Trait: osteoarthritis, knee

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004616
Description Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019) [MESH: D020370]
Trait category
Other disease
Synonyms 9 synonyms
  • Knee Osteoarthritides
  • Knee Osteoarthritis
  • Knee, Osteoarthritis Of
  • Knees, Osteoarthritis Of
  • Osteoarthritides, Knee
  • Osteoarthritis Of Knee
  • Osteoarthritis Of Knees
  • osteoarthritis of the knee
  • osteoarthritis, knee
Mapped terms 6 mapped terms
  • ICD10:M17
  • MEDGEN:98371
  • MESH:D020370
  • MONDO:0005416
  • MeSH:D020370
  • UMLS:C0409959

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)
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
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
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
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
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
PGS004883
(INTERVENE_MegaPRS_Knee_osteoarthritis)
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Knee osteoarthritis osteoarthritis, knee 952,133
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004883/ScoringFiles/PGS004883.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
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] R²: 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] R²: 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
R²: 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] R²: 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] R²: 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
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 —
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 —
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 — — — —
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 — — — —
PPM021238 PGS004883
(INTERVENE_MegaPRS_Knee_osteoarthritis)
 PSS011600|
European Ancestry|
37,245 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident knee osteoarthritis HR: 1.19 [1.17, 1.22] C-index: 0.56 [0.55, 0.57] — PCs 1-10 —
PPM021239 PGS004883
(INTERVENE_MegaPRS_Knee_osteoarthritis)
 PSS011599|
European Ancestry|
69,715 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident knee osteoarthritis HR: 1.32 [1.28, 1.35] C-index: 0.58 [0.57, 0.59] — PCs 1-10 —
PPM021240 PGS004883
(INTERVENE_MegaPRS_Knee_osteoarthritis)
 PSS011598|
European Ancestry|
29,427 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident knee osteoarthritis HR: 1.37 [1.3, 1.44] C-index: 0.6 [0.58, 0.61] — PCs 1-10 —
PPM021241 PGS004883
(INTERVENE_MegaPRS_Knee_osteoarthritis)
 PSS011596|
European Ancestry|
44,188 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident knee osteoarthritis HR: 1.17 [1.1, 1.24] — — PCs 1-10 —
PPM021242 PGS004883
(INTERVENE_MegaPRS_Knee_osteoarthritis)
 PSS011597|
European Ancestry|
7,018 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident knee osteoarthritis HR: 1.28 [1.17, 1.39] C-index: 0.6 [0.57, 0.62] — PCs 1-10 —
PPM021243 PGS004883
(INTERVENE_MegaPRS_Knee_osteoarthritis)
 PSS011595|
European Ancestry|
412,090 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident knee osteoarthritis HR: 1.32 [1.31, 1.34] C-index: 0.59 [0.58, 0.59] — PCs 1-10 —
PPM021244 PGS004883
(INTERVENE_MegaPRS_Knee_osteoarthritis)
 PSS011594|
European Ancestry|
199,868 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident knee osteoarthritis HR: 1.17 [1.16, 1.18] C-index: 0.56 [0.56, 0.56] — 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
PSS011364 — — 56,192 individuals — European — UKB —
PSS009936 — — 1,422 individuals — European — ASPREE —
PSS011594 — —
[
  • 38,047 cases
  • , 161,821 controls
]
 — European — EB —
PSS011595 — —
[
  • 46,914 cases
  • , 365,176 controls
]
 — European — FinnGen —
PSS011596 — —
[
  • 1,053 cases
  • , 43,135 controls
]
 — European — G&H —
PSS011597 — —
[
  • 538 cases
  • , 6,480 controls
]
 — European — GS:SFHS —
PSS011598 — —
[
  • 1,600 cases
  • , 27,827 controls
]
 — European — GEL —
PSS011599 — —
[
  • 5,041 cases
  • , 64,674 controls
]
 — European — HUNT —
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 —
PSS011600 — —
[
  • 8,184 cases
  • , 29,061 controls
]
 — European — MGBB —
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)
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —