PGS Catalog - PGS002768 / Osteoporosis (Polygenic Score)

Polygenic Score (PGS) ID: PGS002768

Predicted Trait
Reported Trait	Osteoporosis
Mapped Trait(s)	osteoporosis (EFO_0003882) heel bone mineral density (EFO_0009270)
Additional Trait Information	PGS for bone mineral density (BMD), with high PRS indicating low BMD

Released in PGS Catalog: Nov. 7, 2022

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Score Details

Score Construction
PGS Name	BMD_prscs
Development Method
Name	PRS-CS
Parameters	PRS-CS-auto in FinnGen, LD reference panel: European ancestry in 1000 Genomes
Variants
Original Genome Build	GRCh38
Number of Variants	1,091,549
Effect Weight Type	beta

PGS Source
PGS Catalog Publication (PGP) ID	PGP000364
Citation (link to publication)	Mars N et al. Am J Hum Genet (2022)

Ancestry Distribution
Source of Variant Associations (GWAS)	European: 100% 394,929 individuals (100%)
PGS Evaluation	European: 100% 1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)

Study Identifiers	Sample Numbers	Sample Ancestry	Cohort(s)
GWAS Catalog: GCST006433 Europe PMC: 30048462	394,929 individuals	European	NR

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
PPM014968	PSS009939\| European Ancestry\| 39,444 individuals	PGP000364 \| Mars N et al. Am J Hum Genet (2022)	Reported Trait: Osteoporosis	OR: 1.31 [1.25, 1.38]	—	—	age, sex, 10 PCs, technical covariates	—

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
PSS009939	—	—	39,444 individuals	—	European (Finnish)	—	FinnGen	—