Polygenic Score (PGS) ID: PGS000818

Predicted Trait
Reported Trait Coronary heart disease
Mapped Trait(s) coronary artery disease (EFO_0001645)
Released in PGS Catalog: July 29, 2021
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Score Details

Score Construction
PGS Name GRS_Metabo
Development Method
Name Genome-wide significant variants
Parameters P < 5e-8
Variants
Original Genome Build GRCh37
Number of Variants 138
Effect Weight Type ln(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000202
Citation (link to publication) Bauer A et al. Genet Epidemiol (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Not Reported: 78%
Multi-ancestry (including European): 19%
  • European
  • South Asian
European: 3%
1,022,858 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 23202125
[
  • 63,746 cases
  • , 130,681 controls
]
European, South Asian 36 cohorts
  • ADVANCE
  • ,AMC-PAS
  • ,Angio-Lueb
  • ,CARDIOGENICS
  • ,CARDIoGRAMplusC4D
  • ,DILGOM
  • ,Duke
  • ,EGCUT
  • ,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
  • ,deCODE
Europe PMC: 28530674
[
  • 14,267 cases
  • , 16,167 controls
]
European CARDIoGRAMplusC4D, CCHS, CGPS, CIHDS, EPIC
GWAS Catalog: GCST005196
Europe PMC: 29212778
250,736 individuals Not reported CARDIoGRAMplusC4D
GWAS Catalog: GCST005195
Europe PMC: 29212778
547,261 individuals Not reported CARDIoGRAMplusC4D, UKB

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
PPM002180 PSS001064|
European Ancestry|
1,939 individuals
PGP000202 |
Bauer A et al. Genet Epidemiol (2021)
Reported Trait: Incident coronary heart disease HR: 1.2341 [1.1137, 1.3676]
PPM002181 PSS001064|
European Ancestry|
1,939 individuals
PGP000202 |
Bauer A et al. Genet Epidemiol (2021)
Reported Trait: Incident coronary heart disease HR: 1.2126 [1.0766, 1.3659] Age, sex, survey
PPM002178 PSS001063|
European Ancestry|
2,909 individuals
PGP000202 |
Bauer A et al. Genet Epidemiol (2021)
Reported Trait: Incident coronary heart disease C-index: 0.7571 [0.7234, 0.7908] Age, sex, survey
PPM002179 PSS001063|
European Ancestry|
2,909 individuals
PGP000202 |
Bauer A et al. Genet Epidemiol (2021)
Reported Trait: Incident coronary heart disease C-index: 0.792 [0.7622, 0.8219] Age, sex, survey, Framingham risk score (diabetes status, current and former smoking status, systolic blood pressure, antihypertensive medication, HDL cholesterol, total cholesterol)

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
PSS001064 Cases were individuals with incident coronary heart disesase (CHD). The outcome CHD was a combined endpoint of nonfatal myocardial infarction as well as coronary death and sudden death (International Classification of Disease 9th Revision: 410–414 and 798). Until December 2000, the diagnosis of a major, nonfatal myocardial infarction and coronary death was based on the MONICA algorithm in which a diagnosis of a major CHD event was based on symptoms, cardiac enzymes (creatine kinase, aspartate aminotransferase, and lactate dehydrogenase), serial changes from 12‐lead electrocardiograms (ECGs) evaluated by Minnesota coding, necropsy results and history of CHD in fatal cases. Since January 1, 2001, the diagnosis of myocardial infarction was based on the European Society of Cardiology and American College of Cardiology criteria. Incident events were identified through follow‐up questionnaires or through the MONICA/KORA myocardial infarction registry, which monitors the occurrence of all in‐ and out of‐hospital fatal and nonfatal myocardial infarctions among the 25–74‐year‐old inhabitants of the study region. Initially identified self‐reported incident cases and the self‐reported date of diagnosis not covered by the MONICA/KORA myocardial infarction registry, were validated by hospital records or by contacting the patient's treating physician. Deaths from myocardial in- farction were validated by death certificates, autopsy reports, chart reviews, or information from the last treating physician. Median = 14.0 years
IQR = [10.3, 14.0] years
[
  • 451 cases
  • , 1,488 controls
]
,
53.06 % Male samples
European KORA
PSS001063 Cases were individuals with incident coronary heart disesase (CHD). The outcome CHD was a combined endpoint of nonfatal myocardial infarction as well as coronary death and sudden death (International Classification of Disease 9th Revision: 410–414 and 798). Until December 2000, the diagnosis of a major, nonfatal myocardial infarction and coronary death was based on the MONICA algorithm in which a diagnosis of a major CHD event was based on symptoms, cardiac enzymes (creatine kinase, aspartate aminotransferase, and lactate dehydrogenase), serial changes from 12‐lead electrocardiograms (ECGs) evaluated by Minnesota coding, necropsy results and history of CHD in fatal cases. Since January 1, 2001, the diagnosis of myocardial infarction was based on the European Society of Cardiology and American College of Cardiology criteria. Incident events were identified through follow‐up questionnaires or through the MONICA/KORA myocardial infarction registry, which monitors the occurrence of all in‐ and out of‐hospital fatal and nonfatal myocardial infarctions among the 25–74‐year‐old inhabitants of the study region. Initially identified self‐reported incident cases and the self‐reported date of diagnosis not covered by the MONICA/KORA myocardial infarction registry, were validated by hospital records or by contacting the patient's treating physician. Deaths from myocardial in- farction were validated by death certificates, autopsy reports, chart reviews, or information from the last treating physician. Median = 14.0 years
IQR = [14.0, 14.0] years
[
  • 160 cases
  • , 2,749 controls
]
,
48.1 % Male samples
European KORA