Trait: bone density

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003923
Description
  • The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.
Trait category
Other measurement
Synonyms 8 synonyms
  • BMD
  • Bone Densities
  • Bone Mineral Densities
  • Bone Mineral Density
  • Density, Bone
  • Density, Bone Mineral
  • aBMD
  • areal bone mineral density
Mapped term(s) 3 mapped terms
  • ICD10:M85
  • MSH:D015519
  • NCIt:C96950

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000121 2018_BMD62_GRS.FN PGP000056 Ho-Le TP et al. J Bone Miner Res (2016) Bone mineral density (BMD) bone density 62 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000121/ScoringFiles/PGS000121.txt.gz
PGS000122 2018_BMD33_GRS.FN PGP000056 Ho-Le TP et al. J Bone Miner Res (2016) Bone mineral density (BMD) bone density 33 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000122/ScoringFiles/PGS000122.txt.gz

PGS 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)
Evaluated Score 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
PPM000349 PGS000121
(2018_BMD62_GRS.FN)
PSS000212 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Femoral neck BMD β: -0.019 (0.004)
PPM000361 PGS000121
(2018_BMD62_GRS.FN)
PSS000213 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Hip fracture HR: 1.19 [0.91, 1.57] Age, sex, prior fracture or fall
PPM000360 PGS000121
(2018_BMD62_GRS.FN)
PSS000213 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Hip fracture HR: 1.21 [0.91, 1.59] Age
PPM000358 PGS000122
(2018_BMD33_GRS.FN)
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
PPM000366 PGS000122
(2018_BMD33_GRS.FN)
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
PPM000381 PGS000122
(2018_BMD33_GRS.FN)
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 PGS000122
(2018_BMD33_GRS.FN)
PSS000216 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Wrist fracture HR: 1.62 [1.08, 2.43] Age
PPM000378 PGS000121
(2018_BMD62_GRS.FN)
PSS000216 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Wrist fracture HR: 1.41 [1.01, 1.96] Age, sex, prior fracture or fall, femoral neck bone mineral density
PPM000377 PGS000121
(2018_BMD62_GRS.FN)
PSS000216 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Wrist fracture HR: 1.5 [1.08, 2.09] Age, sex, prior fracture or fall
PPM000376 PGS000121
(2018_BMD62_GRS.FN)
PSS000216 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Wrist fracture HR: 1.48 [1.07, 2.06] Age
PPM000374 PGS000122
(2018_BMD33_GRS.FN)
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 PGS000122
(2018_BMD33_GRS.FN)
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
PPM000365 PGS000122
(2018_BMD33_GRS.FN)
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 PGS000122
(2018_BMD33_GRS.FN)
PSS000213 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Hip fracture HR: 1.11 [0.78, 1.57] Age
PPM000382 PGS000122
(2018_BMD33_GRS.FN)
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
PPM000370 PGS000121
(2018_BMD62_GRS.FN)
PSS000215 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Vertebral fracture HR: 1.14 [0.92, 1.42] Age, sex, prior fracture or fall, femoral neck bone mineral density
PPM000362 PGS000121
(2018_BMD62_GRS.FN)
PSS000213 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Hip fracture HR: 1.03 [0.77, 1.36] Age, sex, prior fracture or fall, femoral neck bone mineral density
PPM000372 PGS000122
(2018_BMD33_GRS.FN)
PSS000215 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Vertebral fracture HR: 1.36 [1.04, 1.78] Age
PPM000369 PGS000121
(2018_BMD62_GRS.FN)
PSS000215 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Vertebral fracture HR: 1.24 [1.0, 1.54] Age, sex, prior fracture or fall
PPM000368 PGS000121
(2018_BMD62_GRS.FN)
PSS000215 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Vertebral fracture HR: 1.25 [1.02, 1.56] Age
PPM000357 PGS000122
(2018_BMD33_GRS.FN)
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 PGS000122
(2018_BMD33_GRS.FN)
PSS000214 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Total fracture HR: 1.26 [1.06, 1.5] Age
PPM000354 PGS000121
(2018_BMD62_GRS.FN)
PSS000214 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Total fracture HR: 1.13 [0.98, 1.29] Age, sex, prior fracture or fall, femoral neck bone mineral density
PPM000353 PGS000121
(2018_BMD62_GRS.FN)
PSS000214 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Total fracture HR: 1.18 [1.03, 1.36] Age, sex, prior fracture or fall
PPM000352 PGS000121
(2018_BMD62_GRS.FN)
PSS000214 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Total fracture HR: 1.19 [1.03, 1.37] Age
PPM000350 PGS000121
(2018_BMD62_GRS.FN)
PSS000212 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Lumbar spine BMD β: -0.037 (0.007)
PPM000371 PGS000122
(2018_BMD33_GRS.FN)
PSS000215 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Vertebral fracture HR: 1.39 [1.06, 1.82]
PPM000367 PGS000121
(2018_BMD62_GRS.FN)
PSS000215 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Vertebral fracture HR: 1.28 [1.02, 1.59]
PPM000363 PGS000122
(2018_BMD33_GRS.FN)
PSS000213 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Hip fracture HR: 1.09 [0.77, 1.54]
PPM000359 PGS000121
(2018_BMD62_GRS.FN)
PSS000213 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Hip fracture HR: 1.23 [0.92, 1.63]
PPM000355 PGS000122
(2018_BMD33_GRS.FN)
PSS000214 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Total fracture HR: 1.26 [1.06, 1.5]
PPM000351 PGS000121
(2018_BMD62_GRS.FN)
PSS000214 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Total fracture HR: 1.2 [1.04, 1.38]
PPM000379 PGS000122
(2018_BMD33_GRS.FN)
PSS000216 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Wrist fracture HR: 1.65 [1.09, 2.48]
PPM000375 PGS000121
(2018_BMD62_GRS.FN)
PSS000216 PGP000056 Ho-Le TP et al. (2016) Reported Trait: Wrist fracture HR: 1.51 [1.08, 2.1]

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000212 902 individuals,
0.0 % Male samples
Mean = 70.1 years
Sd = 7.0 years
European DOES
PSS000212 557 individuals,
100.0 % Male samples
Mean = 69.5 years
Sd = 5.9 years
European DOES
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