Trait: upper extremity fracture

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009514
Description A traumatic break in one or more of the bones in the arm, forearm, or hand. [ NCI ]
Trait category
Other disease
Synonym fracture of upper limb
Mapped terms 2 mapped terms
  • ICD10:T10
  • NCIt:C27782
Child trait(s) radius fracture

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 all PGS for "upper extremity fracture" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS001026
(GBE_HC83)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Forearm or wrist fracture upper extremity fracture 45
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001026/ScoringFiles/PGS001026.txt.gz
PGS001258
(GBE_HC57)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Radius fracture radius fracture 365
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001258/ScoringFiles/PGS001258.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
PPM007893 PGS001026
(GBE_HC83)
 PSS004647|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture forearm / wrist — AUROC: 0.57316 [0.48864, 0.65768] R²: 0.01719
Incremental AUROC (full-covars): 0.0117
PGS R2 (no covariates): 0.00036
PGS AUROC (no covariates): 0.49899 [0.40484, 0.59313]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007894 PGS001026
(GBE_HC83)
 PSS004648|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture forearm / wrist — AUROC: 0.75931 [0.65302, 0.8656] R²: 0.07041
Incremental AUROC (full-covars): 0.00842
PGS R2 (no covariates): 0.0034
PGS AUROC (no covariates): 0.56595 [0.41049, 0.72141]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007895 PGS001026
(GBE_HC83)
 PSS004649|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture forearm / wrist — AUROC: 0.61781 [0.5913, 0.64433] R²: 0.01996
Incremental AUROC (full-covars): 0.00765
PGS R2 (no covariates): 0.00371
PGS AUROC (no covariates): 0.55337 [0.52778, 0.57896]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007896 PGS001026
(GBE_HC83)
 PSS004650|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture forearm / wrist — AUROC: 0.60309 [0.54059, 0.6656] R²: 0.01453
Incremental AUROC (full-covars): -0.01824
PGS R2 (no covariates): 0.00052
PGS AUROC (no covariates): 0.48161 [0.4179, 0.54533]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007897 PGS001026
(GBE_HC83)
 PSS004651|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture forearm / wrist — AUROC: 0.61632 [0.60022, 0.63241] R²: 0.01772
Incremental AUROC (full-covars): 0.00729
PGS R2 (no covariates): 0.0027
PGS AUROC (no covariates): 0.54479 [0.52931, 0.56027]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008795 PGS001258
(GBE_HC57)
 PSS004531|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture radius — AUROC: 0.59097 [0.4568, 0.72514] R²: 0.0357
Incremental AUROC (full-covars): -0.02062
PGS R2 (no covariates): 0.00743
PGS AUROC (no covariates): 0.40578 [0.24928, 0.56228]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008796 PGS001258
(GBE_HC57)
 PSS004532|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture radius — AUROC: 0.76104 [0.63028, 0.8918] R²: 0.07491
Incremental AUROC (full-covars): 0.01558
PGS R2 (no covariates): 0.00161
PGS AUROC (no covariates): 0.53524 [0.32644, 0.74404]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008797 PGS001258
(GBE_HC57)
 PSS004533|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture radius — AUROC: 0.64808 [0.61916, 0.67701] R²: 0.03028
Incremental AUROC (full-covars): 0.0032
PGS R2 (no covariates): 0.00384
PGS AUROC (no covariates): 0.55216 [0.52295, 0.58137]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008798 PGS001258
(GBE_HC57)
 PSS004534|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture radius — AUROC: 0.66735 [0.59592, 0.73878] R²: 0.03501
Incremental AUROC (full-covars): -0.00475
PGS R2 (no covariates): 0.00103
PGS AUROC (no covariates): 0.52544 [0.45652, 0.59436]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008799 PGS001258
(GBE_HC57)
 PSS004535|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Fracture radius — AUROC: 0.64876 [0.63106, 0.66645] R²: 0.02773
Incremental AUROC (full-covars): 0.00901
PGS R2 (no covariates): 0.00379
PGS AUROC (no covariates): 0.55608 [0.53855, 0.57362]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS004647 — —
[
  • 34 cases
  • , 6,463 controls
]
 — African unspecified — UKB —
PSS004648 — —
[
  • 12 cases
  • , 1,692 controls
]
 — East Asian — UKB —
PSS004649 — —
[
  • 490 cases
  • , 24,415 controls
]
 — European non-white British ancestry UKB —
PSS004650 — —
[
  • 82 cases
  • , 7,749 controls
]
 — South Asian — UKB —
PSS004651 — —
[
  • 1,349 cases
  • , 66,076 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004531 — —
[
  • 15 cases
  • , 6,482 controls
]
 — African unspecified — UKB —
PSS004532 — —
[
  • 10 cases
  • , 1,694 controls
]
 — East Asian — UKB —
PSS004533 — —
[
  • 375 cases
  • , 24,530 controls
]
 — European non-white British ancestry UKB —
PSS004534 — —
[
  • 61 cases
  • , 7,770 controls
]
 — South Asian — UKB —
PSS004535 — —
[
  • 1,022 cases
  • , 66,403 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)