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(Variants and weights)

Polygenic Score (PGS) ID: PGS000059

Predicted Trait

Reported Trait: Coronary heart disease
Mapped Trait(s) (Experimental Factor Ontology (EFO) IDs): coronary heart disease

Score Details

Name: CHD46

Original Genome Build: NR
Number of Variants: 46

PGS Development Method: Literature-derived SNP selection
PGS Development Details/Relevant Parameters: NR

Citation: Hajek C et al. Circ Genom Precis Med (2018) | PGS Catalog Publication ID: PGP000044

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
PubMed: 23202125.0 194,427 individuals
[ 63,746 cases, 130,681 controls]
Other
GWAS Catalog: GCST003116
PubMed: 26343387
11,323 individuals East Asian
GWAS Catalog: GCST003116
PubMed: 26343387
25,557 individuals South Asian
GWAS Catalog: GCST003116
PubMed: 26343387
2,268 individuals Greater Middle Eastern (Middle Eastern, North African or Persian)
GWAS Catalog: GCST003116
PubMed: 26343387
4,095 individuals Hispanic or Latin American
GWAS Catalog: GCST003116
PubMed: 26343387
141,217 individuals European
GWAS Catalog: GCST003116
PubMed: 26343387
3,139 individuals African American or Afro-Caribbean
GWAS Catalog: GCST000030
PubMed: 17478679
8,335 individuals European
GWAS Catalog: GCST000057
PubMed: 17634449
4,864 individuals European
GWAS Catalog: GCST000338
PubMed: 19198612
2,520 individuals European
GWAS Catalog: GCST000875
PubMed: 21088011
2,905 individuals European
GWAS Catalog: GCST000946
PubMed: 21239051
7,311 individuals European
GWAS Catalog: GCST000945
PubMed: 21239051
2,723 individuals European
GWAS Catalog: GCST001000
PubMed: 21378986
460 individuals East Asian
GWAS Catalog: GCST000999
PubMed: 21378988
14,790 individuals South Asian
(India, Pakistan)
GWAS Catalog: GCST000999
PubMed: 21378988
15,682 individuals European
PubMed: 21673312.0 86,995 individuals
[ 22,233 cases, 64,762 controls]
European
(European )
GWAS Catalog: GCST001079
PubMed: 21606135
5,031 individuals European
GWAS Catalog: GCST001587
PubMed: 22751097
6,534 individuals East Asian

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 (PPM) ID PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000149 PSS000095 Hajek C et al. (2018) Reported Trait: Incident coronary heart disease HR (top vs. bottom quartiles of GRS): 1.92 [1.19 - 3.11]
p-value (association between risk and incidence): 0.029
NR
PPM000150 PSS000094 Hajek C et al. (2018) Reported Trait: Incident coronary heart disease HR (top vs. bottom quartiles of GRS): 0.76 [0.41 - 1.39]
p-value (association between risk and incidence): 0.31
NR

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000094 Incident CHD was defined as myocardial infarction (MI), resuscitated cardiac arrest, definite or probable angina if followed by a revascularization and CHD death 1,320 individuals
[ 86 cases, 1,234 controls]
European Analysis restricted to "White participants" MESA
PSS000095 Incident CHD was defined as myocardial infarction (MI), resuscitated cardiac arrest, definite or probable angina if followed by a revascularization and CHD death 1,206 individuals
[ 144 cases, 1,062 controls]
European Analysis restricted to "White participants" MESA