Polygenic Score (PGS) ID: PGS002248

Predicted Trait
Reported Trait Childhood asthma
Mapped Trait(s) childhood onset asthma (MONDO_0005405)
Released in PGS Catalog: Jan. 24, 2022
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Score Details

Score Construction
PGS Name PRSice_asthma
Development Method
Name PRSice (C+T)
Parameters r2<0.1
Variants
Original Genome Build GRCh37
Number of Variants 105
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000275
Citation (link to publication) Kothalawala DM et al. J Pers Med (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
314,633 individuals (100%)
Score Development/Training
European: 100%
908 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007800
Europe PMC: 30929738
314,633 individuals European UKB
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
[
  • 141 cases
  • , 767 controls
]
European NR 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

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
PPM012792 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 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 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 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 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 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