Polygenic Score (PGS) ID: PGS001879

Predicted Trait
Reported Trait Ganglion and cyst of synovium, tendon, and bursa
Mapped Trait(s) ganglion or cyst of synovium/tendon/bursa (MONDO_0004874)
Additional Trait Information musculoskeletal
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-PLR_727.4
Development Method
Name Penalized regression (bigstatsr)
Parameters HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 210
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000263
Citation (link to publication) Privé F et al. Am J Hum Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
391,124 individuals (100%)
PGS Evaluation
European: 37.5%
African: 25%
East Asian: 12.5%
Greater Middle Eastern: 12.5%
South Asian: 12.5%
8 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
391,124 individuals European UKB UK (+ Ireland)

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
PPM009917 PSS009356|
European Ancestry|
18,953 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Ganglion and cyst of synovium, tendon, and bursa Partial Correlation (partial-r): 0.0188 [0.0046, 0.033] sex, age, birth date, deprivation index, 16 PCs
PPM009918 PSS009130|
European Ancestry|
3,909 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Ganglion and cyst of synovium, tendon, and bursa Partial Correlation (partial-r): -0.0022 [-0.0337, 0.0292] sex, age, birth date, deprivation index, 16 PCs
PPM009919 PSS008684|
European Ancestry|
6,366 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Ganglion and cyst of synovium, tendon, and bursa Partial Correlation (partial-r): -0.0003 [-0.0249, 0.0243] sex, age, birth date, deprivation index, 16 PCs
PPM009920 PSS008458|
Greater Middle Eastern Ancestry|
1,137 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Ganglion and cyst of synovium, tendon, and bursa Partial Correlation (partial-r): -0.0036 [-0.0623, 0.0551] sex, age, birth date, deprivation index, 16 PCs
PPM009921 PSS008238|
South Asian Ancestry|
5,964 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Ganglion and cyst of synovium, tendon, and bursa Partial Correlation (partial-r): 0.0056 [-0.0198, 0.031] sex, age, birth date, deprivation index, 16 PCs
PPM009922 PSS008017|
East Asian Ancestry|
1,759 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Ganglion and cyst of synovium, tendon, and bursa Partial Correlation (partial-r): -0.0128 [-0.0598, 0.0342] sex, age, birth date, deprivation index, 16 PCs
PPM009923 PSS007802|
African Ancestry|
2,358 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Ganglion and cyst of synovium, tendon, and bursa Partial Correlation (partial-r): -0.0261 [-0.0666, 0.0144] sex, age, birth date, deprivation index, 16 PCs
PPM009924 PSS008906|
African Ancestry|
3,779 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Ganglion and cyst of synovium, tendon, and bursa Partial Correlation (partial-r): 0.0184 [-0.0135, 0.0504] 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
PSS008458 1,137 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009130 3,909 individuals European Poland (NE Europe) UKB
PSS009356 18,953 individuals European UK (+ Ireland) UKB
PSS008684 6,366 individuals European Italy (South Europe) UKB
PSS008238 5,964 individuals South Asian India (South Asia) UKB
PSS008906 3,779 individuals African unspecified Nigeria (West Africa) UKB
PSS008017 1,759 individuals East Asian China (East Asia) UKB
PSS007802 2,358 individuals African American or Afro-Caribbean Carribean UKB