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: March 4, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

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

PGS 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)
Evaluated Score 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
PPM000268 PGS000115 (LDL-C_20) PSS000182 PGP000053
Trinder M et al. (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)
PPM000267 PGS000115 (LDL-C_20) PSS000185 PGP000053
Trinder M et al. (2020)
Reported Trait: Serum low density lipoprotein cholesterol (LDL-C) levels β: 27.78 : 0.09 age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch)
PPM000266 PGS000115 (LDL-C_20) PSS000181 PGP000053
Trinder M et al. (2020)
Reported Trait: Serum low density lipoprotein cholesterol (LDL-C) levels β: 17.4 : 0.04 age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch)
PPM000265 PGS000115 (LDL-C_20) PSS000183 PGP000053
Trinder M et al. (2020)
Reported Trait: Serum low density lipoprotein cholesterol (LDL-C) levels β: 21.73 : 0.06 age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch)
PPM000264 PGS000115 (LDL-C_20) PSS000184 PGP000053
Trinder M et al. (2020)
Reported Trait: Serum low density lipoprotein cholesterol (LDL-C) levels β: 28.01 : 0.09 age, sex, 4 PCs of genetic ancestry, genotyping method (array and batch)

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
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
Other Combined analysis of European, East Asian and 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