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
Other disease
Synonyms 3 synonyms
  • narcolepsy with or without cataplexy
  • narcolepsy, without cataplexy
  • paroxysmal sleep
Mapped terms 9 mapped terms
  • DOID:8986
  • GARD:22460
  • MEDGEN:45001
  • MESH:D009290
  • NCIT:C84489
  • Orphanet:619284
  • SCTID:60380001
  • UMLS:C0027404
  • icd11.foundation:1201727099
Child trait(s) narcolepsy-cataplexy syndrome

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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000756
(GRS3_Nar)
 PGP000162 |
Ouyang H et al. Ann Transl Med (2020)
 Narcolepsy narcolepsy-cataplexy syndrome 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-cataplexy syndrome 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. PLoS Genet (2022)
 Daytime dozing / sleeping (narcolepsy) narcolepsy 4,194
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000926/ScoringFiles/PGS000926.txt.gz
PGS001995
(portability-PLR_narcolepsy)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Daytime dozing / sleeping (narcolepsy) narcolepsy 27,143
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001995/ScoringFiles/PGS001995.txt.gz
PGS002212
(portability-ldpred2_narcolepsy)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Daytime dozing / sleeping (narcolepsy) narcolepsy 893,802
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002212/ScoringFiles/PGS002212.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. PLoS Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — R²: 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. PLoS Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Incremental R2 (full-covars): 0.00183
R²: 0.03667 [0.01919, 0.05415]
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. PLoS Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — R²: 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. PLoS Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — R²: 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. PLoS Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — R²: 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 —
PPM010835 PGS001995
(portability-PLR_narcolepsy)
 PSS009478|
European Ancestry|
19,922 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0959 [0.0822, 0.1097] sex, age, birth date, deprivation index, 16 PCs —
PPM010836 PGS001995
(portability-PLR_narcolepsy)
 PSS009252|
European Ancestry|
4,057 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0898 [0.0591, 0.1203] sex, age, birth date, deprivation index, 16 PCs —
PPM010837 PGS001995
(portability-PLR_narcolepsy)
 PSS008806|
European Ancestry|
6,571 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0631 [0.039, 0.0872] sex, age, birth date, deprivation index, 16 PCs —
PPM010838 PGS001995
(portability-PLR_narcolepsy)
 PSS008580|
Greater Middle Eastern Ancestry|
1,078 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0622 [0.002, 0.1221] sex, age, birth date, deprivation index, 16 PCs —
PPM010839 PGS001995
(portability-PLR_narcolepsy)
 PSS008358|
South Asian Ancestry|
6,001 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0739 [0.0487, 0.0991] sex, age, birth date, deprivation index, 16 PCs —
PPM010840 PGS001995
(portability-PLR_narcolepsy)
 PSS008135|
East Asian Ancestry|
1,752 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0367 [-0.0104, 0.0837] sex, age, birth date, deprivation index, 16 PCs —
PPM010841 PGS001995
(portability-PLR_narcolepsy)
 PSS007922|
African Ancestry|
2,395 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0267 [-0.0135, 0.0668] sex, age, birth date, deprivation index, 16 PCs —
PPM010842 PGS001995
(portability-PLR_narcolepsy)
 PSS009026|
African Ancestry|
3,750 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0356 [0.0036, 0.0677] sex, age, birth date, deprivation index, 16 PCs —
PPM012543 PGS002212
(portability-ldpred2_narcolepsy)
 PSS009478|
European Ancestry|
19,922 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.1104 [0.0966, 0.1241] sex, age, birth date, deprivation index, 16 PCs —
PPM012544 PGS002212
(portability-ldpred2_narcolepsy)
 PSS009252|
European Ancestry|
4,057 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0922 [0.0616, 0.1227] sex, age, birth date, deprivation index, 16 PCs —
PPM012545 PGS002212
(portability-ldpred2_narcolepsy)
 PSS008806|
European Ancestry|
6,571 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0802 [0.0561, 0.1042] sex, age, birth date, deprivation index, 16 PCs —
PPM012546 PGS002212
(portability-ldpred2_narcolepsy)
 PSS008580|
Greater Middle Eastern Ancestry|
1,078 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0377 [-0.0227, 0.0977] sex, age, birth date, deprivation index, 16 PCs —
PPM012547 PGS002212
(portability-ldpred2_narcolepsy)
 PSS008358|
South Asian Ancestry|
6,001 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0784 [0.0531, 0.1035] sex, age, birth date, deprivation index, 16 PCs —
PPM012548 PGS002212
(portability-ldpred2_narcolepsy)
 PSS008135|
East Asian Ancestry|
1,752 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0407 [-0.0064, 0.0876] sex, age, birth date, deprivation index, 16 PCs —
PPM012549 PGS002212
(portability-ldpred2_narcolepsy)
 PSS007922|
African Ancestry|
2,395 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.05 [0.0098, 0.0901] sex, age, birth date, deprivation index, 16 PCs —
PPM012550 PGS002212
(portability-ldpred2_narcolepsy)
 PSS009026|
African Ancestry|
3,750 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Daytime dozing / sleeping (narcolepsy) — — Partial Correlation (partial-r): 0.0511 [0.019, 0.0831] sex, age, birth date, deprivation index, 16 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
PSS009252 — — 4,057 individuals — European Poland (NE Europe) UKB —
PSS008580 — — 1,078 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009478 — — 19,922 individuals — European UK (+ Ireland) UKB —
PSS008806 — — 6,571 individuals — European Italy (South Europe) UKB —
PSS008358 — — 6,001 individuals — South Asian India (South Asia) UKB —
PSS008135 — — 1,752 individuals — East Asian China (East Asia) UKB —
PSS007922 — — 2,395 individuals — African American or Afro-Caribbean Carribean UKB —
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 —
PSS009026 — — 3,750 individuals — African unspecified Nigeria (West Africa) UKB —