PGS Publication: PGP000275

Publication Information (EuropePMC)
Title Integration of Genomic Risk Scores to Improve the Prediction of Childhood Asthma Diagnosis
PubMed ID 35055391(Europe PMC)
doi 10.3390/jpm12010075
Publication Date Jan. 8, 2022
Journal J Pers Med
Author(s) Kothalawala DM, Kadalayil L, Curtin JA, Murray CS, Simpson A, Custovic A, Tapper WJ, Arshad SH, Rezwan FI, Holloway JW, on behalf of STELAR/UNICORN investigators
Released in PGS Catalog: Jan. 24, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

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)
PGS002248
(PRSice_asthma)
PGP000275 |
Kothalawala DM et al. J Pers Med (2022)
Childhood asthma childhood onset asthma 105
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002248/ScoringFiles/PGS002248.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
PPM012792 PGS002248
(PRSice_asthma)
PSS009557|
European Ancestry|
898 individuals
PGP000275 |
Kothalawala DM et al. J Pers Med (2022)
Reported Trait: Childhood asthma by age 11 AUROC: 0.61
PPM012793 PGS002248
(PRSice_asthma)
PSS009558|
European Ancestry|
1,018 individuals
PGP000275 |
Kothalawala DM et al. J Pers Med (2022)
Reported Trait: Childhood asthma by age 8 AUROC: 0.65 [0.53, 0.77] CAPE model
PPM012791 PGS002248
(PRSice_asthma)
PSS009558|
European Ancestry|
1,018 individuals
PGP000275 |
Kothalawala DM et al. J Pers Med (2022)
Reported Trait: Childhood asthma by age 8 AUROC: 0.61
PPM012794 PGS002248
(PRSice_asthma)
PSS009557|
European Ancestry|
898 individuals
PGP000275 |
Kothalawala DM et al. J Pers Med (2022)
Reported Trait: Childhood asthma by age 11 AUROC: 0.71 [0.61, 0.8] CAPE model
PPM012795 PGS002248
(PRSice_asthma)
PSS009558|
European Ancestry|
1,018 individuals
PGP000275 |
Kothalawala DM et al. J Pers Med (2022)
Reported Trait: Childhood asthma by age 8 AUROC: 0.85 [0.77, 0.92] CAPP model
PPM012796 PGS002248
(PRSice_asthma)
PSS009557|
European Ancestry|
898 individuals
PGP000275 |
Kothalawala DM et al. J Pers Med (2022)
Reported Trait: Childhood asthma by age 11 AUROC: 0.81 [0.72, 0.89] CAPP model

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
PSS009558 School-age asthma diagnosis, evaluated at age 10, was defined as “a doctor diagnosis of asthma ever and at least one episode of wheezing or use of asthma medication in the last
[
  • 144 cases
  • , 874 controls
]
European MAAS
PSS009557 School-age asthma diagnosis, evaluated at age 10, was defined as “a doctor diagnosis of asthma ever and at least one episode of wheezing or use of asthma medication in the last
[
  • 116 cases
  • , 782 controls
]
European MAAS