Trait: osteoarthritis, hip

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000786
Description Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. [MESH: D015207]
Trait category
Other disease
Synonyms 10 synonyms
  • Coxarthroses
  • Coxarthrosis
  • Hip Osteoarthritides
  • Hip Osteoarthritis
  • Osteoarthritides, Hip
  • Osteoarthritis Of Hip
  • Osteoarthritis Of Hips
  • hip osteoarthritis
  • osteoarthritis of the hip
  • osteoarthritis, hip
Mapped terms 6 mapped terms
  • ICD10:M16
  • MEDGEN:14530
  • MESH:D015207
  • MONDO:0006629
  • NCIT:C34876
  • UMLS:C0029410

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
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
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
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
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
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
PGS004882
(INTERVENE_MegaPRS_Hip_osteoarthritis)
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Hip osteoarthritis osteoarthritis, hip 773,587
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004882/ScoringFiles/PGS004882.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] R²: 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] R²: 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] R²: 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] R²: 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] R²: 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
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 —
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 —
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 — — — —
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 — — — —
PPM021231 PGS004882
(INTERVENE_MegaPRS_Hip_osteoarthritis)
 PSS011593|
European Ancestry|
37,024 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident hip osteoarthritis HR: 1.16 [1.13, 1.2] C-index: 0.55 [0.54, 0.56] — PCs 1-10 —
PPM021232 PGS004882
(INTERVENE_MegaPRS_Hip_osteoarthritis)
 PSS011592|
European Ancestry|
69,715 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident hip osteoarthritis HR: 1.33 [1.29, 1.37] C-index: 0.58 [0.57, 0.59] — PCs 1-10 —
PPM021233 PGS004882
(INTERVENE_MegaPRS_Hip_osteoarthritis)
 PSS011591|
European Ancestry|
29,427 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident hip osteoarthritis HR: 1.46 [1.36, 1.56] C-index: 0.6 [0.58, 0.63] — PCs 1-10 —
PPM021234 PGS004882
(INTERVENE_MegaPRS_Hip_osteoarthritis)
 PSS011589|
European Ancestry|
44,188 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident hip osteoarthritis HR: 1.07 [0.88, 1.31] — — PCs 1-10 —
PPM021235 PGS004882
(INTERVENE_MegaPRS_Hip_osteoarthritis)
 PSS011590|
European Ancestry|
7,018 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident hip osteoarthritis HR: 1.35 [1.24, 1.48] C-index: 0.6 [0.57, 0.63] — PCs 1-10 —
PPM021236 PGS004882
(INTERVENE_MegaPRS_Hip_osteoarthritis)
 PSS011588|
European Ancestry|
412,090 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident hip osteoarthritis HR: 1.4 [1.38, 1.42] C-index: 0.6 [0.6, 0.6] — PCs 1-10 —
PPM021237 PGS004882
(INTERVENE_MegaPRS_Hip_osteoarthritis)
 PSS011587|
European Ancestry|
199,868 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident hip osteoarthritis HR: 1.15 [1.13, 1.16] C-index: 0.57 [0.56, 0.57] — 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
PSS011587 — —
[
  • 21,639 cases
  • , 178,229 controls
]
 — European — EB —
PSS011588 — —
[
  • 22,634 cases
  • , 389,456 controls
]
 — European — FinnGen —
PSS011589 — —
[
  • 96 cases
  • , 44,092 controls
]
 — European — G&H —
PSS011590 — —
[
  • 516 cases
  • , 6,502 controls
]
 — European — GS:SFHS —
PSS011591 — —
[
  • 839 cases
  • , 28,588 controls
]
 — European — GEL —
PSS011592 — —
[
  • 4,219 cases
  • , 65,496 controls
]
 — European — HUNT —
PSS011593 — —
[
  • 5,536 cases
  • , 31,488 controls
]
 — European — MGBB —
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
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)
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 —
PSS009935 — — 1,257 individuals — European — ASPREE —