Polygenic Score (PGS) ID: PGS002517

Predicted Trait
Reported Trait Respiratory and ear-nose-throat diseases
Mapped Trait(s) respiratory system disease (EFO_0000684)
Released in PGS Catalog: June 9, 2022
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Score Details

Score Construction
PGS Name disease_RESPIRATORY_ENT.P+T.0.01
Development Method
Name Pruning + Thresholding
Parameters p < 0.01
Variants
Original Genome Build GRCh37
Number of Variants 93,256
Effect Weight Type BETA
PGS Source
PGS Catalog Publication (PGP) ID PGP000332
Citation (link to publication) Weissbrod O et al. Nat Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
337,488 individuals (100%)
PGS Evaluation
African: 25%
East Asian: 25%
European: 25%
South Asian: 25%
4 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
337,488 individuals European UKB

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
PPM013792 PSS009831|
African Ancestry|
6,503 individuals
PGP000332 |
Weissbrod O et al. Nat Genet (2022)
Reported Trait: Respiratory and ear-nose-throat diseases Incremental R2 (full model vs. covariates alone): 0.0002 age, sex, age‚age*sex, assessment center, genotyping array, 10 PCs
PPM013841 PSS009832|
East Asian Ancestry|
922 individuals
PGP000332 |
Weissbrod O et al. Nat Genet (2022)
Reported Trait: Respiratory and ear-nose-throat diseases Incremental R2 (full model vs. covariates alone): 0.0004 age, sex, age‚age*sex, assessment center, genotyping array, 10 PCs
PPM013890 PSS009833|
European Ancestry|
43,505 individuals
PGP000332 |
Weissbrod O et al. Nat Genet (2022)
Reported Trait: Respiratory and ear-nose-throat diseases Incremental R2 (full model vs. covariates alone): 0.0014 age, sex, age‚age*sex, assessment center, genotyping array, 10 PCs
PPM013939 PSS009834|
South Asian Ancestry|
8,098 individuals
PGP000332 |
Weissbrod O et al. Nat Genet (2022)
Reported Trait: Respiratory and ear-nose-throat diseases Incremental R2 (full model vs. covariates alone): 0.0011 age, sex, age‚age*sex, assessment center, genotyping array, 10 PCs

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
PSS009831 6,503 individuals African unspecified UKB
PSS009832 922 individuals East Asian UKB
PSS009833 43,505 individuals European Non-British European UKB
PSS009834 8,098 individuals South Asian UKB