Polygenic Score (PGS) ID: PGS000951

Predicted Trait
Reported Trait Heel Broadband ultrasound attenuation, direct entry
Mapped Trait(s) bone quantitative ultrasound measurement (EFO_0004514)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI3144
Released in PGS Catalog: Oct. 21, 2021
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Score Details

Score Construction
PGS Name GBE_INI3144
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 13,735
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000244
Citation (link to publication) Tanigawa Y et al. PLoS Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
155,513 individuals (100%)
PGS Evaluation
European: 40%
African: 20%
East Asian: 20%
South Asian: 20%
5 Sample Sets

Development Samples

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
155,513 individuals European UKB white British ancestry

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
PPM007579 PSS007226|
African Ancestry|
2,252 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel Broadband ultrasound attenuation, direct entry : 0.03865 [0.02946, 0.04783]
Incremental R2 (full-covars): 0.01472
PGS R2 (no covariates): 0.01564 [0.00966, 0.02163]
age, sex, UKB array type, Genotype PCs
PPM007580 PSS007227|
East Asian Ancestry|
795 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel Broadband ultrasound attenuation, direct entry : 0.09355 [0.06728, 0.11982]
Incremental R2 (full-covars): 0.05152
PGS R2 (no covariates): 0.05375 [0.03296, 0.07454]
age, sex, UKB array type, Genotype PCs
PPM007581 PSS007228|
European Ancestry|
12,376 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel Broadband ultrasound attenuation, direct entry : 0.1963 [0.18746, 0.20514]
Incremental R2 (full-covars): 0.11678
PGS R2 (no covariates): 0.11778 [0.11026, 0.1253]
age, sex, UKB array type, Genotype PCs
PPM007582 PSS007229|
South Asian Ancestry|
2,312 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel Broadband ultrasound attenuation, direct entry : 0.09722 [0.08476, 0.10969]
Incremental R2 (full-covars): 0.05231
PGS R2 (no covariates): 0.05582 [0.04594, 0.06569]
age, sex, UKB array type, Genotype PCs
PPM007583 PSS007230|
European Ancestry|
38,830 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel Broadband ultrasound attenuation, direct entry : 0.20634 [0.2009, 0.21179]
Incremental R2 (full-covars): 0.11895
PGS R2 (no covariates): 0.11837 [0.11379, 0.12295]
age, sex, UKB array type, Genotype 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
PSS007228 12,376 individuals European non-white British ancestry UKB
PSS007229 2,312 individuals South Asian UKB
PSS007230 38,830 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS007226 2,252 individuals African unspecified UKB
PSS007227 795 individuals East Asian UKB