Trait: narcolepsy

Trait Information
Identifier MONDO_0021107
Description A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. [NCIT: C84489]
Trait category
Neurological disorder
Synonyms 2 synonyms
  • narcolepsy
  • paroxysmal sleep
Mapped terms 7 mapped terms
  • DOID:8986
  • ICD9:347.00
  • MESH:D009290
  • NCIT:C84489
  • OMIMPS:161400
  • SCTID:60380001
  • UMLS:C0027404
Child trait(s) narcolepsy with cataplexy

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
Note: This table shows all PGS for "narcolepsy" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000756
(GRS3_Nar)
PGP000162 |
Ouyang H et al. Ann Transl Med (2020)
Narcolepsy narcolepsy with cataplexy 32
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000756/ScoringFiles/PGS000756.txt.gz
PGS000757
(GRS4_Nar)
PGP000162 |
Ouyang H et al. Ann Transl Med (2020)
Narcolepsy narcolepsy with cataplexy 5
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000757/ScoringFiles/PGS000757.txt.gz
PGS000926
(GBE_QT_FC1001220)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Daytime dozing / sleeping (narcolepsy) narcolepsy 4,194
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000926/ScoringFiles/PGS000926.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
PPM001925 PGS000756
(GRS3_Nar)
PSS000966|
East Asian Ancestry|
2,884 individuals
PGP000162 |
Ouyang H et al. Ann Transl Med (2020)
Reported Trait: Incident narcolepsy OR: 1.149 [1.119, 1.181] Odds Ratio (OR, high vs low risk): 2.586 [2.109, 3.173] Individuals with a high polygenic risk had a score ≥28. Individuals with a low polygenic risk had a score <25.
PPM001926 PGS000756
(GRS3_Nar)
PSS000966|
East Asian Ancestry|
2,884 individuals
PGP000162 |
Ouyang H et al. Ann Transl Med (2020)
Reported Trait: Incident narcolepsy OR: 1.152 [1.12, 1.185] AUROC: 0.723 Odds Ratio (OR, high vs low risk): 2.602 [2.097, 3.232] Gender Individuals with a high polygenic risk had a score ≥28. Individuals with a low polygenic risk had a score <25.
PPM001927 PGS000757
(GRS4_Nar)
PSS000966|
East Asian Ancestry|
2,884 individuals
PGP000162 |
Ouyang H et al. Ann Transl Med (2020)
Reported Trait: Incident narcolepsy OR: 1.449 [1.367, 1.536] Odds Ratio (OR, high vs low risk): 4.298 [3.378, 5.481] Individuals with a high polygenic risk had a score ≥8. Individuals with a low polygenic risk had a score <6.
PPM001928 PGS000757
(GRS4_Nar)
PSS000966|
East Asian Ancestry|
2,884 individuals
PGP000162 |
Ouyang H et al. Ann Transl Med (2020)
Reported Trait: Incident narcolepsy OR: 1.442 [1.357, 1.534] AUROC: 0.736 Odds Ratio (OR, high vs low risk): 4.157 [3.224, 5.371] Gender Individuals with a high polygenic risk had a score ≥8. Individuals with a low polygenic risk had a score <6.
PPM007457 PGS000926
(GBE_QT_FC1001220)
PSS007536|
African Ancestry|
6,254 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Daytime dozing / sleeping (narcolepsy) : 0.02468 [0.01723, 0.03213]
Incremental R2 (full-covars): -0.00089
PGS R2 (no covariates): 0.00034 [-0.00056, 0.00125]
age, sex, UKB array type, Genotype PCs
PPM007458 PGS000926
(GBE_QT_FC1001220)
PSS007537|
East Asian Ancestry|
1,629 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Daytime dozing / sleeping (narcolepsy) : 0.03667 [0.01919, 0.05415]
Incremental R2 (full-covars): 0.00183
PGS R2 (no covariates): 0.00244 [-0.00223, 0.0071]
age, sex, UKB array type, Genotype PCs
PPM007459 PGS000926
(GBE_QT_FC1001220)
PSS007538|
European Ancestry|
24,713 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Daytime dozing / sleeping (narcolepsy) : 0.02067 [0.01717, 0.02417]
Incremental R2 (full-covars): 0.00439
PGS R2 (no covariates): 0.00422 [0.00261, 0.00583]
age, sex, UKB array type, Genotype PCs
PPM007460 PGS000926
(GBE_QT_FC1001220)
PSS007539|
South Asian Ancestry|
7,410 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Daytime dozing / sleeping (narcolepsy) : 0.0158 [0.01032, 0.02128]
Incremental R2 (full-covars): 0.00236
PGS R2 (no covariates): 0.00251 [0.0003, 0.00473]
age, sex, UKB array type, Genotype PCs
PPM007461 PGS000926
(GBE_QT_FC1001220)
PSS007540|
European Ancestry|
67,196 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Daytime dozing / sleeping (narcolepsy) : 0.02284 [0.02061, 0.02507]
Incremental R2 (full-covars): 0.00532
PGS R2 (no covariates): 0.00542 [0.00431, 0.00652]
age, sex, UKB array type, Genotype PCs

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
PSS007536 6,254 individuals African unspecified UKB
PSS007537 1,629 individuals East Asian UKB
PSS007538 24,713 individuals European non-white British ancestry UKB
PSS007539 7,410 individuals South Asian UKB
PSS007540 67,196 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS000966 The narcolepsy patients had either hypocretin deficiency (CSF hypocretin-1 ≤110 pg/mL) or clear-cut cataplexy and HLA-DQB1*06:02.
[
  • 903 cases
  • , 1,981 controls
]
,
44.94 % Male samples
East Asian
(Han Chinese, Chinese)
NR