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 18 mapped terms
  • DOID:853
  • GARD:4704
  • ICD10:M35.3
  • ICD9:725
  • MEDGEN:19393
  • MESH:D011111
  • MONDO:0019735
  • MeSH:D011111
  • MedDRA:10036099
  • MedDRA:10068240
  • NCIT:C85018
  • NCIt:C85018
  • NORD:1593
  • Orphanet:93569
  • SCTID:65323003
  • SNOMEDCT:65323003
  • UMLS:C0032533
  • icd11.foundation:103940897

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)
PGS001051
(GBE_HC96)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Polymyalgia rheumatica polymyalgia rheumatica 69
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001051/ScoringFiles/PGS001051.txt.gz
PGS001878
(portability-PLR_717)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Polymyalgia rheumatica polymyalgia rheumatica 142
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001878/ScoringFiles/PGS001878.txt.gz
PGS002091
(portability-ldpred2_717)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Polymyalgia rheumatica polymyalgia rheumatica 129,938
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002091/ScoringFiles/PGS002091.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. PLoS Genet (2022)
 Reported Trait: Polymyalgia rheumatica — AUROC: 0.84007 [0.73377, 0.94637] R²: 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. PLoS Genet (2022)
 Reported Trait: Polymyalgia rheumatica — AUROC: 0.94435 [0.88977, 0.99892] R²: 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. PLoS Genet (2022)
 Reported Trait: Polymyalgia rheumatica — AUROC: 0.82077 [0.78717, 0.85438] R²: 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. PLoS Genet (2022)
 Reported Trait: Polymyalgia rheumatica — AUROC: 0.73708 [0.62459, 0.84956] R²: 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. PLoS Genet (2022)
 Reported Trait: Polymyalgia rheumatica — AUROC: 0.76042 [0.73986, 0.78098] R²: 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
PPM009909 PGS001878
(portability-PLR_717)
 PSS009355|
European Ancestry|
20,000 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0215 [0.0076, 0.0353] sex, age, birth date, deprivation index, 16 PCs —
PPM009911 PGS001878
(portability-PLR_717)
 PSS008683|
European Ancestry|
6,660 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0135 [-0.0105, 0.0376] sex, age, birth date, deprivation index, 16 PCs —
PPM009912 PGS001878
(portability-PLR_717)
 PSS008457|
Greater Middle Eastern Ancestry|
1,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0172 [-0.0399, 0.0742] sex, age, birth date, deprivation index, 16 PCs —
PPM009913 PGS001878
(portability-PLR_717)
 PSS008237|
South Asian Ancestry|
6,331 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0191 [-0.0056, 0.0438] sex, age, birth date, deprivation index, 16 PCs —
PPM009914 PGS001878
(portability-PLR_717)
 PSS008016|
East Asian Ancestry|
1,810 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): -0.0064 [-0.0527, 0.0399] sex, age, birth date, deprivation index, 16 PCs —
PPM009915 PGS001878
(portability-PLR_717)
 PSS007801|
African Ancestry|
2,484 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0191 [-0.0204, 0.0585] sex, age, birth date, deprivation index, 16 PCs —
PPM009916 PGS001878
(portability-PLR_717)
 PSS008905|
African Ancestry|
3,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0283 [-0.0031, 0.0596] sex, age, birth date, deprivation index, 16 PCs —
PPM009910 PGS001878
(portability-PLR_717)
 PSS009129|
European Ancestry|
4,136 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0281 [-0.0025, 0.0586] sex, age, birth date, deprivation index, 16 PCs —
PPM011585 PGS002091
(portability-ldpred2_717)
 PSS009355|
European Ancestry|
20,000 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0222 [0.0084, 0.0361] sex, age, birth date, deprivation index, 16 PCs —
PPM011586 PGS002091
(portability-ldpred2_717)
 PSS009129|
European Ancestry|
4,136 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0201 [-0.0104, 0.0506] sex, age, birth date, deprivation index, 16 PCs —
PPM011587 PGS002091
(portability-ldpred2_717)
 PSS008683|
European Ancestry|
6,660 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0127 [-0.0113, 0.0368] sex, age, birth date, deprivation index, 16 PCs —
PPM011588 PGS002091
(portability-ldpred2_717)
 PSS008457|
Greater Middle Eastern Ancestry|
1,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0089 [-0.0482, 0.0659] sex, age, birth date, deprivation index, 16 PCs —
PPM011589 PGS002091
(portability-ldpred2_717)
 PSS008237|
South Asian Ancestry|
6,331 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0224 [-0.0023, 0.047] sex, age, birth date, deprivation index, 16 PCs —
PPM011590 PGS002091
(portability-ldpred2_717)
 PSS008016|
East Asian Ancestry|
1,810 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): -0.0123 [-0.0586, 0.0341] sex, age, birth date, deprivation index, 16 PCs —
PPM011591 PGS002091
(portability-ldpred2_717)
 PSS007801|
African Ancestry|
2,484 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0205 [-0.0191, 0.0599] sex, age, birth date, deprivation index, 16 PCs —
PPM011592 PGS002091
(portability-ldpred2_717)
 PSS008905|
African Ancestry|
3,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polymyalgia Rheumatica — — Partial Correlation (partial-r): 0.0283 [-0.003, 0.0596] sex, age, birth date, deprivation index, 16 PCs —

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
PSS008457 — — 1,200 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008905 — — 3,924 individuals — African unspecified Nigeria (West Africa) UKB —
PSS009355 — — 20,000 individuals — European UK (+ Ireland) UKB —
PSS008683 — — 6,660 individuals — European Italy (South Europe) UKB —
PSS008237 — — 6,331 individuals — South Asian India (South Asia) UKB —
PSS009129 — — 4,136 individuals — European Poland (NE Europe) UKB —
PSS008016 — — 1,810 individuals — East Asian China (East Asia) UKB —
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)
PSS007801 — — 2,484 individuals — African American or Afro-Caribbean Carribean UKB —