Trait: metabolic bone disorder

Trait Information
Identifier MONDO_0800486
Description A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease. [NCIT: C97045]
Trait category
Other trait
Child trait(s) 2 child traits

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
Note: This table shows PGS for child terms of "metabolic bone disorder" in the EFO hierarchy.
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)
PGS001273
(GBE_HC22)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Osteoporosis osteoporosis 316
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001273/ScoringFiles/PGS001273.txt.gz
PGS001274
(GBE_HC1268)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Osteoporosis without pathological fracture (time-to-event) osteoporosis 1,270
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001274/ScoringFiles/PGS001274.txt.gz
PGS001883
(portability-PLR_743.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Osteoporosis osteoporosis 365
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001883/ScoringFiles/PGS001883.txt.gz
PGS002095
(portability-ldpred2_743.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Osteoporosis osteoporosis 658,775
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002095/ScoringFiles/PGS002095.txt.gz
PGS002768
(BMD_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Osteoporosis heel bone mineral density,
osteoporosis		 1,091,549
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002768/ScoringFiles/PGS002768.txt.gz
PGS004490
(disease.M81.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M81 (Osteoporosis without pathological fracture) osteoporosis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004490/ScoringFiles/PGS004490.txt.gz
PGS004495
(disease.osteoporosis.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Osteoporosis osteoporosis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004495/ScoringFiles/PGS004495.txt.gz
PGS004560
(meta.M81.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M81 (Osteoporosis without pathological fracture) osteoporosis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004560/ScoringFiles/PGS004560.txt.gz
PGS004565
(meta.osteoporosis.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Osteoporosis osteoporosis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004565/ScoringFiles/PGS004565.txt.gz
PGS004809
(osteoporosis_PRSmix_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Osteoporosis osteoporosis 863,731
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004809/ScoringFiles/PGS004809.txt.gz
PGS004810
(osteoporosis_PRSmixPlus_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Osteoporosis osteoporosis 1,876,917
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004810/ScoringFiles/PGS004810.txt.gz
PGS005146
(Osteoporosis (PRS-CS; EAS))
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Osteoporosis osteoporosis 908,465
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005146/ScoringFiles/PGS005146.txt.gz
PGS005155
(Osteoporosis (PRS-CSx; EAS+EUR))
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Osteoporosis osteoporosis 908,465
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005155/ScoringFiles/PGS005155.txt.gz
PGS018816
(TPMI_274_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 7,370
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018816/ScoringFiles/PGS018816.txt.gz
PGS018817
(TPMI_274_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 939,841
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018817/ScoringFiles/PGS018817.txt.gz
PGS018818
(TPMI_274_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 483,537
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018818/ScoringFiles/PGS018818.txt.gz
PGS018819
(TPMI_274_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 983,787
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018819/ScoringFiles/PGS018819.txt.gz
PGS018820
(TPMI_274_PRSmix+)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 1,071,466
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018820/ScoringFiles/PGS018820.txt.gz
PGS018821
(TPMI_274_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 898,949
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018821/ScoringFiles/PGS018821.txt.gz
PGS019722
(TPMI_743_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis osteopenia and pathological fracture osteoporosis,
bone fracture		 69,652
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019722/ScoringFiles/PGS019722.txt.gz
PGS019723
(TPMI_743_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis osteopenia and pathological fracture osteoporosis,
bone fracture		 365,313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019723/ScoringFiles/PGS019723.txt.gz
PGS019724
(TPMI_743_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis osteopenia and pathological fracture osteoporosis,
bone fracture		 16,942
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019724/ScoringFiles/PGS019724.txt.gz
PGS019725
(TPMI_743_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis osteopenia and pathological fracture osteoporosis,
bone fracture		 983,829
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019725/ScoringFiles/PGS019725.txt.gz
PGS019726
(TPMI_743_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis osteopenia and pathological fracture osteoporosis,
bone fracture		 957,929
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019726/ScoringFiles/PGS019726.txt.gz
PGS019727
(TPMI_743.11_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis NOS osteoporosis 419
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019727/ScoringFiles/PGS019727.txt.gz
PGS019728
(TPMI_743.11_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis NOS osteoporosis 317,022
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019728/ScoringFiles/PGS019728.txt.gz
PGS019729
(TPMI_743.11_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis NOS osteoporosis 27,110
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019729/ScoringFiles/PGS019729.txt.gz
PGS019730
(TPMI_743.11_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis NOS osteoporosis 983,826
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019730/ScoringFiles/PGS019730.txt.gz
PGS019731
(TPMI_743.11_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Osteoporosis NOS osteoporosis 989,191
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019731/ScoringFiles/PGS019731.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
PPM008863 PGS001273
(GBE_HC22)
 PSS004369|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Osteoporosis — AUROC: 0.75545 [0.70356, 0.80735] R²: 0.08703
Incremental AUROC (full-covars): -0.00106
PGS R2 (no covariates): 0.00045
PGS AUROC (no covariates): 0.51891 [0.45926, 0.57855]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008864 PGS001273
(GBE_HC22)
 PSS004370|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Osteoporosis — AUROC: 0.85769 [0.79768, 0.9177] R²: 0.20187
Incremental AUROC (full-covars): -0.00208
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.50947 [0.39122, 0.62773]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008865 PGS001273
(GBE_HC22)
 PSS004371|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Osteoporosis — AUROC: 0.78972 [0.77584, 0.8036] R²: 0.14567
Incremental AUROC (full-covars): 0.00477
PGS R2 (no covariates): 0.00688
PGS AUROC (no covariates): 0.5685 [0.55009, 0.58691]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008866 PGS001273
(GBE_HC22)
 PSS004372|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Osteoporosis — AUROC: 0.82202 [0.79395, 0.85009] R²: 0.17031
Incremental AUROC (full-covars): 0.00037
PGS R2 (no covariates): 5e-05
PGS AUROC (no covariates): 0.50461 [0.4652, 0.54402]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008867 PGS001273
(GBE_HC22)
 PSS004373|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Osteoporosis — AUROC: 0.7643 [0.75478, 0.77381] R²: 0.1146
Incremental AUROC (full-covars): 0.00589
PGS R2 (no covariates): 0.00698
PGS AUROC (no covariates): 0.5684 [0.55603, 0.58076]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008868 PGS001274
(GBE_HC1268)
 PSS004243|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE osteoporosis without pathological fracture — AUROC: 0.74925 [0.69511, 0.80339] R²: 0.08288
Incremental AUROC (full-covars): -0.00137
PGS R2 (no covariates): 0.00122
PGS AUROC (no covariates): 0.51972 [0.45381, 0.58563]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008869 PGS001274
(GBE_HC1268)
 PSS004244|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE osteoporosis without pathological fracture — AUROC: 0.81083 [0.73828, 0.88338] R²: 0.14813
Incremental AUROC (full-covars): -0.0044
PGS R2 (no covariates): 9e-05
PGS AUROC (no covariates): 0.50546 [0.40063, 0.61028]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008870 PGS001274
(GBE_HC1268)
 PSS004245|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE osteoporosis without pathological fracture — AUROC: 0.79652 [0.78363, 0.8094] R²: 0.15697
Incremental AUROC (full-covars): 0.00777
PGS R2 (no covariates): 0.00945
PGS AUROC (no covariates): 0.57595 [0.55816, 0.59374]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008871 PGS001274
(GBE_HC1268)
 PSS004246|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE osteoporosis without pathological fracture — AUROC: 0.81463 [0.78571, 0.84355] R²: 0.16403
Incremental AUROC (full-covars): -0.00198
PGS R2 (no covariates): 0.00037
PGS AUROC (no covariates): 0.51416 [0.47459, 0.55374]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008872 PGS001274
(GBE_HC1268)
 PSS004247|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE osteoporosis without pathological fracture — AUROC: 0.77492 [0.76604, 0.7838] R²: 0.12779
Incremental AUROC (full-covars): 0.00797
PGS R2 (no covariates): 0.0089
PGS AUROC (no covariates): 0.57419 [0.56237, 0.586]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009948 PGS001883
(portability-PLR_743.1)
 PSS009360|
European Ancestry|
19,982 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0308 [0.017, 0.0447] sex, age, birth date, deprivation index, 16 PCs —
PPM009949 PGS001883
(portability-PLR_743.1)
 PSS009134|
European Ancestry|
4,130 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): -0.0002 [-0.0308, 0.0303] sex, age, birth date, deprivation index, 16 PCs —
PPM009950 PGS001883
(portability-PLR_743.1)
 PSS008688|
European Ancestry|
6,657 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0348 [0.0108, 0.0588] sex, age, birth date, deprivation index, 16 PCs —
PPM009952 PGS001883
(portability-PLR_743.1)
 PSS008242|
South Asian Ancestry|
6,327 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): -0.0028 [-0.0274, 0.0219] sex, age, birth date, deprivation index, 16 PCs —
PPM009953 PGS001883
(portability-PLR_743.1)
 PSS008020|
East Asian Ancestry|
1,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0046 [-0.0418, 0.0509] sex, age, birth date, deprivation index, 16 PCs —
PPM009954 PGS001883
(portability-PLR_743.1)
 PSS007806|
African Ancestry|
2,483 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): -0.0024 [-0.0419, 0.0371] sex, age, birth date, deprivation index, 16 PCs —
PPM009955 PGS001883
(portability-PLR_743.1)
 PSS008910|
African Ancestry|
3,923 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0028 [-0.0286, 0.0342] sex, age, birth date, deprivation index, 16 PCs —
PPM009951 PGS001883
(portability-PLR_743.1)
 PSS008462|
Greater Middle Eastern Ancestry|
1,199 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0115 [-0.0456, 0.0686] sex, age, birth date, deprivation index, 16 PCs —
PPM011616 PGS002095
(portability-ldpred2_743.1)
 PSS009360|
European Ancestry|
19,982 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0268 [0.013, 0.0407] sex, age, birth date, deprivation index, 16 PCs —
PPM011617 PGS002095
(portability-ldpred2_743.1)
 PSS009134|
European Ancestry|
4,130 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0131 [-0.0174, 0.0437] sex, age, birth date, deprivation index, 16 PCs —
PPM011618 PGS002095
(portability-ldpred2_743.1)
 PSS008688|
European Ancestry|
6,657 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0248 sex, age, birth date, deprivation index, 16 PCs —
PPM011619 PGS002095
(portability-ldpred2_743.1)
 PSS008462|
Greater Middle Eastern Ancestry|
1,199 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0116 [-0.0455, 0.0687] sex, age, birth date, deprivation index, 16 PCs —
PPM011620 PGS002095
(portability-ldpred2_743.1)
 PSS008242|
South Asian Ancestry|
6,327 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): -0.0013 [-0.026, 0.0233] sex, age, birth date, deprivation index, 16 PCs —
PPM011621 PGS002095
(portability-ldpred2_743.1)
 PSS008020|
East Asian Ancestry|
1,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0077 [-0.0387, 0.054] sex, age, birth date, deprivation index, 16 PCs —
PPM011622 PGS002095
(portability-ldpred2_743.1)
 PSS007806|
African Ancestry|
2,483 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0261 [-0.0135, 0.0655] sex, age, birth date, deprivation index, 16 PCs —
PPM011623 PGS002095
(portability-ldpred2_743.1)
 PSS008910|
African Ancestry|
3,923 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis — — Partial Correlation (partial-r): 0.0012 [-0.0301, 0.0326] sex, age, birth date, deprivation index, 16 PCs —
PPM014968 PGS002768
(BMD_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis OR: 1.31 [1.25, 1.38] — — age, sex, 10 PCs, technical covariates —
PPM020605 PGS004490
(disease.M81.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M81 (Osteoporosis without pathological fracture) OR: 1.17552 — — — —
PPM020610 PGS004495
(disease.osteoporosis.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Osteoporosis OR: 1.19793 — — — —
PPM020675 PGS004560
(meta.M81.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M81 (Osteoporosis without pathological fracture) OR: 1.32082 — — — —
PPM020680 PGS004565
(meta.osteoporosis.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Osteoporosis OR: 1.32822 — — — —
PPM021034 PGS004809
(osteoporosis_PRSmix_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Osteoporosis — — Incremental R2 (Full model versus model with only covariates): 0.011 [0.007, 0.015] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM021035 PGS004810
(osteoporosis_PRSmixPlus_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Osteoporosis — — Incremental R2 (Full model versus model with only covariates): 0.022 [0.016, 0.028] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM022366 PGS005146
(Osteoporosis (PRS-CS; EAS))
 PSS011922|
East Asian Ancestry|
58,611 individuals
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Reported Trait: Osteoporosis β: 1.09366 — — age, sex —
PPM022375 PGS005155
(Osteoporosis (PRS-CSx; EAS+EUR))
 PSS011922|
East Asian Ancestry|
58,611 individuals
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Reported Trait: Osteoporosis β: 1.14434 — — age, sex —
PPM036998 PGS018816
(TPMI_274_Lassosum2)
 PSS012731|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.72592 R²: 0.15189 sex, age, array, PCs 1-10 —
PPM036999 PGS018817
(TPMI_274_LDpred2)
 PSS012730|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.72801 R²: 0.15577 sex, age, array, PCs 1-10 —
PPM037000 PGS018818
(TPMI_274_MegaPRS)
 PSS012732|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.71916 R²: 0.13938 sex, age, array, PCs 1-10 —
PPM037001 PGS018819
(TPMI_274_PRS-CS)
 PSS012733|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.72764 R²: 0.15465 sex, age, array, PCs 1-10 —
PPM037002 PGS018820
(TPMI_274_PRSmix+)
 PSS012734|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.73221 R²: 0.1608 sex, age, array, PCs 1-10 —
PPM037003 PGS018821
(TPMI_274_SBayesR)
 PSS012735|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.72428 R²: 0.14877 sex, age, array, PCs 1-10 —
PPM037904 PGS019722
(TPMI_743_Lassosum2)
 PSS013630|
East Asian Ancestry|
19,713 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis osteopenia and pathological fracture — AUROC: 0.70063 R²: 0.10592 sex, age, array, PCs 1-10 —
PPM037905 PGS019723
(TPMI_743_LDpred2)
 PSS013629|
East Asian Ancestry|
19,713 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis osteopenia and pathological fracture — AUROC: 0.70305 R²: 0.10869 sex, age, array, PCs 1-10 —
PPM037906 PGS019724
(TPMI_743_MegaPRS)
 PSS013631|
East Asian Ancestry|
19,713 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis osteopenia and pathological fracture — AUROC: 0.70086 R²: 0.10624 sex, age, array, PCs 1-10 —
PPM037907 PGS019725
(TPMI_743_PRS-CS)
 PSS013632|
East Asian Ancestry|
19,713 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis osteopenia and pathological fracture — AUROC: 0.70309 R²: 0.10872 sex, age, array, PCs 1-10 —
PPM037908 PGS019726
(TPMI_743_SBayesR)
 PSS013633|
East Asian Ancestry|
19,713 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis osteopenia and pathological fracture — AUROC: 0.70126 R²: 0.1063 sex, age, array, PCs 1-10 —
PPM037909 PGS019727
(TPMI_743.11_Lassosum2)
 PSS013625|
East Asian Ancestry|
19,445 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis NOS — AUROC: 0.72863 R²: 0.1006 sex, age, array, PCs 1-10 —
PPM037910 PGS019728
(TPMI_743.11_LDpred2)
 PSS013624|
East Asian Ancestry|
19,445 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis NOS — AUROC: 0.73207 R²: 0.10412 sex, age, array, PCs 1-10 —
PPM037911 PGS019729
(TPMI_743.11_MegaPRS)
 PSS013626|
East Asian Ancestry|
19,445 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis NOS — AUROC: 0.73031 R²: 0.10228 sex, age, array, PCs 1-10 —
PPM037912 PGS019730
(TPMI_743.11_PRS-CS)
 PSS013627|
East Asian Ancestry|
19,445 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis NOS — AUROC: 0.73127 R²: 0.10329 sex, age, array, PCs 1-10 —
PPM037913 PGS019731
(TPMI_743.11_SBayesR)
 PSS013628|
East Asian Ancestry|
19,445 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Osteoporosis NOS — AUROC: 0.7314 R²: 0.1032 sex, age, array, PCs 1-10 —

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
PSS008910 — — 3,923 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008020 — — 1,808 individuals — East Asian China (East Asia) UKB —
PSS011465 — — 9,462 individuals — European — AllofUs —
PSS008688 — — 6,657 individuals — European Italy (South Europe) UKB —
PSS007806 — — 2,483 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013624 733.00,M81 —
[
  • 813 cases
  • , 18,632 controls
]
,
46.43 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013625 733.00,M81 —
[
  • 813 cases
  • , 18,632 controls
]
,
46.43 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012730 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012731 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012732 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012733 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012734 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012735 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013630 733, V13.51, V13.52, V54.2,M48.4, M48.5, M80.0, M80.8, M81, M84.3, M84.4, M84.5, M84.6, M84.7, M85.9, M89.9, Z87.310, Z87.311, Z87.312 —
[
  • 1,081 cases
  • , 18,632 controls
]
,
46.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013629 733, V13.51, V13.52, V54.2,M48.4, M48.5, M80.0, M80.8, M81, M84.3, M84.4, M84.5, M84.6, M84.7, M85.9, M89.9, Z87.310, Z87.311, Z87.312 —
[
  • 1,081 cases
  • , 18,632 controls
]
,
46.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013631 733, V13.51, V13.52, V54.2,M48.4, M48.5, M80.0, M80.8, M81, M84.3, M84.4, M84.5, M84.6, M84.7, M85.9, M89.9, Z87.310, Z87.311, Z87.312 —
[
  • 1,081 cases
  • , 18,632 controls
]
,
46.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013632 733, V13.51, V13.52, V54.2,M48.4, M48.5, M80.0, M80.8, M81, M84.3, M84.4, M84.5, M84.6, M84.7, M85.9, M89.9, Z87.310, Z87.311, Z87.312 —
[
  • 1,081 cases
  • , 18,632 controls
]
,
46.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013633 733, V13.51, V13.52, V54.2,M48.4, M48.5, M80.0, M80.8, M81, M84.3, M84.4, M84.5, M84.6, M84.7, M85.9, M89.9, Z87.310, Z87.311, Z87.312 —
[
  • 1,081 cases
  • , 18,632 controls
]
,
46.23 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013628 733.00,M81 —
[
  • 813 cases
  • , 18,632 controls
]
,
46.43 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008462 — — 1,199 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009360 — — 19,982 individuals — European UK (+ Ireland) UKB —
PSS004369 — —
[
  • 92 cases
  • , 6,405 controls
]
 — African unspecified — UKB —
PSS004370 — —
[
  • 24 cases
  • , 1,680 controls
]
 — East Asian — UKB —
PSS004371 — —
[
  • 932 cases
  • , 23,973 controls
]
 — European non-white British ancestry UKB —
PSS004372 — —
[
  • 195 cases
  • , 7,636 controls
]
 — South Asian — UKB —
PSS004245 — —
[
  • 1,020 cases
  • , 23,885 controls
]
 — European non-white British ancestry UKB —
PSS004246 — —
[
  • 205 cases
  • , 7,626 controls
]
 — South Asian — UKB —
PSS004247 — —
[
  • 2,326 cases
  • , 65,099 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004373 — —
[
  • 2,151 cases
  • , 65,274 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004243 — —
[
  • 85 cases
  • , 6,412 controls
]
 — African unspecified — UKB —
PSS004244 — —
[
  • 30 cases
  • , 1,674 controls
]
 — East Asian — UKB —
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —
PSS011364 — — 56,192 individuals — European — UKB —
PSS013626 733.00,M81 —
[
  • 813 cases
  • , 18,632 controls
]
,
46.43 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009134 — — 4,130 individuals — European Poland (NE Europe) UKB —
PSS013627 733.00,M81 —
[
  • 813 cases
  • , 18,632 controls
]
,
46.43 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008242 — — 6,327 individuals — South Asian India (South Asia) UKB —
PSS011922 — —
[
  • 3,074 cases
  • , 55,537 controls
]
 — East Asian
(Korean)		 — HEXA —