Predicted Trait | |
Reported Trait | LDL cholesterol |
Mapped Trait(s) | low density lipoprotein cholesterol measurement (EFO_0004611) |
Score Construction | |
PGS Name | PRS28_LDL |
Development Method | |
Name | Genome-wide significant SNPs |
Parameters | NR |
Variants | |
Original Genome Build | hg19 |
Number of Variants | 28 |
Effect Weight Type | beta |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000420 |
Citation (link to publication) | Trinder M et al. J Am Coll Cardiol (2019) |
Ancestry Distribution | |
Source of Variant Associations (GWAS) | European: 100% 94,595 individuals (100%) |
PGS Evaluation | European: 100% 2 Sample Sets |
Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
---|---|---|---|
GWAS Catalog: GCST002220 Europe PMC: 24097068 |
94,595 individuals | European | NR |
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 |
---|---|---|---|---|---|---|---|---|
PPM017041 | PSS010102| European Ancestry| 626 individuals |
PGP000420 | Trinder M et al. J Am Coll Cardiol (2019) |
Reported Trait: LDL-C levels | — | — | pvalue (High >=80 percentile vs lower <80th percentile): 0.03 | — | — |
PPM017046 | PSS010104| European Ancestry| 89,528 individuals |
PGP000422 | Vanhoye X et al. Transl Res (2022) |Ext. |
Reported Trait: LDL-c blood concentration | β: 0.18 [0.18, 0.18] | AUROC: 0.6233 [0.617, 0.63] | R²: 0.1055 | Age, BMI, sex, age | — |
PPM017042 | PSS010102| European Ancestry| 626 individuals |
PGP000420 | Trinder M et al. J Am Coll Cardiol (2019) |
Reported Trait: Cardiovascular disease events in patients with monogenic familial hypercholesterolemia | — | — | Adjusted Hazard Ratio (aHR; top 20% vs. remaining): 3.06 [1.56, 5.99] | age, sex, LDL-C, diabetes mellitus, and hypertension | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS010102 | — | — | 626 individuals, 49.4 % Male samples |
Mean = 46.2 years | European | — | BCFH | — |
PSS010104 | — | — | 89,528 individuals | — | European | — | UKB | — |