Polygenic Score (PGS) ID: PGS000122

Predicted Trait
Reported Trait Bone mineral density (BMD)
Mapped Trait(s) bone density (EFO_0003923)
Additional Trait Information Femoral neck BMD (g/cm2)
Released in PGS: March 27, 2020

Score Details

Score Construction
PGS Name 2018_BMD33_GRS.FN
Variants
Original Genome Build NCBI36
Number of Variants 33
Development Method
Name Weighted sum of risk alleles (with random forest selection)
Parameters SNPs were selected using random forest analysis
PGS Source
PGS Catalog Publication (PGP) ID PGP000056
Citation (link to publication) Ho-Le TP et al. J Bone Miner Res (2016)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST000181
EuropePMC: 18445777
5,861 individuals European
GWAS Catalog: GCST000180
EuropePMC: 18445777
5,861 individuals European

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 ID)
PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000372 PSS000215 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Vertebral fracture HR: 1.36[1.04, 1.78] Age
PPM000371 PSS000215 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Vertebral fracture HR: 1.39[1.06, 1.82]
PPM000366 PSS000213 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Hip fracture HR: 1.01[0.65, 1.35] Age, sex, prior fracture or fall, femoral neck bone mineral density
PPM000365 PSS000213 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Hip fracture HR: 1.06[0.74, 1.51] Age, sex, prior fracture or fall
PPM000364 PSS000213 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Hip fracture HR: 1.11[0.78, 1.57] Age
PPM000363 PSS000213 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Hip fracture HR: 1.09[0.77, 1.54]
PPM000358 PSS000214 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Total fracture HR: 1.23[1.02, 1.46] Age, sex, prior fracture or fall, femoral neck bone mineral density
PPM000357 PSS000214 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Total fracture HR: 1.24[1.04, 1.47] Age, sex, prior fracture or fall
PPM000356 PSS000214 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Total fracture HR: 1.26[1.06, 1.5] Age
PPM000355 PSS000214 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Total fracture HR: 1.26[1.06, 1.5]
PPM000381 PSS000216 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Wrist fracture HR: 1.6[1.06, 2.4] Age, sex, prior fracture or fall
PPM000380 PSS000216 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Wrist fracture HR: 1.62[1.08, 2.43] Age
PPM000379 PSS000216 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Wrist fracture HR: 1.65[1.09, 2.48]
PPM000374 PSS000215 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Vertebral fracture HR: 1.28[0.97, 1.68] Age, sex, prior fracture or fall, femoral neck bone mineral density
PPM000373 PSS000215 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Vertebral fracture HR: 1.35[1.03, 1.78] Age, sex, prior fracture or fall
PPM000382 PSS000216 PGP000056
Ho-Le TP et al. (2016)
Reported Trait: Wrist fracture HR: 1.53[1.01, 2.31] Age, sex, prior fracture or fall, femoral neck bone mineral density

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000213
[
  • 95 cases
  • , 807 controls
]
,
0.0 % Male samples
Mean = 70.1 years
Sd = 7.0 years
European DOES
PSS000213
[
  • 135 cases
  • , 422 controls
]
,
100.0 % Male samples
Mean = 69.5 years
Sd = 5.9 years
European DOES
PSS000214
[
  • 395 cases
  • , 507 controls
]
,
0.0 % Male samples
Mean = 70.1 years
Sd = 7.0 years
European DOES
PSS000214
[
  • 135 cases
  • , 422 controls
]
,
100.0 % Male samples
Mean = 69.5 years
Sd = 5.9 years
European DOES
PSS000215
[
  • 166 cases
  • , 736 controls
]
,
0.0 % Male samples
Mean = 70.1 years
Sd = 7.0 years
European DOES
PSS000215
[
  • 53 cases
  • , 504 controls
]
,
100.0 % Male samples
Mean = 69.5 years
Sd = 5.9 years
European DOES
PSS000216
[
  • 103 cases
  • , 799 controls
]
,
0.0 % Male samples
Mean = 70.1 years
Sd = 7.0 years
European DOES
PSS000216
[
  • 9 cases
  • , 548 controls
]
,
100.0 % Male samples
Mean = 69.5 years
Sd = 5.9 years
European DOES