Polygenic Score (PGS) ID: PGS001880

Predicted Trait
Reported Trait Contracture of palmar fascia [Dupuytren's disease]
Mapped Trait(s) Dupuytren Contracture (EFO_0004229)
Additional Trait Information musculoskeletal
Released in PGS Catalog: Jan. 10, 2022
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PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name portability-PLR_728.71
Development Method
Name Penalized regression (bigstatsr)
Parameters HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 2,443
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: 42.9%
African: 28.6%
Greater Middle Eastern: 14.3%
South Asian: 14.3%
7 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
PPM009925 PSS009357|
European Ancestry|
18,971 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0783 [0.0641, 0.0924] sex, age, birth date, deprivation index, 16 PCs
PPM009926 PSS009131|
European Ancestry|
3,900 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.1046 [0.0734, 0.1357] sex, age, birth date, deprivation index, 16 PCs
PPM009927 PSS008685|
European Ancestry|
6,356 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.076 [0.0514, 0.1004] sex, age, birth date, deprivation index, 16 PCs
PPM009928 PSS008459|
Greater Middle Eastern Ancestry|
1,131 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0428 [-0.016, 0.1014] sex, age, birth date, deprivation index, 16 PCs
PPM009930 PSS007803|
African Ancestry|
2,335 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): -0.0262 [-0.0669, 0.0145] sex, age, birth date, deprivation index, 16 PCs
PPM009931 PSS008907|
African Ancestry|
3,732 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): -0.0009 [-0.0331, 0.0312] sex, age, birth date, deprivation index, 16 PCs
PPM009929 PSS008239|
South Asian Ancestry|
5,940 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0269 [0.0014, 0.0524] 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
PSS008459 1,131 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009131 3,900 individuals European Poland (NE Europe) UKB
PSS009357 18,971 individuals European UK (+ Ireland) UKB
PSS008685 6,356 individuals European Italy (South Europe) UKB
PSS008907 3,732 individuals African unspecified Nigeria (West Africa) UKB
PSS008239 5,940 individuals South Asian India (South Asia) UKB
PSS007803 2,335 individuals African American or Afro-Caribbean Carribean UKB