PGS Publication: PGP000734

Publication Information (EuropePMC)
Title Polygenic scores for obstructive sleep apnoea reveal pathways contributing to cardiovascular disease.
PubMed ID 40472801(Europe PMC)
doi 10.1016/j.ebiom.2025.105790
Publication Date June 4, 2025
Journal EBioMedicine
Author(s) Kurniansyah N, Strausz SJ, Chittoor G, Gupta S, Justice AE, Hrytsenko Y, Keenan BT, Cade BE, Spitzer BW, Wang H, Huffman J, Moll MR, Haring B, Jung SY, Raffield LM, Kaplan R, Rotter JI, Rich SS, Gharib SA, Bartz TM, Liu PY, Chen H, Fornage M, Hou L, Levy D, Morrison AC, Ochs-Balcom HM, Psaty BM, Wilson PWF, Cho K, Pack AI, Ollila HM, Redline S, Gottlieb DJ, Sofer T, FinnGen, Trans-Omics in Precision Medicine Consortium, VA Million Veteran Program.
Released in PGS Catalog: June 16, 2025

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS005219
(PRS_BMIadjOSA)
 PGP000734 |
Kurniansyah N et al. EBioMedicine (2025)
 Obstructive sleep apnea (AdjustedBMI) obstructive sleep apnea 982,740
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005219/ScoringFiles/PGS005219.txt.gz
PGS005220
(PRS_BMIunadjOSA)
 PGP000734 |
Kurniansyah N et al. EBioMedicine (2025)
 Obstructive sleep apnea (UnadjustedBMI) obstructive sleep apnea 984,184
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005220/ScoringFiles/PGS005220.txt.gz

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) 		Evaluated Score 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
PPM022620 PGS005220
(PRS_BMIunadjOSA)
 PSS012043|
Multi-ancestry (including European)|
21,975 individuals
 PGP000734 |
Kurniansyah N et al. EBioMedicine (2025)
 Reported Trait: Obstructive sleep apnea OR: 1.53 [1.39, 1.68] AUROC: 0.79 — age, sex, self-reported race/ethnicity , BMI and 11PCs —
PPM022619 PGS005219
(PRS_BMIadjOSA)
 PSS012043|
Multi-ancestry (including European)|
21,975 individuals
 PGP000734 |
Kurniansyah N et al. EBioMedicine (2025)
 Reported Trait: Obstructive sleep apnea OR: 1.98 [1.74, 2.24] AUROC: 0.79 — age, sex, self-reported race/ethnicity , BMI and 11PCs —

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
PSS012043 — —
[
  • 4,463 cases
  • , 17,512 controls
]
,
47.0 % Male samples
 Mean = 53.0 years European, African American or Afro-Caribbean, East Asian, Hispanic or Latin American — OOA —