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 |
3 synonyms
|
Mapped terms |
8 mapped terms
|
Child trait(s) | narcolepsy-cataplexy syndrome |
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 |
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 | — |
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. | — | [ ,
44.94 % Male samples |
— | East Asian (Han Chinese, Chinese) |
— | NR | — |
PSS009026 | — | — | 3,750 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |