Trait: heel bone mineral density

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009270
Description Quantification of the mineral density of the heel bone
Trait category
Other measurement
Mapped term PMID:28869591

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS001037
(GBE_INI78)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Heel bone mineral density (BMD) T-score, automated heel bone mineral density 14,310
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001037/ScoringFiles/PGS001037.txt.gz
PGS001038
(GBE_INI4106)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Left heel bone mineral density (BMD) T-score, automated heel bone mineral density 9,275
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001038/ScoringFiles/PGS001038.txt.gz
PGS001039
(GBE_INI4125)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Right heel bone mineral density (BMD) T-score, automated heel bone mineral density 9,753
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001039/ScoringFiles/PGS001039.txt.gz
PGS001402
(GBE_INI3148)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Heel bone mineral density (BMD) heel bone mineral density 14,251
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001402/ScoringFiles/PGS001402.txt.gz
PGS001403
(GBE_INI4105)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Heel bone mineral density (BMD) (L) heel bone mineral density 8,285
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001403/ScoringFiles/PGS001403.txt.gz
PGS001404
(GBE_INI4124)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Heel bone mineral density (BMD) (R) heel bone mineral density 9,637
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001404/ScoringFiles/PGS001404.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
PPM007943 PGS001037
(GBE_INI78)
PSS007476|
African Ancestry|
2,253 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated : 0.0346 [0.02587, 0.04333]
Incremental R2 (full-covars): 0.01755
PGS R2 (no covariates): 0.01827 [0.01182, 0.02472]
age, sex, UKB array type, Genotype PCs
PPM007944 PGS001037
(GBE_INI78)
PSS007477|
East Asian Ancestry|
795 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated : 0.09833 [0.07154, 0.12513]
Incremental R2 (full-covars): 0.06623
PGS R2 (no covariates): 0.06929 [0.04608, 0.09251]
age, sex, UKB array type, Genotype PCs
PPM007945 PGS001037
(GBE_INI78)
PSS007478|
European Ancestry|
12,376 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated : 0.1881 [0.17936, 0.19685]
Incremental R2 (full-covars): 0.13506
PGS R2 (no covariates): 0.13678 [0.12885, 0.14471]
age, sex, UKB array type, Genotype PCs
PPM007946 PGS001037
(GBE_INI78)
PSS007479|
South Asian Ancestry|
2,312 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated : 0.10193 [0.08923, 0.11462]
Incremental R2 (full-covars): 0.06757
PGS R2 (no covariates): 0.07119 [0.06021, 0.08216]
age, sex, UKB array type, Genotype PCs
PPM007947 PGS001037
(GBE_INI78)
PSS007480|
European Ancestry|
38,834 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated : 0.19661 [0.19123, 0.20198]
Incremental R2 (full-covars): 0.1419
PGS R2 (no covariates): 0.14159 [0.13671, 0.14646]
age, sex, UKB array type, Genotype PCs
PPM007948 PGS001038
(GBE_INI4106)
PSS007296|
African Ancestry|
3,560 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (L) : 0.02571 [0.01812, 0.03331]
Incremental R2 (full-covars): 0.00529
PGS R2 (no covariates): 0.00688 [0.00288, 0.01089]
age, sex, UKB array type, Genotype PCs
PPM007949 PGS001038
(GBE_INI4106)
PSS007297|
East Asian Ancestry|
781 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (L) : 0.10298 [0.0757, 0.13026]
Incremental R2 (full-covars): 0.08297
PGS R2 (no covariates): 0.082 [0.05709, 0.10691]
age, sex, UKB array type, Genotype PCs
PPM007950 PGS001038
(GBE_INI4106)
PSS007298|
European Ancestry|
10,636 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (L) : 0.17491 [0.16634, 0.18348]
Incremental R2 (full-covars): 0.11202
PGS R2 (no covariates): 0.11274 [0.10534, 0.12014]
age, sex, UKB array type, Genotype PCs
PPM007951 PGS001038
(GBE_INI4106)
PSS007299|
South Asian Ancestry|
5,043 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (L) : 0.08123 [0.06963, 0.09282]
Incremental R2 (full-covars): 0.05296
PGS R2 (no covariates): 0.05415 [0.04441, 0.0639]
age, sex, UKB array type, Genotype PCs
PPM007952 PGS001038
(GBE_INI4106)
PSS007300|
European Ancestry|
25,716 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (L) : 0.17984 [0.17459, 0.18509]
Incremental R2 (full-covars): 0.11708
PGS R2 (no covariates): 0.11589 [0.11134, 0.12043]
age, sex, UKB array type, Genotype PCs
PPM007953 PGS001039
(GBE_INI4125)
PSS007326|
African Ancestry|
3,592 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R) : 0.02463 [0.01719, 0.03207]
Incremental R2 (full-covars): 0.00616
PGS R2 (no covariates): 0.00698 [0.00294, 0.01101]
age, sex, UKB array type, Genotype PCs
PPM007954 PGS001039
(GBE_INI4125)
PSS007327|
East Asian Ancestry|
782 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R) : 0.09885 [0.072, 0.1257]
Incremental R2 (full-covars): 0.07541
PGS R2 (no covariates): 0.07555 [0.05147, 0.09963]
age, sex, UKB array type, Genotype PCs
PPM007955 PGS001039
(GBE_INI4125)
PSS007328|
European Ancestry|
10,633 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R) : 0.1752 [0.16663, 0.18378]
Incremental R2 (full-covars): 0.11145
PGS R2 (no covariates): 0.11271 [0.10531, 0.12011]
age, sex, UKB array type, Genotype PCs
PPM007956 PGS001039
(GBE_INI4125)
PSS007329|
South Asian Ancestry|
5,041 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R) : 0.08262 [0.07095, 0.0943]
Incremental R2 (full-covars): 0.05817
PGS R2 (no covariates): 0.05815 [0.0481, 0.06821]
age, sex, UKB array type, Genotype PCs
PPM007957 PGS001039
(GBE_INI4125)
PSS007330|
European Ancestry|
25,728 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) T-score, automated (R) : 0.19359 [0.18823, 0.19894]
Incremental R2 (full-covars): 0.1242
PGS R2 (no covariates): 0.12266 [0.11802, 0.1273]
age, sex, UKB array type, Genotype PCs
PPM007080 PGS001402
(GBE_INI3148)
PSS007241|
African Ancestry|
2,248 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) : 0.03461 [0.02588, 0.04334]
Incremental R2 (full-covars): 0.01792
PGS R2 (no covariates): 0.01849 [0.012, 0.02498]
age, sex, UKB array type, Genotype PCs
PPM007081 PGS001402
(GBE_INI3148)
PSS007242|
East Asian Ancestry|
794 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) : 0.0956 [0.0691, 0.1221]
Incremental R2 (full-covars): 0.06421
PGS R2 (no covariates): 0.06783 [0.04482, 0.09083]
age, sex, UKB array type, Genotype PCs
PPM007082 PGS001402
(GBE_INI3148)
PSS007243|
European Ancestry|
12,374 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) : 0.18897 [0.18022, 0.19773]
Incremental R2 (full-covars): 0.13548
PGS R2 (no covariates): 0.13714 [0.1292, 0.14508]
age, sex, UKB array type, Genotype PCs
PPM007083 PGS001402
(GBE_INI3148)
PSS007244|
South Asian Ancestry|
2,310 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) : 0.10415 [0.09135, 0.11695]
Incremental R2 (full-covars): 0.06926
PGS R2 (no covariates): 0.07321 [0.06211, 0.08432]
age, sex, UKB array type, Genotype PCs
PPM007084 PGS001402
(GBE_INI3148)
PSS007245|
European Ancestry|
38,814 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) : 0.19926 [0.19386, 0.20465]
Incremental R2 (full-covars): 0.14341
PGS R2 (no covariates): 0.14309 [0.1382, 0.14798]
age, sex, UKB array type, Genotype PCs
PPM007100 PGS001403
(GBE_INI4105)
PSS007291|
African Ancestry|
3,558 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (L) : 0.02599 [0.01836, 0.03363]
Incremental R2 (full-covars): 0.00518
PGS R2 (no covariates): 0.00667 [0.00273, 0.01062]
age, sex, UKB array type, Genotype PCs
PPM007101 PGS001403
(GBE_INI4105)
PSS007292|
East Asian Ancestry|
781 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (L) : 0.10653 [0.07889, 0.13417]
Incremental R2 (full-covars): 0.08652
PGS R2 (no covariates): 0.08516 [0.05986, 0.11046]
age, sex, UKB array type, Genotype PCs
PPM007102 PGS001403
(GBE_INI4105)
PSS007293|
European Ancestry|
10,626 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (L) : 0.17743 [0.16883, 0.18604]
Incremental R2 (full-covars): 0.11194
PGS R2 (no covariates): 0.11269 [0.10529, 0.12009]
age, sex, UKB array type, Genotype PCs
PPM007103 PGS001403
(GBE_INI4105)
PSS007294|
South Asian Ancestry|
5,037 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (L) : 0.08239 [0.07073, 0.09405]
Incremental R2 (full-covars): 0.05357
PGS R2 (no covariates): 0.05487 [0.04506, 0.06467]
age, sex, UKB array type, Genotype PCs
PPM007104 PGS001403
(GBE_INI4105)
PSS007295|
European Ancestry|
25,706 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (L) : 0.18131 [0.17605, 0.18657]
Incremental R2 (full-covars): 0.11744
PGS R2 (no covariates): 0.11656 [0.11201, 0.12112]
age, sex, UKB array type, Genotype PCs
PPM007110 PGS001404
(GBE_INI4124)
PSS007321|
African Ancestry|
3,586 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (R) : 0.02449 [0.01707, 0.03191]
Incremental R2 (full-covars): 0.00554
PGS R2 (no covariates): 0.00662 [0.00269, 0.01055]
age, sex, UKB array type, Genotype PCs
PPM007111 PGS001404
(GBE_INI4124)
PSS007322|
East Asian Ancestry|
782 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (R) : 0.09993 [0.07297, 0.12689]
Incremental R2 (full-covars): 0.0765
PGS R2 (no covariates): 0.0766 [0.05238, 0.10082]
age, sex, UKB array type, Genotype PCs
PPM007112 PGS001404
(GBE_INI4124)
PSS007323|
European Ancestry|
10,627 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (R) : 0.17605 [0.16746, 0.18463]
Incremental R2 (full-covars): 0.11134
PGS R2 (no covariates): 0.11225 [0.10487, 0.11964]
age, sex, UKB array type, Genotype PCs
PPM007113 PGS001404
(GBE_INI4124)
PSS007324|
South Asian Ancestry|
5,032 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (R) : 0.08461 [0.07282, 0.0964]
Incremental R2 (full-covars): 0.05881
PGS R2 (no covariates): 0.05872 [0.04862, 0.06882]
age, sex, UKB array type, Genotype PCs
PPM007114 PGS001404
(GBE_INI4124)
PSS007325|
European Ancestry|
25,715 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Heel bone mineral density (BMD) (R) : 0.196 [0.19063, 0.20138]
Incremental R2 (full-covars): 0.12507
PGS R2 (no covariates): 0.12352 [0.11887, 0.12817]
age, sex, UKB array type, Genotype PCs

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
PSS007241 2,248 individuals African unspecified UKB
PSS007242 794 individuals East Asian UKB
PSS007243 12,374 individuals European non-white British ancestry UKB
PSS007244 2,310 individuals South Asian UKB
PSS007245 38,814 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS007291 3,558 individuals African unspecified UKB
PSS007292 781 individuals East Asian UKB
PSS007293 10,626 individuals European non-white British ancestry UKB
PSS007294 5,037 individuals South Asian UKB
PSS007295 25,706 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS007296 3,560 individuals African unspecified UKB
PSS007297 781 individuals East Asian UKB
PSS007298 10,636 individuals European non-white British ancestry UKB
PSS007299 5,043 individuals South Asian UKB
PSS007300 25,716 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS007321 3,586 individuals African unspecified UKB
PSS007322 782 individuals East Asian UKB
PSS007323 10,627 individuals European non-white British ancestry UKB
PSS007324 5,032 individuals South Asian UKB
PSS007325 25,715 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS007326 3,592 individuals African unspecified UKB
PSS007327 782 individuals East Asian UKB
PSS007328 10,633 individuals European non-white British ancestry UKB
PSS007329 5,041 individuals South Asian UKB
PSS007330 25,728 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS007476 2,253 individuals African unspecified UKB
PSS007477 795 individuals East Asian UKB
PSS007478 12,376 individuals European non-white British ancestry UKB
PSS007479 2,312 individuals South Asian UKB
PSS007480 38,834 individuals European white British ancestry UKB Testing cohort (heldout set)