PGS Publication: PGP000053

Publication Information (EuropePMC)
Title Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.
PubMed ID 32049305(Europe PMC)
doi 10.1001/jamacardio.2019.5954
Publication Date Feb. 12, 2020
Journal JAMA Cardiol
Author(s) Trinder M, Francis GA, Brunham LR.
Released in PGS Catalog: March 4, 2020

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000115
(LDL-C_20)
 PGP000053 |
Trinder M et al. JAMA Cardiol (2020)
 LDL cholesterol low density lipoprotein cholesterol measurement 223
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000115/ScoringFiles/PGS000115.txt.gz

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) 		Evaluated Score 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
PPM000264 PGS000115
(LDL-C_20)
 PSS000184|
European Ancestry|
439,871 individuals
 PGP000053 |
Trinder M et al. JAMA Cardiol (2020)
 Reported Trait: Serum low density lipoprotein cholesterol (LDL-C) levels β: 28.01 (0.18) — R²: 0.09 age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch) —
PPM000265 PGS000115
(LDL-C_20)
 PSS000183|
East Asian Ancestry|
10,640 individuals
 PGP000053 |
Trinder M et al. JAMA Cardiol (2020)
 Reported Trait: Serum low density lipoprotein cholesterol (LDL-C) levels β: 21.73 (1.25) — R²: 0.06 age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch) —
PPM000266 PGS000115
(LDL-C_20)
 PSS000181|
African Ancestry|
4,680 individuals
 PGP000053 |
Trinder M et al. JAMA Cardiol (2020)
 Reported Trait: Serum low density lipoprotein cholesterol (LDL-C) levels β: 17.4 (1.91) — R²: 0.04 age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch) —
PPM000267 PGS000115
(LDL-C_20)
 PSS000185|
Multi-ancestry (including European)|
455,191 individuals
 PGP000053 |
Trinder M et al. JAMA Cardiol (2020)
 Reported Trait: Serum low density lipoprotein cholesterol (LDL-C) levels β: 27.78 (0.18) — R²: 0.09 age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch) —
PPM000268 PGS000115
(LDL-C_20)
 PSS000182|
Multi-ancestry (including European)|
47,845 individuals
 PGP000053 |
Trinder M et al. JAMA Cardiol (2020)
 Reported Trait: Cardiovascular disease events — — Hazard Ratio (HR; top vs. bottom decile of risk): 1.35 [1.3, 1.4] age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch) —

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
PSS000181 LDL-C serum biochemistry was desribed previously (http://biobank.ndph.ox.ac.uk/showcase/showcase/docs/serum_biochemistry.pdf). — 4,680 individuals,
45.8 % Male samples
 Mean = 56.6 years
Sd = 8.1 years		 African unspecified — UKB Genotyping Array Cohort
PSS000182 Cardiovascular disease events were defined as coronary and carotid revascularization, myocardial infarction, ischemic stroke, and all-cause mortality. The CVD events occurring before and after enrollment were included. Events occurring prior to enrollment were identified by either self-reported medical history and/or previous hospital admission documented in an electronic health record. —
[
  • 5,397 cases
  • , 42,448 controls
]
,
43.36 % Male samples
 Mean = 56.64 years
Sd = 7.99 years		 European, East Asian, African unspecified — UKB Genotyping Array & Exome Sequencing Cohort
PSS000183 LDL-C serum biochemistry was desribed previously (http://biobank.ndph.ox.ac.uk/showcase/showcase/docs/serum_biochemistry.pdf). — 10,640 individuals,
45.8 % Male samples
 Mean = 56.6 years
Sd = 8.1 years		 East Asian — UKB Genotyping Array Cohort
PSS000184 LDL-C serum biochemistry was desribed previously (http://biobank.ndph.ox.ac.uk/showcase/showcase/docs/serum_biochemistry.pdf). — 439,871 individuals,
45.8 % Male samples
 Mean = 56.6 years
Sd = 8.1 years		 European — UKB Genotyping Array Cohort
PSS000185 LDL-C serum biochemistry was desribed previously (http://biobank.ndph.ox.ac.uk/showcase/showcase/docs/serum_biochemistry.pdf). — 439,871 individuals,
45.8 % Male samples
 Mean = 56.6 years
Sd = 8.1 years		 European — UKB Genotyping Array Cohort
PSS000185 LDL-C serum biochemistry was desribed previously (http://biobank.ndph.ox.ac.uk/showcase/showcase/docs/serum_biochemistry.pdf). — 10,640 individuals,
45.8 % Male samples
 Mean = 56.6 years
Sd = 8.1 years		 East Asian — UKB Genotyping Array Cohort
PSS000185 LDL-C serum biochemistry was desribed previously (http://biobank.ndph.ox.ac.uk/showcase/showcase/docs/serum_biochemistry.pdf). — 4,680 individuals,
45.8 % Male samples
 Mean = 56.6 years
Sd = 8.1 years		 African unspecified — UKB Genotyping Array Cohort