PGS Publication: PGP000056

Publication Information (EuropePMC)
Title Prediction of Bone Mineral Density and Fragility Fracture by Genetic Profiling.
PubMed ID 27649491(Europe PMC)
doi 10.1002/jbmr.2998
Publication Date Oct. 26, 2016
Journal J Bone Miner Res
Author(s) Ho-Le TP, Center JR, Eisman JA, Nguyen HT, Nguyen TV.
Released in PGS Catalog: March 27, 2020

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

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 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 tissue density 62
-
 https://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 tissue density 33
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000122/ScoringFiles/PGS000122.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
PPM000372 PGS000122
(2018_BMD33_GRS.FN)
 PSS000215|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Vertebral fracture HR: 1.36 [1.04, 1.78] — — Age —
PPM000368 PGS000121
(2018_BMD62_GRS.FN)
 PSS000215|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Vertebral fracture HR: 1.25 [1.02, 1.56] — — Age —
PPM000380 PGS000122
(2018_BMD33_GRS.FN)
 PSS000216|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Wrist fracture HR: 1.62 [1.08, 2.43] — — Age —
PPM000376 PGS000121
(2018_BMD62_GRS.FN)
 PSS000216|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Wrist fracture HR: 1.48 [1.07, 2.06] — — Age —
PPM000377 PGS000121
(2018_BMD62_GRS.FN)
 PSS000216|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Wrist fracture HR: 1.5 [1.08, 2.09] — — Age, sex, prior fracture or fall —
PPM000378 PGS000121
(2018_BMD62_GRS.FN)
 PSS000216|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Wrist fracture HR: 1.41 [1.01, 1.96] — — Age, sex, prior fracture or fall, femoral neck bone mineral density —
PPM000374 PGS000122
(2018_BMD33_GRS.FN)
 PSS000215|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Vertebral fracture HR: 1.28 [0.97, 1.68] — — Age, sex, prior fracture or fall, femoral neck bone mineral density —
PPM000364 PGS000122
(2018_BMD33_GRS.FN)
 PSS000213|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Hip fracture HR: 1.11 [0.78, 1.57] — — Age —
PPM000360 PGS000121
(2018_BMD62_GRS.FN)
 PSS000213|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Hip fracture HR: 1.21 [0.91, 1.59] — — Age —
PPM000356 PGS000122
(2018_BMD33_GRS.FN)
 PSS000214|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Total fracture HR: 1.26 [1.06, 1.5] — — Age —
PPM000352 PGS000121
(2018_BMD62_GRS.FN)
 PSS000214|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Total fracture HR: 1.19 [1.03, 1.37] — — Age —
PPM000366 PGS000122
(2018_BMD33_GRS.FN)
 PSS000213|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Hip fracture HR: 1.01 [0.65, 1.35] — — Age, sex, prior fracture or fall, femoral neck bone mineral density —
PPM000362 PGS000121
(2018_BMD62_GRS.FN)
 PSS000213|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Hip fracture HR: 1.03 [0.77, 1.36] — — Age, sex, prior fracture or fall, femoral neck bone mineral density —
PPM000358 PGS000122
(2018_BMD33_GRS.FN)
 PSS000214|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Total fracture HR: 1.23 [1.02, 1.46] — — Age, sex, prior fracture or fall, femoral neck bone mineral density —
PPM000354 PGS000121
(2018_BMD62_GRS.FN)
 PSS000214|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Total fracture HR: 1.13 [0.98, 1.29] — — Age, sex, prior fracture or fall, femoral neck bone mineral density —
PPM000371 PGS000122
(2018_BMD33_GRS.FN)
 PSS000215|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Vertebral fracture HR: 1.39 [1.06, 1.82] — — — —
PPM000367 PGS000121
(2018_BMD62_GRS.FN)
 PSS000215|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Vertebral fracture HR: 1.28 [1.02, 1.59] — — — —
PPM000363 PGS000122
(2018_BMD33_GRS.FN)
 PSS000213|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Hip fracture HR: 1.09 [0.77, 1.54] — — — —
PPM000359 PGS000121
(2018_BMD62_GRS.FN)
 PSS000213|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Hip fracture HR: 1.23 [0.92, 1.63] — — — —
PPM000355 PGS000122
(2018_BMD33_GRS.FN)
 PSS000214|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Total fracture HR: 1.26 [1.06, 1.5] — — — —
PPM000351 PGS000121
(2018_BMD62_GRS.FN)
 PSS000214|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Total fracture HR: 1.2 [1.04, 1.38] — — — —
PPM000350 PGS000121
(2018_BMD62_GRS.FN)
 PSS000212|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Lumbar spine BMD β: -0.037 (0.007) — — — —
PPM000349 PGS000121
(2018_BMD62_GRS.FN)
 PSS000212|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Femoral neck BMD β: -0.019 (0.004) — — — —
PPM000379 PGS000122
(2018_BMD33_GRS.FN)
 PSS000216|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Wrist fracture HR: 1.65 [1.09, 2.48] — — — —
PPM000375 PGS000121
(2018_BMD62_GRS.FN)
 PSS000216|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Wrist fracture HR: 1.51 [1.08, 2.1] — — — —
PPM000381 PGS000122
(2018_BMD33_GRS.FN)
 PSS000216|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Wrist fracture HR: 1.6 [1.06, 2.4] — — Age, sex, prior fracture or fall —
PPM000373 PGS000122
(2018_BMD33_GRS.FN)
 PSS000215|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Vertebral fracture HR: 1.35 [1.03, 1.78] — — Age, sex, prior fracture or fall —
PPM000369 PGS000121
(2018_BMD62_GRS.FN)
 PSS000215|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Vertebral fracture HR: 1.24 [1.0, 1.54] — — Age, sex, prior fracture or fall —
PPM000365 PGS000122
(2018_BMD33_GRS.FN)
 PSS000213|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Hip fracture HR: 1.06 [0.74, 1.51] — — Age, sex, prior fracture or fall —
PPM000361 PGS000121
(2018_BMD62_GRS.FN)
 PSS000213|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Hip fracture HR: 1.19 [0.91, 1.57] — — Age, sex, prior fracture or fall —
PPM000357 PGS000122
(2018_BMD33_GRS.FN)
 PSS000214|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Total fracture HR: 1.24 [1.04, 1.47] — — Age, sex, prior fracture or fall —
PPM000353 PGS000121
(2018_BMD62_GRS.FN)
 PSS000214|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Total fracture HR: 1.18 [1.03, 1.36] — — Age, sex, prior fracture or fall —
PPM000382 PGS000122
(2018_BMD33_GRS.FN)
 PSS000216|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (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|
European Ancestry|
1,459 individuals
 PGP000056 |
Ho-Le TP et al. J Bone Miner Res (2016)
 Reported Trait: Vertebral fracture HR: 1.14 [0.92, 1.42] — — Age, sex, prior fracture or fall, femoral neck bone mineral density —

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
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 —