Polygenic Score (PGS) ID: PGS000756

Predicted Trait
Reported Trait Narcolepsy
Mapped Trait(s) narcolepsy-cataplexy syndrome (MONDO_0016158)
Released in PGS Catalog: April 7, 2021
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Score Details

Score Construction
PGS Name GRS3_Nar
Development Method
Name SNPs previously associated with narcolepsy
Parameters R^2 < 0.25
Variants
Original Genome Build NR
Number of Variants 32
Effect Weight Type Unweighted
PGS Source
PGS Catalog Publication (PGP) ID PGP000162
Citation (link to publication) Ouyang H et al. Ann Transl Med (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 61.9%
East Asian: 38.1%
27,019 individuals (100%)
PGS Evaluation
East Asian: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST005522
Europe PMC: 23459209
 12,307 individuals European B58C, CCHMC, KORA
GWAS Catalog: GCST002260
Europe PMC: 24204295
 3,186 individuals East Asian NR
GWAS Catalog: GCST002912
Europe PMC: 25986216
 1,971 individuals East Asian NR
Europe PMC: 25669430
[
  • 807 cases
  • , 1,074 controls
]
 European NR
Europe PMC: 25669430
[
  • 1,078 cases
  • , 1,903 controls
]
 East Asian
(Chinese)		 NR
GWAS Catalog: GCST000236
Europe PMC: 18820697
 611 individuals East Asian NR
Europe PMC: 24381371
[
  • 562 cases
  • , 702 controls
]
 European NR
GWAS Catalog: GCST000771
Europe PMC: 20711174
 1,264 individuals European NR
Europe PMC: 22177342
[
  • 510 cases
  • , 452 controls
]
 East Asian
(Han Chinese, Chinese)		 NR
Europe PMC: 20677014
[
  • 212 cases
  • , 380 controls
]
 East Asian NR

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) 		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 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 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.

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
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 —