Trait: polymyalgia rheumatica

Experimental Factor Ontology (EFO) Information
Identifier EFO_0008518
Description A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression. [NCIT: P378]
Trait category
Other disease
Synonyms 2 synonyms
  • polymyalgia rheumatica
  • rhizomelic pseudopolyarthritis
Mapped terms 15 mapped terms
  • DOID:853
  • GARD:0004704
  • ICD10:M35.3
  • ICD9:725
  • MESH:D011111
  • MeSH:D011111
  • MedDRA:10036099
  • MedDRA:10068240
  • NCIT:C85018
  • NCIt:C85018
  • Orphanet:93569
  • SCTID:65323003
  • SNOMEDCT:65323003
  • UMLS:C0032533
  • UMLS:C1527406

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 Scoring File (FTP Link)
PGS001051
(GBE_HC96)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Polymyalgia rheumatica polymyalgia rheumatica 69
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001051/ScoringFiles/PGS001051.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
PPM008013 PGS001051
(GBE_HC96)
PSS004751|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.84007 [0.73377, 0.94637] : 0.10995
Incremental AUROC (full-covars): 0.00396
PGS R2 (no covariates): 0.0041
PGS AUROC (no covariates): 0.59347 [0.45814, 0.7288]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008014 PGS001051
(GBE_HC96)
PSS004752|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.94435 [0.88977, 0.99892] : 0.24363
Incremental AUROC (full-covars): 0.00372
PGS R2 (no covariates): 0.00287
PGS AUROC (no covariates): 0.45385 [0.09439, 0.81331]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008015 PGS001051
(GBE_HC96)
PSS004753|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.82077 [0.78717, 0.85438] : 0.12384
Incremental AUROC (full-covars): 0.0077
PGS R2 (no covariates): 0.01385
PGS AUROC (no covariates): 0.60167 [0.54507, 0.65826]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008016 PGS001051
(GBE_HC96)
PSS004754|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.73708 [0.62459, 0.84956] : 0.05254
Incremental AUROC (full-covars): 0.00266
PGS R2 (no covariates): 0.00471
PGS AUROC (no covariates): 0.54813 [0.38601, 0.71025]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008017 PGS001051
(GBE_HC96)
PSS004755|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.76042 [0.73986, 0.78098] : 0.07774
Incremental AUROC (full-covars): 0.0165
PGS R2 (no covariates): 0.01265
PGS AUROC (no covariates): 0.61026 [0.58102, 0.6395]
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
PSS004751
[
  • 13 cases
  • , 6,484 controls
]
African unspecified UKB
PSS004752
[
  • 3 cases
  • , 1,701 controls
]
East Asian UKB
PSS004753
[
  • 118 cases
  • , 24,787 controls
]
European non-white British ancestry UKB
PSS004754
[
  • 16 cases
  • , 7,815 controls
]
South Asian UKB
PSS004755
[
  • 394 cases
  • , 67,031 controls
]
European white British ancestry UKB Testing cohort (heldout set)