Polygenic Score (PGS) ID: PGS002137

Predicted Trait
Reported Trait Fractured/broken bones in last 5 years
Mapped Trait(s) bone fracture (MONDO_0005315)
Additional Trait Information injuries & poisonings
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-ldpred2_fracture_5y
Development Method
Name LDpred2 (bigsnpr)
Parameters LDpred2-auto using HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 738,021
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000263
Citation (link to publication) Privé F et al. Am J Hum Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
391,124 individuals (100%)
PGS Evaluation
European: 44.4%
African: 22.2%
East Asian: 11.1%
Greater Middle Eastern: 11.1%
South Asian: 11.1%
9 Sample Sets

Development Samples

Score Development/Training
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
— 391,124 individuals European UKB — — — UK (+ Ireland) —

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
PPM011947 PSS009408|
European Ancestry|
19,908 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Fractured/broken bones in last 5 years — — Partial Correlation (partial-r): 0.0679 [0.0541, 0.0818] sex, age, birth date, deprivation index, 16 PCs —
PPM011948 PSS009182|
European Ancestry|
4,090 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Fractured/broken bones in last 5 years — — Partial Correlation (partial-r): 0.0393 [0.0085, 0.0699] sex, age, birth date, deprivation index, 16 PCs —
PPM011949 PSS008736|
European Ancestry|
6,601 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Fractured/broken bones in last 5 years — — Partial Correlation (partial-r): 0.0452 [0.0211, 0.0693] sex, age, birth date, deprivation index, 16 PCs —
PPM011950 PSS008510|
Greater Middle Eastern Ancestry|
1,135 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Fractured/broken bones in last 5 years — — Partial Correlation (partial-r): 0.0645 [0.0059, 0.1228] sex, age, birth date, deprivation index, 16 PCs —
PPM011951 PSS008288|
South Asian Ancestry|
6,146 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Fractured/broken bones in last 5 years — — Partial Correlation (partial-r): 0.0394 [0.0144, 0.0644] sex, age, birth date, deprivation index, 16 PCs —
PPM011952 PSS008065|
East Asian Ancestry|
1,778 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Fractured/broken bones in last 5 years — — Partial Correlation (partial-r): 0.0126 [-0.0341, 0.0594] sex, age, birth date, deprivation index, 16 PCs —
PPM011953 PSS007852|
African Ancestry|
2,435 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Fractured/broken bones in last 5 years — — Partial Correlation (partial-r): 0.0112 [-0.0287, 0.051] sex, age, birth date, deprivation index, 16 PCs —
PPM011954 PSS008956|
African Ancestry|
3,821 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Fractured/broken bones in last 5 years — — Partial Correlation (partial-r): -0.0138 [-0.0455, 0.018] sex, age, birth date, deprivation index, 16 PCs —
PPM038727 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.01967 — — — —

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
PSS007852 — — 2,435 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008510 — — 1,135 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
 — European
(British, Irish)		 — UKB —
PSS009408 — — 19,908 individuals — European UK (+ Ireland) UKB —
PSS008956 — — 3,821 individuals — African unspecified Nigeria (West Africa) UKB —
PSS009182 — — 4,090 individuals — European Poland (NE Europe) UKB —
PSS008288 — — 6,146 individuals — South Asian India (South Asia) UKB —
PSS008065 — — 1,778 individuals — East Asian China (East Asia) UKB —
PSS008736 — — 6,601 individuals — European Italy (South Europe) UKB —