Trait: osteoarthritis

Trait Information
Identifier MONDO_0005178
Description A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. [NCIT: C3293]
Trait category
Other disease
Synonyms 5 synonyms
  • degenerative arthritis
  • degenerative joint disease
  • hypertrophic arthritis
  • osteoarthrosis
  • osteoarthrosis and allied disorder
Mapped terms 9 mapped terms
  • DOID:8398
  • HP:0002758
  • ICD10CM:M15-M19
  • ICD10CM:M19
  • ICD9:715.3
  • MESH:D010003
  • NCIT:C3293
  • SCTID:396275006
  • UMLS:C0029408
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 all PGS for "osteoarthritis" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS000967
(GBE_HC1221)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Coxarthrosis [arthrosis of hip] (time-to-event) osteoarthritis, hip 634
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000967/ScoringFiles/PGS000967.txt.gz
PGS001192
(GBE_HC1222)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Gonarthrosis [arthrosis of knee] (time-to-event) osteoarthritis, knee 4,525
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001192/ScoringFiles/PGS001192.txt.gz
PGS001290
(GBE_HC376)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Osteoarthritis osteoarthritis 579
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001290/ScoringFiles/PGS001290.txt.gz
PGS001882
(portability-PLR_740)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Osteoarthrosis osteoarthritis 11,451
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001882/ScoringFiles/PGS001882.txt.gz
PGS002094
(portability-ldpred2_740)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Osteoarthrosis osteoarthritis 827,887
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002094/ScoringFiles/PGS002094.txt.gz
PGS002728
(PRS_hip)
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Hip osteoarthritis osteoarthritis, hip 44
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002728/ScoringFiles/PGS002728.txt.gz
PGS002729
(PRS_knee)
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Knee osteoarthritis osteoarthritis, knee 24
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002729/ScoringFiles/PGS002729.txt.gz
PGS002749
(PRS10_TKR)
PGP000362 |
Lacaze P et al. Arthritis Rheumatol (2022)
Total knee replacement osteoarthritis, knee,
total knee arthroplasty
10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002749/ScoringFiles/PGS002749.txt.gz
PGS002750
(PRS37_THR)
PGP000362 |
Lacaze P et al. Arthritis Rheumatol (2022)
Total hip replacement total hip arthroplasty,
osteoarthritis, hip
37
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002750/ScoringFiles/PGS002750.txt.gz
PGS002763
(Hip_osteoarthritis_prscs)
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Hip osteoarthritis osteoarthritis, hip 1,052,273
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002763/ScoringFiles/PGS002763.txt.gz
PGS002767
(Knee_osteoarthritis_prscs)
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Knee osteoarthritis osteoarthritis, knee 1,052,275
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002767/ScoringFiles/PGS002767.txt.gz
PGS004478
(disease.M16.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
M16 (Coxarthrosis [arthrosis of hip]) osteoarthritis, hip 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004478/ScoringFiles/PGS004478.txt.gz
PGS004479
(disease.M17.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
M17 (Gonarthrosis [arthrosis of knee]) osteoarthritis, knee 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004479/ScoringFiles/PGS004479.txt.gz
PGS004548
(meta.M16.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
M16 (Coxarthrosis [arthrosis of hip]) osteoarthritis, hip 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004548/ScoringFiles/PGS004548.txt.gz
PGS004549
(meta.M17.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
M17 (Gonarthrosis [arthrosis of knee]) osteoarthritis, knee 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004549/ScoringFiles/PGS004549.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
PPM007658 PGS000967
(GBE_HC1221)
PSS004208|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.63448 [0.57611, 0.69284] : 0.02258
Incremental AUROC (full-covars): 0.01789
PGS R2 (no covariates): 0.0065
PGS AUROC (no covariates): 0.57452 [0.51022, 0.63883]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007659 PGS000967
(GBE_HC1221)
PSS004209|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.67991 [0.52221, 0.83761] : 0.03974
Incremental AUROC (full-covars): 0.00141
PGS R2 (no covariates): 0.00044
PGS AUROC (no covariates): 0.52299 [0.39821, 0.64778]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007660 PGS000967
(GBE_HC1221)
PSS004210|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.71352 [0.69682, 0.73022] : 0.07227
Incremental AUROC (full-covars): 0.00368
PGS R2 (no covariates): 0.00258
PGS AUROC (no covariates): 0.54164 [0.52116, 0.56213]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007661 PGS000967
(GBE_HC1221)
PSS004211|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.72467 [0.66733, 0.78201] : 0.06598
Incremental AUROC (full-covars): -0.00237
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.50363 [0.44232, 0.56493]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007662 PGS000967
(GBE_HC1221)
PSS004212|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.69051 [0.68108, 0.69995] : 0.06247
Incremental AUROC (full-covars): 0.00918
PGS R2 (no covariates): 0.00628
PGS AUROC (no covariates): 0.5611 [0.55051, 0.57168]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008609 PGS001192
(GBE_HC1222)
PSS004213|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.68497 [0.65949, 0.71044] : 0.07256
Incremental AUROC (full-covars): -0.01106
PGS R2 (no covariates): 0.00014
PGS AUROC (no covariates): 0.48548 [0.45782, 0.51313]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008610 PGS001192
(GBE_HC1222)
PSS004214|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.6973 [0.62907, 0.76552] : 0.05404
Incremental AUROC (full-covars): -0.01876
PGS R2 (no covariates): 0.00104
PGS AUROC (no covariates): 0.48101 [0.40847, 0.55354]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008611 PGS001192
(GBE_HC1222)
PSS004215|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.66024 [0.6461, 0.67438] PGS R2 (no covariates): 0.00516
: 0.04745
Incremental AUROC (full-covars): 0.00488
PGS AUROC (no covariates): 0.54777 [0.53172, 0.56382]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008612 PGS001192
(GBE_HC1222)
PSS004216|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.72749 [0.70853, 0.74646] : 0.11678
Incremental AUROC (full-covars): 0.00024
PGS R2 (no covariates): 0.00229
PGS AUROC (no covariates): 0.53307 [0.5103, 0.55585]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008613 PGS001192
(GBE_HC1222)
PSS004217|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.64504 [0.63733, 0.65274] : 0.04312
Incremental AUROC (full-covars): 0.0104
PGS R2 (no covariates): 0.0068
PGS AUROC (no covariates): 0.55655 [0.54824, 0.56485]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008948 PGS001290
(GBE_HC376)
PSS004461|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Osteoarthritis AUROC: 0.75416 [0.72668, 0.78163] : 0.12216
Incremental AUROC (full-covars): -3e-05
PGS R2 (no covariates): 0.00052
PGS AUROC (no covariates): 0.51951 [0.48655, 0.55248]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008949 PGS001290
(GBE_HC376)
PSS004462|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Osteoarthritis AUROC: 0.74181 [0.68024, 0.80338] : 0.09715
Incremental AUROC (full-covars): -0.00139
PGS R2 (no covariates): 0.00189
PGS AUROC (no covariates): 0.54245 [0.47153, 0.61338]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008950 PGS001290
(GBE_HC376)
PSS004463|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Osteoarthritis AUROC: 0.70244 [0.69044, 0.71444] : 0.08191
Incremental AUROC (full-covars): 0.0007
PGS R2 (no covariates): 0.0006
PGS AUROC (no covariates): 0.51661 [0.5024, 0.53082]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008951 PGS001290
(GBE_HC376)
PSS004464|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Osteoarthritis AUROC: 0.72534 [0.70181, 0.74887] : 0.09768
Incremental AUROC (full-covars): -0.00173
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.49787 [0.47035, 0.52539]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008952 PGS001290
(GBE_HC376)
PSS004465|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Osteoarthritis AUROC: 0.67419 [0.66753, 0.68085] : 0.0674
Incremental AUROC (full-covars): 0.00134
PGS R2 (no covariates): 0.00109
PGS AUROC (no covariates): 0.52166 [0.51404, 0.52927]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009940 PGS001882
(portability-PLR_740)
PSS009359|
European Ancestry|
20,000 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0409 [0.027, 0.0547] sex, age, birth date, deprivation index, 16 PCs
PPM009941 PGS001882
(portability-PLR_740)
PSS009133|
European Ancestry|
4,136 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0415 [0.0109, 0.0719] sex, age, birth date, deprivation index, 16 PCs
PPM009942 PGS001882
(portability-PLR_740)
PSS008687|
European Ancestry|
6,660 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0357 [0.0117, 0.0597] sex, age, birth date, deprivation index, 16 PCs
PPM009943 PGS001882
(portability-PLR_740)
PSS008461|
Greater Middle Eastern Ancestry|
1,200 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0326 [-0.0246, 0.0895] sex, age, birth date, deprivation index, 16 PCs
PPM009944 PGS001882
(portability-PLR_740)
PSS008241|
South Asian Ancestry|
6,331 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0211 [-0.0036, 0.0457] sex, age, birth date, deprivation index, 16 PCs
PPM009945 PGS001882
(portability-PLR_740)
PSS008019|
East Asian Ancestry|
1,810 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0051 [-0.0412, 0.0514] sex, age, birth date, deprivation index, 16 PCs
PPM009946 PGS001882
(portability-PLR_740)
PSS007805|
African Ancestry|
2,484 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0312 [-0.0083, 0.0706] sex, age, birth date, deprivation index, 16 PCs
PPM009947 PGS001882
(portability-PLR_740)
PSS008909|
African Ancestry|
3,924 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0103 [-0.0211, 0.0417] sex, age, birth date, deprivation index, 16 PCs
PPM011608 PGS002094
(portability-ldpred2_740)
PSS009359|
European Ancestry|
20,000 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0535 [0.0397, 0.0673] sex, age, birth date, deprivation index, 16 PCs
PPM011609 PGS002094
(portability-ldpred2_740)
PSS009133|
European Ancestry|
4,136 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0612 [0.0307, 0.0916] sex, age, birth date, deprivation index, 16 PCs
PPM011610 PGS002094
(portability-ldpred2_740)
PSS008687|
European Ancestry|
6,660 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0544 [0.0304, 0.0783] sex, age, birth date, deprivation index, 16 PCs
PPM011611 PGS002094
(portability-ldpred2_740)
PSS008461|
Greater Middle Eastern Ancestry|
1,200 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.025 [-0.0321, 0.082] sex, age, birth date, deprivation index, 16 PCs
PPM011612 PGS002094
(portability-ldpred2_740)
PSS008241|
South Asian Ancestry|
6,331 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0394 [0.0148, 0.064] sex, age, birth date, deprivation index, 16 PCs
PPM011613 PGS002094
(portability-ldpred2_740)
PSS008019|
East Asian Ancestry|
1,810 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): -0.0056 [-0.052, 0.0407] sex, age, birth date, deprivation index, 16 PCs
PPM011614 PGS002094
(portability-ldpred2_740)
PSS007805|
African Ancestry|
2,484 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.0412 [0.0017, 0.0806] sex, age, birth date, deprivation index, 16 PCs
PPM011615 PGS002094
(portability-ldpred2_740)
PSS008909|
African Ancestry|
3,924 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Osteoarthrosis Partial Correlation (partial-r): 0.022 [-0.0094, 0.0534] sex, age, birth date, deprivation index, 16 PCs
PPM014781 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident severe radiographic osteoarthritis OR: 1.33 [1.12, 1.59]
PPM014756 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent radiographic osteoarthritis OR: 1.19 [1.1, 1.28]
PPM014757 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident radiographic osteoarthritis OR: 1.15 [1.05, 1.26]
PPM014758 PGS002728
(PRS_hip)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent radiographic osteoarthritis OR: 1.28 [0.98, 1.65]
PPM014759 PGS002728
(PRS_hip)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident radiographic osteoarthritis OR: 0.95 [0.82, 1.11]
PPM014766 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent clinical osteoarthritis OR: 1.3 [1.15, 1.46]
PPM014767 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident clinical osteoarthritis OR: 1.22 [0.98, 1.51]
PPM014768 PGS002728
(PRS_hip)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident clinical osteoarthritis OR: 0.92 [0.74, 1.14]
PPM014773 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent total hip replacement OR: 1.26 [1.12, 1.41]
PPM014774 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident total hip replacement OR: 1.28 [1.11, 1.48]
PPM014775 PGS002728
(PRS_hip)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident total hip replacement OR: 1.09 [0.79, 1.47]
PPM014779 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Radiographic osteoarthritis progression OR: 1.18 [1.09, 1.28]
PPM014783 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Radiographic osteoarthritis AUROC: 0.59 [0.56, 0.61] Age, sex
PPM014784 PGS002728
(PRS_hip)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Radiographic osteoarthritis AUROC: 0.62 [0.58, 0.65] Age, sex
PPM014785 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Clinical osteoarthritis AUROC: 0.62 [0.56, 0.68] Age, sex
PPM014786 PGS002728
(PRS_hip)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Clinical osteoarthritis AUROC: 0.53 [0.47, 0.59] Age, sex
PPM014787 PGS002728
(PRS_hip)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Total hip replacement AUROC: 0.66 [0.62, 0.70] Age, sex
PPM014788 PGS002728
(PRS_hip)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Total hip replacement AUROC: 0.64 [0.55, 0.73] Age, sex
PPM014760 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent radiographic osteoarthritis OR: 1.17 [1.1, 1.24]
PPM014771 PGS002729
(PRS_knee)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident clinical osteoarthritis OR: 1.26 [1.05, 1.52]
PPM014793 PGS002729
(PRS_knee)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Clinical osteoarthritis AUROC: 0.6 [0.55, 0.65] Age, sex, BMI
PPM014761 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident radiographic osteoarthritis OR: 1.15 [1.06, 1.24]
PPM014762 PGS002729
(PRS_knee)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent radiographic osteoarthritis OR: 1.27 [0.96, 1.68]
PPM014763 PGS002729
(PRS_knee)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident radiographic osteoarthritis OR: 1.09 [0.93, 1.29]
PPM014764 PGS002729
(PRS_knee)
PSS009890|
European Ancestry|
407 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent radiographic osteoarthritis OR: 1.02 [0.69, 1.53]
PPM014765 PGS002729
(PRS_knee)
PSS009890|
European Ancestry|
407 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident radiographic osteoarthritis OR: 1.04 [0.75, 1.45]
PPM014769 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent clinical osteoarthritis OR: 1.23 [1.12, 1.34]
PPM014770 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident clinical osteoarthritis OR: 1.13 [0.94, 1.37]
PPM014772 PGS002729
(PRS_knee)
PSS009890|
European Ancestry|
407 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident clinical osteoarthritis OR: 1.17 [0.8, 1.73]
PPM014776 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Prevalent total knee replacement OR: 1.3 [0.99, 1.71]
PPM014777 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident total knee replacement OR: 1.56 [1.27, 1.91]
PPM014778 PGS002729
(PRS_knee)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident total knee replacement OR: 1.16 [0.65, 2.17]
PPM014780 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Radiographic osteoarthritis progression OR: 1.18 [1.11, 1.25]
PPM014782 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Incident severe radiographic osteoarthritis OR: 1.3 [1.04, 1.63]
PPM014789 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Radiographic osteoarthritis AUROC: 0.6 [0.58, 0.63] Age, sex, BMI
PPM014790 PGS002729
(PRS_knee)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Radiographic osteoarthritis AUROC: 0.57 [0.53, 0.62] Age, sex, BMI
PPM014791 PGS002729
(PRS_knee)
PSS009890|
European Ancestry|
407 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Radiographic osteoarthritis AUROC: 0.53 [0.44, 0.63] Age, BMI
PPM014792 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Clinical osteoarthritis AUROC: 0.66 [0.61, 0.71] Age, sex, BMI
PPM014794 PGS002729
(PRS_knee)
PSS009890|
European Ancestry|
407 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Clinical osteoarthritis AUROC: 0.52 [0.41, 0.63] Age, BMI
PPM014795 PGS002729
(PRS_knee)
PSS009891|
European Ancestry|
14,926 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Total hip replacement AUROC: 0.66 [0.61, 0.71] Age, sex, BMI
PPM014796 PGS002729
(PRS_knee)
PSS009889|
European Ancestry|
1,002 individuals
PGP000336 |
Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Reported Trait: Total hip replacement AUROC: 0.65 [0.49, 0.82] Age, sex, BMI
PPM014939 PGS002749
(PRS10_TKR)
PSS009936|
European Ancestry|
1,422 individuals
PGP000362 |
Lacaze P et al. Arthritis Rheumatol (2022)
Reported Trait: Knee replacement OR: 1.13 [1.07, 1.2] Age, sex, body mass index, education, and index of relative socioeconomic advantage and disadvantage
PPM014940 PGS002750
(PRS37_THR)
PSS009935|
European Ancestry|
1,257 individuals
PGP000362 |
Lacaze P et al. Arthritis Rheumatol (2022)
Reported Trait: Hip replacement OR: 1.23 [1.16, 1.3] Age, sex, body mass index, education, and index of relative socioeconomic advantage and disadvantage
PPM014941 PGS002750
(PRS37_THR)
PSS009935|
European Ancestry|
1,257 individuals
PGP000362 |
Lacaze P et al. Arthritis Rheumatol (2022)
Reported Trait: Hip replacement in men OR: 1.15 [1.06, 1.26] Age, body mass index, education, and index of relative socioeconomic advantage and disadvantage
PPM014942 PGS002750
(PRS37_THR)
PSS009935|
European Ancestry|
1,257 individuals
PGP000362 |
Lacaze P et al. Arthritis Rheumatol (2022)
Reported Trait: Hip replacement in women OR: 1.3 [1.2, 1.4] Age, body mass index, education, and index of relative socioeconomic advantage and disadvantage
PPM014963 PGS002763
(Hip_osteoarthritis_prscs)
PSS009939|
European Ancestry|
39,444 individuals
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Reported Trait: Hip osteoarthritis OR: 1.38 [1.31, 1.46] age, sex, 10 PCs, technical covariates
PPM014967 PGS002767
(Knee_osteoarthritis_prscs)
PSS009939|
European Ancestry|
39,444 individuals
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Reported Trait: Knee osteoarthritis OR: 1.35 [1.3, 1.4] age, sex, 10 PCs, technical covariates
PPM020593 PGS004478
(disease.M16.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: M16 (Coxarthrosis [arthrosis of hip]) OR: 1.29595
PPM020594 PGS004479
(disease.M17.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: M17 (Gonarthrosis [arthrosis of knee]) OR: 1.32326
PPM020663 PGS004548
(meta.M16.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: M16 (Coxarthrosis [arthrosis of hip]) OR: 1.21626
PPM020664 PGS004549
(meta.M17.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: M17 (Gonarthrosis [arthrosis of knee]) OR: 1.36669

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
PSS004465
[
  • 6,097 cases
  • , 61,328 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS008909 3,924 individuals African unspecified Nigeria (West Africa) UKB
PSS008019 1,810 individuals East Asian China (East Asia) UKB
PSS008687 6,660 individuals European Italy (South Europe) UKB
PSS004461
[
  • 305 cases
  • , 6,192 controls
]
African unspecified UKB
PSS004462
[
  • 56 cases
  • , 1,648 controls
]
East Asian UKB
PSS004463
[
  • 1,688 cases
  • , 23,217 controls
]
European non-white British ancestry UKB
PSS004464
[
  • 425 cases
  • , 7,406 controls
]
South Asian UKB
PSS004208
[
  • 85 cases
  • , 6,412 controls
]
African unspecified UKB
PSS004209
[
  • 16 cases
  • , 1,688 controls
]
East Asian UKB
PSS004210
[
  • 779 cases
  • , 24,126 controls
]
European non-white British ancestry UKB
PSS004211
[
  • 74 cases
  • , 7,757 controls
]
South Asian UKB
PSS004212
[
  • 2,783 cases
  • , 64,642 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004213
[
  • 443 cases
  • , 6,054 controls
]
African unspecified UKB
PSS004214
[
  • 56 cases
  • , 1,648 controls
]
East Asian UKB
PSS004215
[
  • 1,333 cases
  • , 23,572 controls
]
European non-white British ancestry UKB
PSS004216
[
  • 684 cases
  • , 7,147 controls
]
South Asian UKB
PSS004217
[
  • 4,861 cases
  • , 62,564 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS007805 2,484 individuals African American or Afro-Caribbean Carribean UKB
PSS009936 1,422 individuals European ASPREE
PSS009935 1,257 individuals European ASPREE
PSS008461 1,200 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009359 20,000 individuals European UK (+ Ireland) UKB
PSS009889 Radiographic hip and/or knee-OA was defined in all five cohorts by a KL score ≥ 2 for one or both joints.In the CHECK cohort, clinical OA was defined as clinically relevant hip or knee osteoarthritis by a group of 36 GPs and secondary care physicians by manually evaluating the study records over the 5-10 years of follow-up 1,002 individuals,
21.0 % Male samples
Mean = 55.9 years
Sd = 5.2 years
European NR CHECK
PSS009890 Radiographic hip and/or knee-OA was defined in all five cohorts by a KL score ≥ 2 for one or both joints.Clinical OA in the PROOF cohort was defined based on the American College of Rheumatology (ACR) definition [26], which is defined based on knee pain on most days of the last month plus at least 3 of the following clinical findings: age > 50 years, stiffness < 30 minutes, crepitus, bony tenderness, bony enlargement, and no palpable warmth. Prevalent cases were defined at baseline. 407 individuals,
0.0 % Male samples
Mean = 55.8 years
Sd = 3.2 years
European NR PROOF
PSS009891 Radiographic hip and/or knee-OA was defined in all five cohorts by a KL score ≥ 2 for one or both joints.Clinical OA in Rotterdam Study was defined as reported pain in the last month and a KL score ≥ 2 in that hip or knee joint and the control group was defined as containing all participants who had not been diagnosed with radiographic OA by the end of follow-up time. 14,926 individuals European RS
PSS011364 56,192 individuals European UKB
PSS009939 39,444 individuals European
(Finnish)
FinnGen
PSS009133 4,136 individuals European Poland (NE Europe) UKB
PSS008241 6,331 individuals South Asian India (South Asia) UKB