Trait: obstructive sleep apnea

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003918
Description Cessation of air flow during sleep due to upper airway obstruction. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 26 synonyms
  • Apnea, Obstructive Sleep
  • Apneas, Obstructive Sleep
  • Apneas, obstructive sleep
  • OSAHS
  • Obstructive Sleep Apnea Syndrome
  • Obstructive Sleep Apneas
  • Osa
  • Sleep Apnea Syndrome, Obstructive
  • Sleep Apnea, Obstructive
  • Sleep Apneas, Obstructive
  • Syndrome, Obstructive Sleep Apnea
  • Syndrome, Sleep Apnea, Obstructive
  • Syndrome, Upper Airway Resistance, Sleep Apnea
  • Upper Airway Resistance Sleep Apnea Syndrome
  • apnea, obstructive sleep
  • obstructive sleep Apneas
  • obstructive sleep apnea
  • obstructive sleep apnea syndrome
  • sleep Apneas, obstructive
  • sleep apnea hypopnea syndrome
  • sleep apnea syndrome, obstructive
  • sleep apnea/hypopnea syndrome
  • syndrome, obstructive sleep apnea
  • syndrome, sleep apnea, obstructive
  • syndrome, upper airway resistance, sleep apnea
  • upper airway resistance sleep apnea syndrome
Mapped terms 17 mapped terms
  • DOID:0050848
  • HP:0002870
  • ICD10CM:G47.33
  • ICD9:327.23
  • ICD9:780.57
  • MEDGEN:101045
  • MESH:D020181
  • MONDO:0007147
  • MeSH:D020181
  • NCIT:C27168
  • NCIm:CL455363
  • NCIt:C116337
  • NCIt:C27168
  • OMIM:107650
  • SCTID:78275009
  • SNOMEDCT:78275009
  • UMLS:C0520679

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:
Display options:
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
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)
PGS003479
(LDPred2_SleepApnea)
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Obstructive sleep apnea obstructive sleep apnea 836,839
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003479/ScoringFiles/PGS003479.txt.gz
PGS003857
(GRS18_BMIunadj)
 PGP000496 |
Sofer T et al. EBioMedicine (2023)
 Obstructive sleep apnea obstructive sleep apnea 18
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003857/ScoringFiles/PGS003857.txt.gz
PGS003858
(GRS6_BMIadj)
 PGP000496 |
Sofer T et al. EBioMedicine (2023)
 Obstructive sleep apnea (BMI adjusted) obstructive sleep apnea 6
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003858/ScoringFiles/PGS003858.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
PPM017318 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: DBP β: 0.038 (0.093) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017319 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Eosinophils count β: 0.003 (0.002) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017320 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: FEV1/FVC ratio β: -0.035 (0.06) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017321 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Fasting insulin β: 0.156 (0.091) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017322 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HbA1c β: 0.291 (0.122) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017323 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Hematocrit β: 0.039 (0.031) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017324 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Hemoglobin β: 0.014 (0.011) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017325 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HOMA-B β: 1.851 (1.169) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017326 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HOMA-IR β: 0.051 (0.03) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017327 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Heart rate β: 0.038 (0.106) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017328 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Insomnia β: 0.015 (0.049) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017329 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: LDL β: -0.358 (0.336) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017330 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Lymphocyte count β: 0.002 (0.007) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017331 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Mean arterial pressure β: 0.011 (0.102) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017333 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: RBC β: 0.003 (0.003) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017334 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Sleep duration β: 0.0 (0.013) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017335 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Total cholesterol β: -0.324 (0.391) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017336 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Triglycerides β: 0.725 (0.93) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017337 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: WBC β: 0.006 (0.018) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017338 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Waist hip ratio β: 0.002 (0.001) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017339 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: FEV1/FVC ratio β: 0.002 (0.018) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017380 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: DBP in obsese β: -0.084 (0.148) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017381 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: DBP in non-obsese β: 0.116 (0.118) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017382 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Fasting insulin in obsese β: 0.201 (0.161) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017383 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Fasting insulin in non-obsese β: 0.175 (0.089) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017384 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HbA1c in obsese β: 0.052 (0.197) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017385 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HbA1c in non-obsese β: 0.488 (0.151) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017386 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HOMA-B in obsese β: 0.724 (2.105) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017387 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HOMA-B in non-obsese β: 1.664 (1.084) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017388 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HOMA-IR in obsese β: 0.076 (0.057) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017389 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: HOMA-IR in non-obsese β: 0.062 (0.029) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017390 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Waist hip ratio in obsese β: 0.002 (0.001) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017391 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Waist hip ratio in non-obsese β: 0.001 (0.001) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017332 PGS003479
(LDPred2_SleepApnea)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Pulse pressure β: -0.073 (0.104) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM018710 PGS003857
(GRS18_BMIunadj)
 PSS011076|
Multi-ancestry (including European)|
40,193 individuals
 PGP000496 |
Sofer T et al. EBioMedicine (2023)
 Reported Trait: BMI adjusted obstructive sleep apnea β: 0.014 (0.017) AUROC: 0.77 [0.75, 0.78] — BMI, age, sex, genetic batch, PCs 1-10 —
PPM018709 PGS003857
(GRS18_BMIunadj)
 PSS011076|
Multi-ancestry (including European)|
40,193 individuals
 PGP000496 |
Sofer T et al. EBioMedicine (2023)
 Reported Trait: BMI unadjusted obstructive sleep apnea β: 0.082 (0.016) AUROC: 0.66 [0.64, 0.67] — age, sex, genetic batch, PCs 1-10 —
PPM018711 PGS003858
(GRS6_BMIadj)
 PSS011076|
Multi-ancestry (including European)|
40,193 individuals
 PGP000496 |
Sofer T et al. EBioMedicine (2023)
 Reported Trait: BMI unadjusted obstructive sleep apnea β: 0.048 (0.015) AUROC: 0.62 [0.61, 0.64] — age, sex, genetic batch, PCs 1-10 —
PPM018712 PGS003858
(GRS6_BMIadj)
 PSS011076|
Multi-ancestry (including European)|
40,193 individuals
 PGP000496 |
Sofer T et al. EBioMedicine (2023)
 Reported Trait: BMI adjusted obstructive sleep apnea β: 0.066 (0.017) AUROC: 0.77 [0.76, 0.79] — BMI, age, sex, genetic batch, PCs 1-10 —

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
PSS010185 — — 1,115 individuals,
41.1 % Male samples
 Mean = 46.18 years Hispanic or Latin American — HCHS, SOL —
PSS011076 — — 2,023 individuals,
37.4 % Male samples
 Mean = 53.16 years
Sd = 16.23 years		 African unspecified — MGBB —
PSS011076 — — 932 individuals,
41.8 % Male samples
 Mean = 47.0 years
Sd = 15.67 years		 Asian unspecified — MGBB —
PSS011076 — — 34,764 individuals,
46.7 % Male samples
 Mean = 60.62 years
Sd = 16.83 years		 European — MGBB —
PSS011076 — — 1,182 individuals,
31.3 % Male samples
 Mean = 52.29 years
Sd = 16.56 years		 Hispanic or Latin American — MGBB —
PSS011076 — — 1,292 individuals,
46.8 % Male samples
 Mean = 52.08 years
Sd = 18.42 years		 Not reported — MGBB —