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PGS001344
GBE_BIN_FC4006152

Asthma (diagnosed by doctor)

Asthma is a chronic respiratory condition in which the airways become inflamed and narrowed, causing wheezing, shortness of breath, chest tightness, and coughing. It affects people of all ages but often starts in childhood. Both genetic susceptibility and environmental triggers such as allergens and pollution contribute to asthma risk.

Score Details

This score comes from the PGS Catalog, an open repository of published polygenic scoring models used in genomic research.

PGS ID
PGS001344
Score Name
GBE_BIN_FC4006152
Reported Trait
Asthma (diagnosed by doctor)
Development Method
snpnet
Number of Variants
6,139
Original Genome Build
GRCh37
Weight Type
NR
Release Date
October 21, 2021

Source Publication

Significant sparse polygenic risk scores across 813 traits in UK Biobank.

Tanigawa YPLoS GenetMarch 24, 2022

Development Samples

Polygenic risk scores are developed against large reference datasets. This score was built using the UK Biobank, a biomedical cohort with genetic and health data from roughly 500,000 participants — large enough to identify reliable genetic associations.

AncestrySample SizeCountryCohort
European(white British ancestry)216,121UKUKB

Ancestry Distribution

Development (216,121 individuals)

100%
European (100%)

Evaluation (5 sample sets)

40%
20%
20%
20%
European (40%)
African (20%)
East Asian (20%)
South Asian (20%)

Performance Evaluations

Polygenic risk scores are usually developed and validated in populations of European ancestry. Predictive accuracy can vary across ancestries because of differences in genetic architecture, linkage disequilibrium patterns, and allele frequencies. For binary traits like disease risk, AUROC measures how well the score separates cases from controls (0.5 = random, 1.0 = perfect). Values substantially below the best-performing ancestry are highlighted to flag reduced transferability.

AncestryThe broad ancestral population of the evaluation sample.NNumber of individuals in the evaluation sample.Proportion of variance explained by the full model (PGS + covariates). Higher is better.PGS R²Proportion of variance explained by the PGS alone, without covariates. Isolates the predictive power of the genetic score.AUROCArea Under the Receiver Operating Characteristic curve. Measures how well the score discriminates cases from controls. 0.5 = random, 1.0 = perfect.
African4,9560.05900.01180.6453[0.6239, 0.6668]
East Asian1,0720.04370.00130.6110[0.5650, 0.6569]
European19,8570.07600.05970.6662[0.6555, 0.6769]
South Asian6,2290.03330.02490.6102[0.5903, 0.6301]
European53,9360.06730.05690.6536[0.6471, 0.6602]

Covariates: age, sex, UKB array type, Genotype PCs

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PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.