Trait: sleep apnea

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003877
Description A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. [MONDO: cjm] [MESH: D012891]
Trait category
Neurological disorder
Synonyms 27 synonyms
  • Apnea Syndrome, Sleep
  • Apnea Syndromes, Sleep
  • Apnea, Sleep
  • Apneas, Sleep
  • Breathing, Sleep-Disordered
  • Hypersomnia with Periodic Respiration
  • Hypopnea, Sleep
  • Hypopneas, Sleep
  • Mixed Central and Obstructive Sleep Apnea
  • Mixed Sleep Apnea
  • Mixed Sleep Apneas
  • SDB
  • Sleep Apnea Syndrome
  • Sleep Apnea Syndromes
  • Sleep Apnea, Mixed
  • Sleep Apnea, Mixed Central and Obstructive
  • Sleep Apneas
  • Sleep Apneas, Mixed
  • Sleep Disordered Breathing
  • Sleep Hypopnea
  • Sleep Hypopneas
  • Sleep-Disordered Breathing
  • sleep apnea
  • sleep apnea syndrome
  • sleep apneas
  • sleep disordered breathing
  • sleep-disordered breathing
Mapped terms 13 mapped terms
  • DOID:0050847
  • HP:0010535
  • ICD10CM:G47.3
  • ICD9:780.57
  • MESH:D012891
  • MONDO:0005296
  • MeSH:D012891
  • MedDRA:10040975
  • NCIT:C148023
  • NCIt:C26884
  • SCTID:111489007
  • SCTID:73430006
  • SNOMEDCT:73430006

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 Scoring File (FTP Link)
PGS003204
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_LASSOSUM_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 4,360
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003204/ScoringFiles/PGS003204.txt.gz
PGS003205
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PT_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 5,300
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003205/ScoringFiles/PGS003205.txt.gz
PGS003206
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PLINK_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 9,873
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003206/ScoringFiles/PGS003206.txt.gz
PGS003207
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_DBSLMM_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 355
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003207/ScoringFiles/PGS003207.txt.gz
PGS003208
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PRSCS_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 12,076
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003208/ScoringFiles/PGS003208.txt.gz
PGS003209
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_LASSOSUM_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 328,671
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003209/ScoringFiles/PGS003209.txt.gz
PGS003210
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_PT_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 40,992
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003210/ScoringFiles/PGS003210.txt.gz
PGS003211
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_PLINK_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 39,223
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003211/ScoringFiles/PGS003211.txt.gz
PGS003212
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_DBSLMM_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 7,601,206
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003212/ScoringFiles/PGS003212.txt.gz
PGS003213
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_PRSCS_MGI_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 1,111,194
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003213/ScoringFiles/PGS003213.txt.gz
PGS003214
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_LASSOSUM_UKB_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 5,812
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003214/ScoringFiles/PGS003214.txt.gz
PGS003215
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PT_UKB_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 1,209
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003215/ScoringFiles/PGS003215.txt.gz
PGS003216
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PLINK_UKB_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 688
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003216/ScoringFiles/PGS003216.txt.gz
PGS003217
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_DBSLMM_UKB_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 46
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003217/ScoringFiles/PGS003217.txt.gz
PGS003218
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PRSCS_UKB_20211120)
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Sleep Apnea sleep apnea 12,097
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003218/ScoringFiles/PGS003218.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
PPM015959 PGS003204
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_LASSOSUM_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 0.983 [0.952, 1.014]
β: -0.0174 (0.016)
AUROC: 0.49 [0.482, 0.499] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015965 PGS003205
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PT_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 0.998 [0.967, 1.03]
β: -0.00225 (0.0161)
AUROC: 0.5 [0.491, 0.509] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015961 PGS003206
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PLINK_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 0.975 [0.945, 1.007]
β: -0.0252 (0.0162)
AUROC: 0.49 [0.48, 0.499] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015957 PGS003207
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_DBSLMM_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 0.975 [0.945, 1.005]
β: -0.0258 (0.016)
AUROC: 0.492 [0.484, 0.501] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015963 PGS003208
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PRSCS_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.016 [0.984, 1.048]
β: 0.0154 (0.0161)
AUROC: 0.505 [0.497, 0.514] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015953 PGS003209
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_LASSOSUM_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.053 [1.02, 1.087]
β: 0.0517 (0.0162)
AUROC: 0.514 [0.506, 0.523] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015956 PGS003210
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_PT_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.073 [1.04, 1.108]
β: 0.0708 (0.0162)
AUROC: 0.519 [0.51, 0.528] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015954 PGS003211
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_PLINK_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.061 [1.028, 1.096]
β: 0.0595 (0.0162)
AUROC: 0.515 [0.506, 0.525] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015952 PGS003212
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_DBSLMM_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.014 [0.982, 1.046]
β: 0.0135 (0.016)
AUROC: 0.496 [0.487, 0.504] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015955 PGS003213
(ExPRSweb_SleepApnea_G6-SLEEPAPNO_PRSCS_MGI_20211120)
PSS010012|
European Ancestry|
21,354 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.106 [1.071, 1.142]
β: 0.101 (0.0162)
AUROC: 0.527 [0.517, 0.536] SEX,AGE,Batch,PC1,PC2,PC3,PC4
PPM015960 PGS003214
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_LASSOSUM_UKB_20211120)
PSS010032|
European Ancestry|
203,685 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.004 [0.962, 1.047]
β: 0.00364 (0.0214)
AUROC: 0.5 [0.489, 0.513] Sex,birthYear,genotyping.array,PC1,PC2,PC3,PC4
PPM015966 PGS003215
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PT_UKB_20211120)
PSS010032|
European Ancestry|
203,685 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 0.967 [0.928, 1.009]
β: -0.0331 (0.0215)
AUROC: 0.489 [0.477, 0.501] Sex,birthYear,genotyping.array,PC1,PC2,PC3,PC4
PPM015962 PGS003216
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PLINK_UKB_20211120)
PSS010032|
European Ancestry|
203,685 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 0.992 [0.951, 1.034]
β: -0.00819 (0.0214)
AUROC: 0.497 [0.485, 0.509] Sex,birthYear,genotyping.array,PC1,PC2,PC3,PC4
PPM015958 PGS003217
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_DBSLMM_UKB_20211120)
PSS010032|
European Ancestry|
203,685 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.021 [0.98, 1.064]
β: 0.0207 (0.0211)
AUROC: 0.485 [0.475, 0.495] Sex,birthYear,genotyping.array,PC1,PC2,PC3,PC4
PPM015964 PGS003218
(ExPRSweb_SleepApnea_finngen-R4-G6-SLEEPAPNO_PRSCS_UKB_20211120)
PSS010032|
European Ancestry|
203,685 individuals
PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
Reported Trait: Sleep Apnea OR: 1.003 [0.962, 1.046]
β: 0.00286 (0.0214)
AUROC: 0.5 [0.488, 0.512] Sex,birthYear,genotyping.array,PC1,PC2,PC3,PC4

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
PSS010032 PheCode 327.3 (http://phewascatalog.org/); Binary
[
  • 2,209 cases
  • , 201,476 controls
]
European UKB
PSS010012 PheCode 327.3 (http://phewascatalog.org/); Binary
[
  • 5,443 cases
  • , 15,911 controls
]
European MGI