| Predicted Trait | |
| Reported Trait | Venous thromboembolism |
| Mapped Trait(s) | venous thromboembolism (MONDO_0005399) |
| Additional Trait Information | cardiovascular outcome representing venous thromboembolism (VTE), including deep vein thrombosis and pulmonary embolism. Summary statistics used for polygenic score development were obtained from a multi-ethnic genome-wide association study conducted in the Million Veteran Program (PMID: 31676865). |
| Score Construction | |
| PGS Name | VTE_LD |
| Development Method | |
| Name | LDpred |
| Parameters | Polygenic score constructed using clumping and thresholding (LDpred) with genome-wide significant variants derived from MVP GWAS summary statistics |
| Variants | |
| Original Genome Build | GRCh38 |
| Number of Variants | 516,802 |
| Effect Weight Type | log(OR) |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000786 |
| Citation (link to publication) | Huang YJ et al. Nat Commun (2026) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 88.7% African: 7.9% Hispanic or Latin American: 3.4% 650,119 individuals (100%) |
| PGS Evaluation | |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST009097 Europe PMC: 31676865 |
51,661 individuals | African American or Afro-Caribbean | NR |
GWAS Catalog: GCST009097 Europe PMC: 31676865 |
21,868 individuals | Hispanic or Latin American | NR |
GWAS Catalog: GCST009097 Europe PMC: 31676865 |
576,590 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 |
|---|---|---|---|---|---|---|---|---|
| PPM030611 | PSS012201| Multi-ancestry (including European)| 9,115 individuals |
PGP000786 | Huang YJ et al. Nat Commun (2026) |
Reported Trait: Venous thromboembolism risk | β: 0.162 (0.028) | — | — | sex, age, age^2, BMI, 11 genetic PCs | Effect estimate corresponds to PRS per SD adjusted for genetic PCs. |
| PPM030612 | PSS012201| Multi-ancestry (including European)| 9,115 individuals |
PGP000786 | Huang YJ et al. Nat Commun (2026) |
Reported Trait: Venous thromboembolism risk | β: 0.163 (0.028) | — | — | sex, age, age^2, BMI, global ancestry proportions | Effect estimate corresponds to PRS per SD adjusted for global ancestry proportions. |
| PPM030613 | PSS012201| Multi-ancestry (including European)| 9,115 individuals |
PGP000786 | Huang YJ et al. Nat Commun (2026) |
Reported Trait: Venous thromboembolism risk | β: 0.161 (0.028) | — | — | sex, age, age^2, BMI, global ePRS | Effect estimate corresponds to residual PRS (rPRS) adjusted for global expected PRS (gePRS). |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS012201 | — | — | 1,520 individuals | — | African American or Afro-Caribbean | — | OOA | — |
| PSS012201 | — | — | 113 individuals | — | Hispanic or Latin American | — | OOA | — |
| PSS012201 | — | — | 7,482 individuals | — | European | — | OOA | — |