PGS Publication: PGP000710

Publication Information (EuropePMC)
Title Utilize polygenic risk score to enhance fracture risk estimation and improve the performance of FRAX in patients with osteoporosis.
PubMed ID 38036866(Europe PMC)
doi 10.1007/s11657-023-01357-0
Publication Date Dec. 1, 2023
Journal Arch Osteoporos
Author(s) Chen JJ, Chen IC, Wei CY, Lin SY, Chen YM.
Released in PGS Catalog: Feb. 26, 2025

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001955
(portability-PLR_log_heel_BMD)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Heel bone mineral density (BMD) heel bone mineral density 73,565
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001955/ScoringFiles/PGS001955.txt.gz

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) 		Evaluated Score 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
PPM022387 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Fracture of vertebral column without mention of spinal cord injury (Phecode 805) OR: 1.93 — — — —
PPM022388 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Osteoporosis (Phecode 743.1) OR: 1.68 — — — —
PPM022389 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Osteoporosis NOS (Phecode 743.11) OR: 1.68 — — — —
PPM022390 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Osteoporosis (Phecode 743) OR: 1.61 — — — —
PPM022391 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Fracture of upper limb (Phecode 803) OR: 2.93 — — — —
PPM022392 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Fracture of radius and ulna (Phecode 803.2) OR: 3.64 — — — —
PPM022393 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Fracture of lower limb (Phecode 800) OR: 2.51 — — — —
PPM022394 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Fracture of humerus (Phecode 803.1) OR: 3.54 — — — —
PPM022395 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Fracture of ankle and foot (Phecode 801) OR: 2.78 — — — —
PPM022396 PGS001955
(portability-PLR_log_heel_BMD)
 PSS011935|
East Asian Ancestry|
3,744 individuals
 PGP000710 |
Chen JJ et al. Arch Osteoporos (2023)
|Ext.		 Reported Trait: Fracture of tibia and fibula (Phecode 800.3) OR: 4.45 — — — —

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
PSS011935 — — 3,744 individuals,
24.0 % Male samples
 Mean = 66.7 years East Asian — TPMI —