Polygenic Score (PGS) ID: PGS012520

Predicted Trait
Reported Trait Obstructive sleep apnea
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). The GWAS model did not adjust for body mass index (BMI).
Released in PGS Catalog: June 17, 2026
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Score Details

Score Construction
PGS Name OSA_bmi_unadj
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
Variants
Original Genome Build GRCh38
Number of Variants 17
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: 82.1%
African: 11.8%
Hispanic or Latin American: 5%
Additional Asian Ancestries: 0.9%
Not Reported: 0.1%
916,696 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • African
  • Hispanic or Latin American
  • Additional Asian Ancestries
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90274865
Europe PMC: 36989840
108,468 individuals African unspecified FinnGen, MGBB, MVP
GWAS Catalog: GCST90274865
Europe PMC: 36989840
8,081 individuals Asian unspecified FinnGen, MGBB, MVP
GWAS Catalog: GCST90274865
Europe PMC: 36989840
752,959 individuals European FinnGen, MGBB, MVP
GWAS Catalog: GCST90274865
Europe PMC: 36989840
45,896 individuals Hispanic or Latin American FinnGen, MGBB, MVP
GWAS Catalog: GCST90274865
Europe PMC: 36989840
1,292 individuals Not reported FinnGen, MGBB, MVP

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)
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
PPM030578 PSS012199|
Multi-ancestry (including European)|
16,422 individuals
PGP000786 |
Huang YJ et al. Nat Commun (2026)
Reported Trait: Obstructive sleep apnea β: 0.004 (0.025) sex, age, age^2, BMI, 11 genetic PCs Effect estimate corresponds to PRS per SD adjusted for genetic PCs.
PPM030579 PSS012199|
Multi-ancestry (including European)|
16,422 individuals
PGP000786 |
Huang YJ et al. Nat Commun (2026)
Reported Trait: Obstructive sleep apnea β: 0.003 (0.026) sex, age, age^2, BMI, global ancestry proportions Effect estimate corresponds to PRS per SD adjusted for global ancestry proportions.
PPM030580 PSS012199|
Multi-ancestry (including European)|
16,422 individuals
PGP000786 |
Huang YJ et al. Nat Commun (2026)
Reported Trait: Obstructive sleep apnea β: 0.003 (0.026) sex, age, age^2, BMI, global ePRS Effect estimate corresponds to residual PRS (rPRS) adjusted for global expected PRS (gePRS).
PPM030581 PSS012199|
Multi-ancestry (including European)|
16,422 individuals
PGP000786 |
Huang YJ et al. Nat Commun (2026)
Reported Trait: Obstructive sleep apnea β: 0.004 (0.026) sex, age, age^2, BMI, local ePRS Effect estimate corresponds to residual PRS (rPRS) adjusted for local expected PRS (lePRS).

Evaluated Samples

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