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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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 GRS50
Development Method
Name Genome-wide significant variants
Parameters Also includes the SNPs from GRS 27 (Mega et al.; PMID:25748612)
Variants
Original Genome Build NR
Number of Variants 50
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000004
Citation (link to publication) Tada H et al. Eur Heart J (2015)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 53.3%
  • European
  • South Asian
European: 40.3%
South Asian: 6.4%
365,042 individuals (100%)
PGS Evaluation
European: 61.5%
African: 15.4%
Hispanic or Latin American: 15.4%
Multi-ancestry (including European): 7.7%
  • European
  • Not Reported
13 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 21966275
[
  • 11,202 cases
  • , 30,773 controls
]
 European 10 cohorts
  • ARIC
  • ,BHF-FHS
  • ,BLOODOMICS
  • ,CARDIA
  • ,CHS
  • ,FOS
  • ,KORA
  • ,MONICA
  • ,PROCARDIS
  • ,PennCATH
Europe PMC: 21966275
[
  • 4,394 cases
  • , 4,259 controls
]
 South Asian LOLIPOP, PROMIS
Europe PMC: 23202125
[
  • 63,746 cases
  • , 130,681 controls
]
 European, South Asian 34 cohorts
  • ADVANCE
  • ,AMC-PAS
  • ,Angio-Lueb
  • ,CARDIOGENICS
  • ,COROGENE
  • ,DILGOM
  • ,Duke
  • ,EGCUT
  • ,EMIL
  • ,EPIC
  • ,FGENTCARD
  • ,FINCAVAS
  • ,FRISCII
  • ,GENRIC
  • ,GLACIER
  • ,GoDARTS
  • ,HPS
  • ,HSIEA
  • ,ITH
  • ,KORA
  • ,LOLIPOP
  • ,LURIC
  • ,METSIM
  • ,MORGAM
  • ,OHGS
  • ,PIVUS
  • ,PMB
  • ,POPGEN
  • ,PROCARDIS
  • ,PROMIS
  • ,SCARFSHEEP
  • ,STR
  • ,ULSAM
  • ,WTCCC
GWAS Catalog: GCST000998
Europe PMC: 2137899
 86,995 individuals European NR
GWAS Catalog: GCST000999
Europe PMC: 21378988
 14,790 individuals South Asian
(India, Pakistan)		 NR
GWAS Catalog: GCST000999
Europe PMC: 21378988
 15,682 individuals European NR
GWAS Catalog: GCST000338
Europe PMC: 19198612
 2,520 individuals European NR

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
PPM000016 PSS000010|
European Ancestry|
23,595 individuals
 PGP000004 |
Tada H et al. Eur Heart J (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|
European Ancestry|
39,758 individuals
 PGP000083 |
Dikilitas O et al. Am J Hum Genet (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|
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: 1.13 [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|
African Ancestry|
7,070 individuals
 PGP000083 |
Dikilitas O et al. Am J Hum Genet (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|
African Ancestry|
7,070 individuals
 PGP000083 |
Dikilitas O et al. Am J Hum Genet (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|
European Ancestry|
39,758 individuals
 PGP000083 |
Dikilitas O et al. Am J Hum Genet (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|
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: 1.12 [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|
European Ancestry|
22,389 individuals
 PGP000076 |
Khera AV et al. N Engl J Med (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|
European Ancestry|
21,222 individuals
 PGP000076 |
Khera AV et al. N Engl J Med (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|
European Ancestry|
7,814 individuals
 PGP000076 |
Khera AV et al. N Engl J Med (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|
Multi-ancestry (including European)|
482,629 individuals
 PGP000007 |
Inouye M et al. J Am Coll Cardiol (2018)
|Ext.		 Reported Trait: Incident coronary artery disease HR: 1.263 [1.247, 1.28] — — sex, genetic PCs (1-10), genotyping array —
PPM000497 PSS000284|
European Ancestry|
4,260 individuals
 PGP000076 |
Khera AV et al. N Engl J Med (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|
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: 1.2 [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|
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: 1.05 [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|
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: 1.28 [1.25, 1.32] AUROC: 0.75 — age at first EHR record, duration of EHR, sex, eMERGE site, first five ancestry-specific principal components —
PPM021303 PSS011680|
European Ancestry|
26,203 individuals
 PGP000627 |
Martikainen P et al. J Epidemiol Community Health (2021)
|Ext.		 Reported Trait: Incident coronary heart disease hospitalization or death — — Hazard Ratio (HR, top 25% vs bottom 25%): 1.55 [1.38, 1.76] Age as timescale, sex, region of residence, calendar year, study batch, PCs(1-10) —
PPM021304 PSS011680|
European Ancestry|
26,203 individuals
 PGP000627 |
Martikainen P et al. J Epidemiol Community Health (2021)
|Ext.		 Reported Trait: Incident coronary heart disease hospitalization or death — — Hazard Ratio (HR, top 25% vs bottom 25%): 1.56 [1.38, 1.77] Age as timescale, sex, region of residence, calendar year, study batch, PCs(1-10), education —
PPM021305 PSS011680|
European Ancestry|
26,203 individuals
 PGP000627 |
Martikainen P et al. J Epidemiol Community Health (2021)
|Ext.		 Reported Trait: Incident coronary heart disease hospitalization or death — — Hazard Ratio (HR, top 25% vs bottom 25%): 1.53 [1.35, 1.73] Age as timescale, sex, region of residence, calendar year, study batch, PCs(1-10), smoking, alcohol use, body mass index, high-density lipoprotein and total cholesterol, blood pressure, 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
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 —
PSS011680 At baseline, all individuals were free from coronary heart disease (CHD). Cases included individuals who were hospitalised due to CHD or suffered a fatal CHD event. CHD events were defined for non-fatal cases as the International Classification of Diseases ninth revision (ICD-9) codes 410 and 4110 (years 1992-1995) and ICD-10 codes I200, I21 or I22 (1996-2015) and Nordic Medico-Statistical Committee codes for coronary artery bypass graft or percutaneous coronary intervention in the hospital discharge register, and for fatal cases as ICD-9 codes 410-414 and 798 (not 7980A) and ICD-10 codes I20-25, I46, R96 and R98 in the causes of death register. Mean = 13.8 years
[
  • 2,063 cases
  • , 24,140 controls
]
,
46.74 % Male samples
 Mean = 48.0 years European
(Finnish)		 — FINRISK —
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
  • BioMe
  • ,BioVU
  • ,Columbia
  • ,KP
  • ,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
  • BioMe
  • ,BioVU
  • ,Columbia
  • ,KP
  • ,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
  • BioMe
  • ,BioVU
  • ,CCHMC
  • ,Columbia
  • ,KP
  • ,MAYO
  • ,Marshfield
  • ,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
  • BioMe
  • ,BioVU
  • ,CCHMC
  • ,Columbia
  • ,KP
  • ,MAYO
  • ,Marshfield
  • ,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
  • BioMe
  • ,BioVU
  • ,Columbia
  • ,KP
  • ,MAYO
  • ,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
  • BioMe
  • ,BioVU
  • ,Columbia
  • ,KP
  • ,MAYO
  • ,Nugene
  • ,PHB
  • ,eMERGE
 right censored at age 75 years or at the age of last observation (whichever was first)