| Publication Information (EuropePMC) | |
| Title | Risk assessment for hip and knee osteoarthritis using polygenic risk scores. |
| PubMed ID | 35644035(Europe PMC) |
| doi | 10.1002/art.42246 |
| Publication Date | May 29, 2022 |
| Journal | Arthritis Rheumatol |
| Author(s) | Sedaghati-Khayat B, Boer CG, Runhaar J, Bierma-Zeinstra SMA, Broer L, Ikram MA, Zeggini E, Uitterlinden AG, van Rooij JGJ, van Meurs JBJ. |
| 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) |
|---|---|---|---|---|---|---|
| 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 |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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] | — | — | — | — |
| 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] | — | — | — | — |
| 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 | — |
| 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] | — | — | — | — |
| 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] | — | — | — | — |
| 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] | — | — | — | — |
| 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] | — | — | — | — |
| 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] | — | — | — | — |
| 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] | — | — | — | — |
| 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] | — | — | — | — |
| 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] | — | — | — | — |
| 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 | — |
| 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 | — |
|
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 | — |