Trait: rheumatoid arthritis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000685
Description A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. [NCIT: C2884]
Trait category
Immune system disorder
Synonyms 18 synonyms
  • Arthritis or polyarthritis, rheumatic
  • Arthritis, Rheumatoid
  • Chronic rheumatic arthritis
  • Proliferative arthritis
  • RA
  • RA - Rheumatoid arthritis
  • RhA - Rheumatoid arthritis
  • Rheumatic gout
  • Rheumatoid arthritis (disorder)
  • Rheumatoid arthritis NOS
  • Rheumatoid arthritis NOS (disorder)
  • Rheumatoid disease
  • arthritis or polyarthritis, rheumatic
  • arthritis, rheumatoid
  • atrophic Arthritis
  • atrophic arthritis
  • autoimmune arthritis
  • rheumatoid arthritis
Mapped terms 18 mapped terms
  • DOID:7148
  • ICD10:M05
  • ICD10:M06
  • ICD10:M06.9
  • ICD9:714.0
  • KEGG:05323
  • MESH:D001172
  • MONDO:0008383
  • MeSH:D001172
  • MedDRA:10037740
  • MedDRA:10039073
  • NCIT:C2884
  • NCIt:C2884
  • OMIM:180300
  • OMIM:604302
  • SCTID:69896004
  • SNOMEDCT:69896004
  • UMLS:C0003873
Child trait(s) 4 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 "rheumatoid arthritis" 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 Scoring File (FTP Link)
PGS000194
(G-PROB_Rapos)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Rheumatoid Arthritis (CCP-positive) ACPA-positive rheumatoid arthritis 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000194/ScoringFiles/PGS000194.txt.gz
PGS000195
(G-PROB_Raneg)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Rheumatoid Arthritis (CCP-negative) ACPA-negative rheumatoid arthritis 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000195/ScoringFiles/PGS000195.txt.gz
PGS000198
(G-PROB_PsA)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Psoriatic arthritis psoriatic arthritis 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000198/ScoringFiles/PGS000198.txt.gz
PGS000342
(wGRS_PsA)
PGP000111 |
Smith MP et al. J Psoriasis Psoriatic Arthritis (2020)
Psoriatic arthritis psoriatic arthritis 11
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000342/ScoringFiles/PGS000342.txt.gz
PGS000343
(wGRS_PsA_HLA)
PGP000111 |
Smith MP et al. J Psoriasis Psoriatic Arthritis (2020)
Psoriatic arthritis psoriatic arthritis 5
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000343/ScoringFiles/PGS000343.txt.gz
PGS001267
(GBE_HC422)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Ankylosing spondylitis ankylosing spondylitis 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001267/ScoringFiles/PGS001267.txt.gz
PGS001268
(GBE_HC1242)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Ankylosing spondylitis (time-to-event) ankylosing spondylitis 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001268/ScoringFiles/PGS001268.txt.gz
PGS001287
(GBE_HC91)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Psoriatic arthropathy psoriatic arthritis 36
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001287/ScoringFiles/PGS001287.txt.gz
PGS001309
(GBE_HC1212)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Other rheumatoid arthritis (time-to-event) rheumatoid arthritis 323
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001309/ScoringFiles/PGS001309.txt.gz
PGS001310
(GBE_HC430)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Rheumatoid arthritis rheumatoid arthritis 175
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001310/ScoringFiles/PGS001310.txt.gz
PGS001311
(GBE_HC1211)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Seropositive rheumatoid arthritis (time-to-event) rheumatoid arthritis 3
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001311/ScoringFiles/PGS001311.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
PPM000577 PGS000194
(G-PROB_Rapos)
PSS000315|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.63, 0.76] RAN_Gprob (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000571 PGS000194
(G-PROB_Rapos)
PSS000314|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.75 [0.68, 0.81] G-PROB_Raneg (Setting II: Assigning patient diagnoses based on medical records)
PPM000565 PGS000194
(G-PROB_Rapos)
PSS000322|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.65, 0.72] G-PROB_Raneg (Setting I: Assigning patient diagnoses based on billing codes)
PPM000578 PGS000195
(G-PROB_Raneg)
PSS000315|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.63, 0.76] G-PROB_Rapos (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000572 PGS000195
(G-PROB_Raneg)
PSS000314|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.75 [0.68, 0.81] G-PROB_Rapos (Setting II: Assigning patient diagnoses based on medical records)
PPM000566 PGS000195
(G-PROB_Raneg)
PSS000322|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.65, 0.72] G-PROB_Rapos (Setting I: Assigning patient diagnoses based on billing codes)
PPM000581 PGS000198
(G-PROB_PsA)
PSS000313|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Psoriatic arthritis diagnosis in patient with arthritis AUROC: 0.62 [0.48, 0.8] (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000575 PGS000198
(G-PROB_PsA)
PSS000312|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Psoriatic arthritis diagnosis in patient with arthritis AUROC: 0.71 [0.63, 0.82] (Setting II: Assigning patient diagnoses based on medical records)
PPM000569 PGS000198
(G-PROB_PsA)
PSS000321|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Psoriatic arthritis diagnosis in patient with arthritis AUROC: 0.61 [0.52, 0.69] (Setting I: Assigning patient diagnoses based on billing codes)
PPM000971 PGS000342
(wGRS_PsA)
PSS000490|
Ancestry Not Reported|
543 individuals
PGP000111 |
Smith MP et al. J Psoriasis Psoriatic Arthritis (2020)
Reported Trait: Psoriatic arthritis AUROC: 0.562 [0.506, 0.618]
PPM000972 PGS000343
(wGRS_PsA_HLA)
PSS000490|
Ancestry Not Reported|
543 individuals
PGP000111 |
Smith MP et al. J Psoriasis Psoriatic Arthritis (2020)
Reported Trait: Psoriatic arthritis AUROC: 0.569 [0.513, 0.625]
PPM008840 PGS001267
(GBE_HC422)
PSS004486|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.86744 [0.75569, 0.97918] : 0.1463
Incremental AUROC (full-covars): -0.00062
PGS R2 (no covariates): 0.00216
PGS AUROC (no covariates): 0.4722 [0.12421, 0.82018]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008841 PGS001267
(GBE_HC422)
PSS004487|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.98913 [0.972, 1.0] : 0.44316
Incremental AUROC (full-covars): 0.0423
PGS R2 (no covariates): 0.24382
PGS AUROC (no covariates): 0.81698 [0.46329, 1.0]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008842 PGS001267
(GBE_HC422)
PSS004488|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.73638 [0.67151, 0.80124] : 0.10414
Incremental AUROC (full-covars): 0.06004
PGS R2 (no covariates): 0.07222
PGS AUROC (no covariates): 0.67545 [0.60736, 0.74353]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008843 PGS001267
(GBE_HC422)
PSS004489|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.73535 [0.61203, 0.85867] : 0.03713
Incremental AUROC (full-covars): -0.01782
PGS R2 (no covariates): 0.00902
PGS AUROC (no covariates): 0.42181 [0.29024, 0.55338]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008844 PGS001267
(GBE_HC422)
PSS004490|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.74328 [0.70673, 0.77983] : 0.10925
Incremental AUROC (full-covars): 0.12994
PGS R2 (no covariates): 0.09877
PGS AUROC (no covariates): 0.72651 [0.68965, 0.76337]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008845 PGS001268
(GBE_HC1242)
PSS004228|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.86811 [0.75774, 0.97849] : 0.14598
Incremental AUROC (full-covars): 6e-05
PGS R2 (no covariates): 0.00104
PGS AUROC (no covariates): 0.48424 [0.12443, 0.84406]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008846 PGS001268
(GBE_HC1242)
PSS004229|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.99148 [0.9789, 1.0] : 0.44858
Incremental AUROC (full-covars): 0.04465
PGS R2 (no covariates): 0.23755
PGS AUROC (no covariates): 0.81257 [0.45025, 1.0]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008847 PGS001268
(GBE_HC1242)
PSS004230|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.73336 [0.66901, 0.79772] : 0.10217
Incremental AUROC (full-covars): 0.0575
PGS R2 (no covariates): 0.06991
PGS AUROC (no covariates): 0.67405 [0.607, 0.74111]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008848 PGS001268
(GBE_HC1242)
PSS004231|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.73282 [0.61573, 0.84991] : 0.03979
Incremental AUROC (full-covars): -0.01963
PGS R2 (no covariates): 0.00774
PGS AUROC (no covariates): 0.4297 [0.29438, 0.56502]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008849 PGS001268
(GBE_HC1242)
PSS004232|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.74878 [0.71314, 0.78442] : 0.115
Incremental AUROC (full-covars): 0.12686
PGS R2 (no covariates): 0.10232
PGS AUROC (no covariates): 0.7346 [0.69884, 0.77037]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008933 PGS001287
(GBE_HC91)
PSS004706|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.98006 [0.94602, 1.0] Incremental AUROC (full-covars): 0.00516
: 0.29301
PGS R2 (no covariates): 0.01017
PGS AUROC (no covariates): 0.72132 [0.63231, 0.81034]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008934 PGS001287
(GBE_HC91)
PSS004707|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.99354 [0.98059, 1.0] : 0.5357
Incremental AUROC (full-covars): -0.00088
PGS R2 (no covariates): 0.00227
PGS AUROC (no covariates): 0.47826 [0.0, 0.96911]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008935 PGS001287
(GBE_HC91)
PSS004708|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.72814 [0.67154, 0.78475] : 0.05154
Incremental AUROC (full-covars): 0.08346
PGS R2 (no covariates): 0.0335
PGS AUROC (no covariates): 0.67648 [0.61155, 0.7414]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008936 PGS001287
(GBE_HC91)
PSS004709|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.71827 [0.61363, 0.82292] : 0.04395
Incremental AUROC (full-covars): 0.00838
PGS R2 (no covariates): 0.00229
PGS AUROC (no covariates): 0.56943 [0.44876, 0.69011]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008937 PGS001287
(GBE_HC91)
PSS004710|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.6376 [0.60073, 0.67447] : 0.02161
Incremental AUROC (full-covars): 0.0945
PGS R2 (no covariates): 0.02111
PGS AUROC (no covariates): 0.63567 [0.598, 0.67334]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009039 PGS001309
(GBE_HC1212)
PSS004193|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.69751 [0.65515, 0.73988] : 0.05129
Incremental AUROC (full-covars): -0.00017
PGS R2 (no covariates): 0.00056
PGS AUROC (no covariates): 0.52591 [0.47486, 0.57696]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009040 PGS001309
(GBE_HC1212)
PSS004194|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.67331 [0.56418, 0.78244] : 0.07058
Incremental AUROC (full-covars): -0.02511
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.50714 [0.3797, 0.63457]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009041 PGS001309
(GBE_HC1212)
PSS004195|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.6872 [0.66167, 0.71273] : 0.04826
Incremental AUROC (full-covars): 0.02601
PGS R2 (no covariates): 0.01537
PGS AUROC (no covariates): 0.59782 [0.56885, 0.62679]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009042 PGS001309
(GBE_HC1212)
PSS004196|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.70239 [0.66722, 0.73755] : 0.06164
Incremental AUROC (full-covars): -0.00362
PGS R2 (no covariates): 0.00158
PGS AUROC (no covariates): 0.53481 [0.4923, 0.57731]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009043 PGS001309
(GBE_HC1212)
PSS004197|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.66538 [0.65101, 0.67976] : 0.03893
Incremental AUROC (full-covars): 0.03207
PGS R2 (no covariates): 0.01495
PGS AUROC (no covariates): 0.59784 [0.582, 0.61368]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009044 PGS001310
(GBE_HC430)
PSS004491|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.70522 [0.66309, 0.74736] : 0.0544
Incremental AUROC (full-covars): 0.00203
PGS R2 (no covariates): 0.00109
PGS AUROC (no covariates): 0.53147 [0.47999, 0.58294]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009045 PGS001310
(GBE_HC430)
PSS004492|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.66116 [0.54578, 0.77655] : 0.06929
Incremental AUROC (full-covars): -0.02514
PGS R2 (no covariates): 0.00033
PGS AUROC (no covariates): 0.52178 [0.38366, 0.6599]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009046 PGS001310
(GBE_HC430)
PSS004493|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.68857 [0.6632, 0.71393] : 0.04919
Incremental AUROC (full-covars): 0.02092
PGS R2 (no covariates): 0.01316
PGS AUROC (no covariates): 0.58714 [0.55751, 0.61676]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009047 PGS001310
(GBE_HC430)
PSS004494|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.70402 [0.66905, 0.73899] : 0.06207
Incremental AUROC (full-covars): -0.0019
PGS R2 (no covariates): 0.00142
PGS AUROC (no covariates): 0.53137 [0.48984, 0.57291]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009048 PGS001310
(GBE_HC430)
PSS004495|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.66508 [0.65049, 0.67967] : 0.03894
Incremental AUROC (full-covars): 0.03077
PGS R2 (no covariates): 0.01509
PGS AUROC (no covariates): 0.60018 [0.58428, 0.61607]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009049 PGS001311
(GBE_HC1211)
PSS004188|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE seropositive rheumatoid arthritis AUROC: 0.90345 [0.82233, 0.98457] : 0.16794
Incremental AUROC (full-covars): -0.00669
PGS R2 (no covariates): 0.01613
PGS AUROC (no covariates): 0.39273 [0.11505, 0.67041]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009050 PGS001311
(GBE_HC1211)
PSS004190|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE seropositive rheumatoid arthritis AUROC: 0.76787 [0.6839, 0.85184] : 0.08412
Incremental AUROC (full-covars): 0.0418
PGS R2 (no covariates): 0.05847
PGS AUROC (no covariates): 0.73164 [0.63667, 0.82662]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009051 PGS001311
(GBE_HC1211)
PSS004191|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE seropositive rheumatoid arthritis AUROC: 0.76865 [0.6608, 0.87651] : 0.08089
Incremental AUROC (full-covars): -0.00731
PGS R2 (no covariates): 0.00567
PGS AUROC (no covariates): 0.50626 [0.35145, 0.66107]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009052 PGS001311
(GBE_HC1211)
PSS004192|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE seropositive rheumatoid arthritis AUROC: 0.73785 [0.69634, 0.77936] : 0.05309
Incremental AUROC (full-covars): 0.09202
PGS R2 (no covariates): 0.04612
PGS AUROC (no covariates): 0.7072 [0.65945, 0.75495]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS004188
[
  • 5 cases
  • , 6,492 controls
]
African unspecified UKB
PSS004190
[
  • 32 cases
  • , 24,873 controls
]
European non-white British ancestry UKB
PSS004191
[
  • 18 cases
  • , 7,813 controls
]
South Asian UKB
PSS004192
[
  • 127 cases
  • , 67,298 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004193
[
  • 122 cases
  • , 6,375 controls
]
African unspecified UKB
PSS004706
[
  • 2 cases
  • , 6,495 controls
]
African unspecified UKB
PSS004707
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004708
[
  • 81 cases
  • , 24,824 controls
]
European non-white British ancestry UKB
PSS000312 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 30 cases
  • , 215 controls
]
,
32.0 % Male samples
European PHB
PSS000313 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 22 cases
  • , 221 controls
]
,
32.0 % Male samples
European PHB
PSS000314 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 90 cases
  • , 155 controls
]
,
32.0 % Male samples
European PHB
PSS000315 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 115 cases
  • , 128 controls
]
,
32.0 % Male samples
European PHB
PSS004709
[
  • 21 cases
  • , 7,810 controls
]
South Asian UKB
PSS004710
[
  • 231 cases
  • , 67,194 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004194
[
  • 19 cases
  • , 1,685 controls
]
East Asian UKB
PSS004195
[
  • 409 cases
  • , 24,496 controls
]
European non-white British ancestry UKB
PSS004196
[
  • 197 cases
  • , 7,634 controls
]
South Asian UKB
PSS000321 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 52 cases
  • , 1,159 controls
]
,
43.0 % Male samples
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE
PSS000322 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 574 cases
  • , 637 controls
]
,
43.0 % Male samples
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE
PSS004228
[
  • 5 cases
  • , 6,492 controls
]
African unspecified UKB
PSS004229
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004486
[
  • 5 cases
  • , 6,492 controls
]
African unspecified UKB
PSS004487
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004488
[
  • 79 cases
  • , 24,826 controls
]
European non-white British ancestry UKB
PSS004489
[
  • 14 cases
  • , 7,817 controls
]
South Asian UKB
PSS004490
[
  • 268 cases
  • , 67,157 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004230
[
  • 80 cases
  • , 24,825 controls
]
European non-white British ancestry UKB
PSS004231
[
  • 15 cases
  • , 7,816 controls
]
South Asian UKB
PSS000490 Cases included physician-confirmed psoriatic arthritis (PsA). Controls inclded individuals with psoriasis with no history of joint symptoms (psoriasis only - PsO).
[
  • 140 cases
  • , 403 controls
]
NR NR
PSS004232
[
  • 278 cases
  • , 67,147 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004491
[
  • 118 cases
  • , 6,379 controls
]
African unspecified UKB
PSS004492
[
  • 18 cases
  • , 1,686 controls
]
East Asian UKB
PSS004493
[
  • 399 cases
  • , 24,506 controls
]
European non-white British ancestry UKB
PSS004494
[
  • 194 cases
  • , 7,637 controls
]
South Asian UKB
PSS004495
[
  • 1,301 cases
  • , 66,124 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004197
[
  • 1,343 cases
  • , 66,082 controls
]
European white British ancestry UKB Testing cohort (heldout set)