Polygenic Score (PGS) ID: PGS000122

Predicted Trait
Reported Trait Bone mineral density (BMD)
Mapped Trait(s) bone tissue density (OBA_1000110)
Additional Trait Information Femoral neck BMD (g/cm2)
Released in PGS Catalog: March 27, 2020
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name 2018_BMD33_GRS.FN
Development Method
Name Weighted sum of risk alleles (with random forest selection)
Parameters SNPs were selected using random forest analysis
Variants
Original Genome Build NCBI36
Number of Variants 33
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000056
Citation (link to publication) Ho-Le TP et al. J Bone Miner Res (2016)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
11,722 individuals (100%)
PGS Evaluation
European: 100%
4 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST000180
Europe PMC: 18445777
 5,861 individuals European NR
GWAS Catalog: GCST000181
Europe PMC: 18445777
 5,861 individuals European NR

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
PPM000372 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 —
PPM000380 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 —
PPM000374 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 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 —
PPM000356 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 —
PPM000366 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 —
PPM000358 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 —
PPM000371 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] — — — —
PPM000363 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] — — — —
PPM000355 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] — — — —
PPM000379 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] — — — —
PPM000381 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 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 —
PPM000365 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 —
PPM000357 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 —
PPM000382 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 —

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
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 —