| Predicted Trait | |
| Reported Trait | Obstructive sleep apnea (adjusted for BMI) |
| Mapped Trait(s) | obstructive sleep apnea syndrome (MONDO_0007147) |
| Additional Trait Information | Binary sleep disorder outcome representing obstructive sleep apnea (OSA). Summary statistics used for polygenic score development were obtained from a multi-ethnic genome-wide association study conducted in the Million Veteran Program (PMID: 36989840). In this GWAS model, body mass index (BMI) was included as a covariate. |
| Score Construction | |
| PGS Name | OSA_bmi_adj |
| Development Method | |
| Name | Pruning and Thresholding (P+T) |
| Parameters | Polygenic score constructed using clumping and thresholding (P+T) with genome-wide significant variants derived from Million Veteran Program GWAS summary statistics for obstructive sleep apnea The underlying GWAS analysis included body mass index (BMI) as an adjustment covariate. |
| Variants | |
| Original Genome Build | GRCh38 |
| Number of Variants | 6 |
| Effect Weight Type | log(OR) |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000786 |
| Citation (link to publication) | Huang YJ et al. Nat Commun (2026) |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST90274866 Europe PMC: 36989840 |
108,468 individuals | African unspecified | FinnGen, MGBB, MVP |
GWAS Catalog: GCST90274866 Europe PMC: 36989840 |
8,081 individuals | Asian unspecified | FinnGen, MGBB, MVP |
GWAS Catalog: GCST90274866 Europe PMC: 36989840 |
752,959 individuals | European | FinnGen, MGBB, MVP |
GWAS Catalog: GCST90274866 Europe PMC: 36989840 |
45,896 individuals | Hispanic or Latin American | FinnGen, MGBB, MVP |
GWAS Catalog: GCST90274866 Europe PMC: 36989840 |
1,292 individuals | Not reported | FinnGen, MGBB, MVP |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PPM030574 | PSS012199| Multi-ancestry (including European)| 16,422 individuals |
PGP000786 | Huang YJ et al. Nat Commun (2026) |
Reported Trait: Obstructive sleep apnea (adjusted for BMI) | β: 0.07 (0.024) | — | — | sex, age, age^2, BMI, BMI^2, 11 genetic PCs | Effect estimate corresponds to PRS per SD adjusted for genetic PCs. |
| PPM030575 | PSS012199| Multi-ancestry (including European)| 16,422 individuals |
PGP000786 | Huang YJ et al. Nat Commun (2026) |
Reported Trait: Obstructive sleep apnea (adjusted for BMI) | β: 0.069 (0.024) | — | — | sex, age, age^2, BMI, BMI^2, global ancestry proportions | Effect estimate corresponds to PRS per SD adjusted for global ancestry proportions. |
| PPM030576 | PSS012199| Multi-ancestry (including European)| 16,422 individuals |
PGP000786 | Huang YJ et al. Nat Commun (2026) |
Reported Trait: Obstructive sleep apnea (adjusted for BMI) | β: 0.068 (0.024) | — | — | sex, age, age^2, BMI, BMI^2, global ePRS | Effect estimate corresponds to residual PRS (rPRS) adjusted for global expected PRS (gePRS). |
| PPM030577 | PSS012199| Multi-ancestry (including European)| 16,422 individuals |
PGP000786 | Huang YJ et al. Nat Commun (2026) |
Reported Trait: Obstructive sleep apnea (adjusted for BMI) | β: 0.069 (0.024) | — | — | sex, age, age^2, BMI, BMI^2, local ePRS | Effect estimate corresponds to residual PRS (rPRS) adjusted for local expected PRS (lePRS). |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS012199 | — | — | 3,222 individuals | — | African American or Afro-Caribbean | — | OOA | — |
| PSS012199 | — | — | 7,137 individuals | — | Hispanic or Latin American | — | OOA | — |
| PSS012199 | — | — | 228 individuals | — | Asian unspecified | — | OOA | — |
| PSS012199 | — | — | 5,835 individuals | — | European | — | OOA | — |