| Predicted Trait | |
| Reported Trait | Hypercholesterolaemia (high cholesterol) |
| Mapped Trait(s) | Hypercholesterolemia (HP_0003124) |
| Additional Trait Information | Multi-latent polygenic score: LASSO combination of the 49 cardiac-MRI latent PRS to predict hypercholesterolaemia (high cholesterol). |
| Score Construction | |
| PGS Name | MultiPRS_high-cholesterol |
| Development Method | |
| Name | LASSO (L1-penalised logistic regression) |
| Parameters | LASSO combination of the 49 individual latent-phenotype PRS (scikit-learn LogisticRegressionCV, L1 penalty, saga solver, stratified 5-fold CV). The scoring file contains the collapsed per-variant weights of the genetic (PRS) component only; model covariates (age, sex, body surface area, 20 genetic PCs) are applied separately and are NOT part of the scoring file. |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 1,105,536 |
| Effect Weight Type | beta |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000826 |
| Citation (link to publication) | Ometto S et al. Nat Commun (2026) |
| Ancestry Distribution | |
| PGS Evaluation | European: 100% 3 Sample Sets |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PPM036543 | PSS012299| European Ancestry| 16,409 individuals |
PGP000826 | Ometto S et al. Nat Commun (2026) |
Reported Trait: Incident Hypercholesterolaemia (high cholesterol) (1-10 yr) | HR: 1.07 [1.06, 1.09] OR: 2.2 |
AUROC: 0.636 | — | age, sex, body surface area, PC1-PC20 | Multi-PRS + baseline (prognostic, 1-10 yr). OR per 1 SD (logOR=0.7905); HR per SD of PRS from Cox model (col D); DeLong p=0.1554642066384006. Sex='Both'. |
| PPM036544 | PSS012300| European Ancestry| 66,734 individuals |
PGP000826 | Ometto S et al. Nat Commun (2026) |
Reported Trait: Hypercholesterolaemia (high cholesterol) | OR: 2.63 | AUROC: 0.6709 | — | age, sex, body surface area, PC1-PC20 | Multi-PRS + baseline (whole cohort). OR per 1 SD (logOR=0.9651); DeLong p=2.460537834968397e-12. Sex='Both'. |
| PPM036542 | PSS012298| European Ancestry| 43,997 individuals |
PGP000826 | Ometto S et al. Nat Commun (2026) |
Reported Trait: Prevalent Hypercholesterolaemia (high cholesterol) | OR: 2.9 | AUROC: 0.682 | — | age, sex, body surface area, PC1-PC20 | Multi-PRS + baseline (diagnostic). OR per 1 SD of PRS (logOR=1.0659); DeLong p=7.96893866331471e-07. Sex='Both' (male/female strata also in Suppl. Data 27). |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS012298 | Balanced case/control cohort: cases from UK Biobank hospital/EHR & self-report; equal number of super-controls (no cardiac/metabolic disease) matched on age and sex. | — | 43,997 individuals | — | European | — | UKB | — |
| PSS012299 | Balanced case/control cohort: cases from UK Biobank hospital/EHR & self-report; equal number of super-controls (no cardiac/metabolic disease) matched on age and sex. | — | 16,409 individuals | — | European | — | UKB | — |
| PSS012300 | Balanced case/control cohort: cases from UK Biobank hospital/EHR & self-report; equal number of super-controls (no cardiac/metabolic disease) matched on age and sex. | — | 66,734 individuals | — | European | — | UKB | — |