Trait: disease of bone structure

Trait Information
Identifier MONDO_0000836
Trait category
Other trait
Child trait(s) spondylosis

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
Note: This table shows PGS for child terms of "disease of bone structure" in the EFO hierarchy.
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)
PGS004484
(disease.M47.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M47 (Spondylosis) spondylosis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004484/ScoringFiles/PGS004484.txt.gz
PGS004485
(disease.M48.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M48 (Other spondylopathies) spondylosis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004485/ScoringFiles/PGS004485.txt.gz
PGS004554
(meta.M47.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M47 (Spondylosis) spondylosis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004554/ScoringFiles/PGS004554.txt.gz
PGS004555
(meta.M48.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M48 (Other spondylopathies) spondylosis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004555/ScoringFiles/PGS004555.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
PPM020599 PGS004484
(disease.M47.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M47 (Spondylosis) OR: 1.20173 — — — —
PPM020600 PGS004485
(disease.M48.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M48 (Other spondylopathies) OR: 1.18572 — — — —
PPM020669 PGS004554
(meta.M47.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M47 (Spondylosis) OR: 1.23056 — — — —
PPM020670 PGS004555
(meta.M48.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M48 (Other spondylopathies) OR: 1.1791 — — — —

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
PSS011364 — — 56,192 individuals — European — UKB —