronary heart disease HR: 1.27[1.2, 1.35] sex, total cholesterol, high-density lipoprotein–cholesterol, body mass index, systolic blood pressure, antihypertensive treatment, smoking, type 2 diabetes mellitus Age as timescale Cox regression

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000328 ACS was defined as MI, unstable angina or death due to CHD. Mean = 19.0 years
[
  • 235 cases
  • , 4,869 controls
]
,
44.8 % Male samples
Mean = 43.9 years
Sd = 11.3 years
European
(Finnish)
FINRISK FINRISK 1992
PSS000328 ACS was defined as MI, unstable angina or death due to CHD. Mean = 14.0 years
[
  • 229 cases
  • , 6,338 controls
]
,
45.8 % Male samples
Mean = 46.8 years
Sd = 12.9 years
European
(Finnish)
FINRISK97 FINRISK 1997
PSS000328 ACS was defined as MI, unstable angina or death due to CHD. Mean = 9.0 years
[
  • 148 cases
  • , 7,182 controls
]
,
45.0 % Male samples
Mean = 47.5 years
Sd = 13.0 years
European
(Finnish)
FINRISK FINRISK 2002
PSS000328 ACS was defined as MI, unstable angina or death due to CHD. Mean = 8.0 years
[
  • 119 cases
  • , 5,004 controls
]
,
46.3 % Male samples
Mean = 50.0 years
Sd = 11.7 years
European
(Finnish)
Health 2000
PSS000329 CHD was defined as myocardial infarction, unstable angina pectoris, coronary revascularization (coronary artery bypass graft or percutaneous transluminal coronary angioplasty), or death due to CHD. Mean = 19.0 years
[
  • 343 cases
  • , 4,761 controls
]
,
44.8 % Male samples
Mean = 43.9 years
Sd = 11.3 years
European
(Finnish)
FINRISK FINRISK 1992
PSS000329 CHD was defined as myocardial infarction, unstable angina pectoris, coronary revascularization (coronary artery bypass graft or percutaneous transluminal coronary angioplasty), or death due to CHD. Mean = 14.0 years
[
  • 344 cases
  • , 6,223 controls
]
,
45.8 % Male samples
Mean = 46.8 years
Sd = 12.9 years
European
(Finnish)
FINRISK97 FINRISK 1997
PSS000329 CHD was defined as myocardial infarction, unstable angina pectoris, coronary revascularization (coronary artery bypass graft or percutaneous transluminal coronary angioplasty), or death due to CHD. Mean = 9.0 years
[
  • 209 cases
  • , 7,121 controls
]
,
45.0 % Male samples
Mean = 47.5 years
Sd = 13.0 years
European
(Finnish)
FINRISK FINRISK 2002
PSS000329 CHD was defined as myocardial infarction, unstable angina pectoris, coronary revascularization (coronary artery bypass graft or percutaneous transluminal coronary angioplasty), or death due to CHD. Mean = 8.0 years
[
  • 197 cases
  • , 4,926 controls
]
,
46.3 % Male samples
Mean = 50.0 years
Sd = 11.7 years
European
(Finnish)
Health 2000
PSS000330 CHD was defined as myocardial infarction, unstable angina pectoris, coronary revascularization (coronary artery bypass graft or percutaneous transluminal coronary angioplasty), or death due to CHD. CVD included CHD and ischemic stroke events. Mean = 19.0 years
[
  • 501 cases
  • , 4,603 controls
]
,
44.8 % Male samples
Mean = 43.9 years
Sd = 11.3 years
European
(Finnish)
FINRISK FINRISK 1992
PSS000330 CHD was defined as myocardial infarction, unstable angina pectoris, coronary revascularization (coronary artery bypass graft or percutaneous transluminal coronary angioplasty), or death due to CHD. CVD included CHD and ischemic stroke events. Mean = 14.0 years
[
  • 499 cases
  • , 6,068 controls
]
,
45.8 % Male samples
Mean = 46.8 years
Sd = 12.9 years
European
(Finnish)
FINRISK97 FINRISK 1997
PSS000330 CHD was defined as myocardial infarction, unstable angina pectoris, coronary revascularization (coronary artery bypass graft or percutaneous transluminal coronary angioplasty), or death due to CHD. CVD included CHD and ischemic stroke events. Mean = 9.0 years
[
  • 291 cases
  • , 7,039 controls
]
,
45.0 % Male samples
Mean = 47.5 years
Sd = 13.0 years
European
(Finnish)
FINRISK FINRISK 2002
PSS000330 CHD was defined as myocardial infarction, unstable angina pectoris, coronary revascularization (coronary artery bypass graft or percutaneous transluminal coronary angioplasty), or death due to CHD. CVD included CHD and ischemic stroke events. Mean = 8.0 years
[
  • 261 cases
  • , 4,862 controls
]
,
46.3 % Male samples
Mean = 50.0 years
Sd = 11.7 years
European
(Finnish)
Health 2000
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
  • ,Partners
  • ,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
  • , 7,070 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
  • ,Partners
  • ,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
  • ,Marshfield
  • ,Mayo
  • ,Mount Sinai
  • ,MyCode
  • ,Nugene
  • ,Partners
  • ,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
  • , 39,758 controls
]
,
44.6 % Male samples
Mean = 49.0 years
Sd = 14.1 years
European 11 cohorts
  • BioVU
  • ,CCHMC
  • ,Columbia
  • ,KP
  • ,Marshfield
  • ,Mayo
  • ,Mount Sinai
  • ,MyCode
  • ,Nugene
  • ,Partners
  • ,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
  • ,Partners
  • ,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
  • , 2,194 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
  • ,Partners
  • ,eMERGE
right censored at age 75 years or at the age of last observation (whichever was first)