Polygenic Score (PGS) ID: PGS002174

Predicted Trait
Reported Trait Heel Broadband ultrasound attenuation, direct entry
Mapped Trait(s) heel bone mineral density (EFO_0009270)
Additional Trait Information physical measures
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-ldpred2_log_heel_BUA
Development Method
Name LDpred2 (bigsnpr)
Parameters LDpred2-auto using HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 732,595
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
PPM012240 PSS009221|
European Ancestry|
2,147 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Heel Broadband ultrasound attenuation, direct entry — — Partial Correlation (partial-r): 0.3925 [0.3559, 0.4278] sex, age, birth date, deprivation index, 16 PCs —
PPM012241 PSS008775|
European Ancestry|
3,463 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Heel Broadband ultrasound attenuation, direct entry — — Partial Correlation (partial-r): 0.3599 [0.3305, 0.3887] sex, age, birth date, deprivation index, 16 PCs —
PPM012242 PSS008549|
Greater Middle Eastern Ancestry|
505 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Heel Broadband ultrasound attenuation, direct entry — — Partial Correlation (partial-r): 0.3282 [0.2463, 0.4054] sex, age, birth date, deprivation index, 16 PCs —
PPM012243 PSS008327|
South Asian Ancestry|
1,968 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Heel Broadband ultrasound attenuation, direct entry — — Partial Correlation (partial-r): 0.3051 [0.2643, 0.3449] sex, age, birth date, deprivation index, 16 PCs —
PPM012244 PSS008104|
East Asian Ancestry|
819 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Heel Broadband ultrasound attenuation, direct entry — — Partial Correlation (partial-r): 0.2633 [0.1976, 0.3267] sex, age, birth date, deprivation index, 16 PCs —
PPM012245 PSS007891|
African Ancestry|
795 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Heel Broadband ultrasound attenuation, direct entry — — Partial Correlation (partial-r): 0.1219 [0.0519, 0.1907] sex, age, birth date, deprivation index, 16 PCs —
PPM012246 PSS008995|
African Ancestry|
1,404 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Heel Broadband ultrasound attenuation, direct entry — — Partial Correlation (partial-r): 0.1515 [0.0996, 0.2026] sex, age, birth date, deprivation index, 16 PCs —
PPM012239 PSS009447|
European Ancestry|
11,485 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Heel Broadband ultrasound attenuation, direct entry — — Partial Correlation (partial-r): 0.4168 [0.4015, 0.4318] sex, age, birth date, deprivation index, 16 PCs —
PPM039271 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.00853 — — — —

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
PSS009221 — — 2,147 individuals — European Poland (NE Europe) UKB —
PSS008549 — — 505 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008775 — — 3,463 individuals — European Italy (South Europe) UKB —
PSS008104 — — 819 individuals — East Asian China (East Asia) UKB —
PSS008327 — — 1,968 individuals — South Asian India (South Asia) UKB —
PSS009447 — — 11,485 individuals — European UK (+ Ireland) UKB —
PSS007891 — — 795 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
 — European
(British, Irish)		 — UKB —
PSS008995 — — 1,404 individuals — African unspecified Nigeria (West Africa) UKB —