Polygenic Score (PGS) ID: PGS002729

Predicted Trait
Reported Trait Knee osteoarthritis
Mapped Trait(s) osteoarthritis, knee (EFO_0004616)
Released in PGS Catalog: June 29, 2022
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRS_knee
Development Method
Name Genome-wide significant variants
Parameters p<1.3E–8
Variants
Original Genome Build GRCh37
Number of Variants 24
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000336
Citation (link to publication) Sedaghati-Khayat B et al. Arthritis Rheumatol (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 98.9%
East Asian: 1.1%
396,044 individuals (100%)
PGS Evaluation
European: 100%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90034523
Europe PMC: 34450027
391,749 individuals European 9 cohorts
  • BBJ
  • ,EB
  • ,GARP
  • ,HUNT
  • ,LLS
  • ,MyCode
  • ,UKB
  • ,arcOGEN
  • ,deCODE
GWAS Catalog: GCST90034523
Europe PMC: 34450027
4,295 individuals East Asian 9 cohorts
  • BBJ
  • ,EB
  • ,GARP
  • ,HUNT
  • ,LLS
  • ,MyCode
  • ,UKB
  • ,arcOGEN
  • ,deCODE

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM014760 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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
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