Polygenic Score (PGS) ID: PGS001039

Predicted Trait
Reported Trait Right heel bone mineral density (BMD) T-score, automated
Mapped Trait(s) heel bone mineral density (EFO_0009270)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI4125
Released in PGS Catalog: Oct. 21, 2021
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Terms and Licenses
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.

Score Details

Score Construction
PGS Name GBE_INI4125
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 9,753
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%
103,563 individuals (100%)
PGS Evaluation
European: 40%
African: 20%
East Asian: 20%
South Asian: 20%
5 Sample Sets

Development Samples

Score Development/Training
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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
103,563 individualsEuropeanUKBwhite British ancestry
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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.

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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
PPM007953PSS007326|
African Ancestry|
3,592 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R): 0.02463 [0.01719, 0.03207]
Incremental R2 (full-covars): 0.00616
PGS R2 (no covariates): 0.00698 [0.00294, 0.01101]
age, sex, UKB array type, Genotype PCs
PPM007954PSS007327|
East Asian Ancestry|
782 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R): 0.09885 [0.072, 0.1257]
Incremental R2 (full-covars): 0.07541
PGS R2 (no covariates): 0.07555 [0.05147, 0.09963]
age, sex, UKB array type, Genotype PCs
PPM007955PSS007328|
European Ancestry|
10,633 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R): 0.1752 [0.16663, 0.18378]
Incremental R2 (full-covars): 0.11145
PGS R2 (no covariates): 0.11271 [0.10531, 0.12011]
age, sex, UKB array type, Genotype PCs
PPM007956PSS007329|
South Asian Ancestry|
5,041 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R): 0.08262 [0.07095, 0.0943]
Incremental R2 (full-covars): 0.05817
PGS R2 (no covariates): 0.05815 [0.0481, 0.06821]
age, sex, UKB array type, Genotype PCs
PPM007957PSS007330|
European Ancestry|
25,728 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R): 0.19359 [0.18823, 0.19894]
Incremental R2 (full-covars): 0.1242
PGS R2 (no covariates): 0.12266 [0.11802, 0.1273]
age, sex, UKB array type, Genotype PCs
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Evaluated Samples

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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
PSS0073263,592 individualsAfrican unspecifiedUKB
PSS007327782 individualsEast AsianUKB
PSS00732810,633 individualsEuropeannon-white British ancestryUKB
PSS0073295,041 individualsSouth AsianUKB
PSS00733025,728 individualsEuropeanwhite British ancestryUKBTesting cohort (heldout set)
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