Polygenic Score (PGS) ID: PGS002092

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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Score Details

Score Construction
PGS Name portability-ldpred2_728.71
Development Method
Name LDpred2 (bigsnpr)
Parameters LDpred2-auto using HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 484,484
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
PPM011593 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): 0.0797 [0.0655, 0.0938] sex, age, birth date, deprivation index, 16 PCs —
PPM011594 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): 0.1036 [0.0724, 0.1346] sex, age, birth date, deprivation index, 16 PCs —
PPM011596 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): 0.045 [-0.0139, 0.1035] sex, age, birth date, deprivation index, 16 PCs —
PPM011597 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): 0.0315 [0.0061, 0.057] sex, age, birth date, deprivation index, 16 PCs —
PPM011598 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): -0.0255 [-0.0661, 0.0153] sex, age, birth date, deprivation index, 16 PCs —
PPM011599 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): 0.0031 [-0.0291, 0.0353] sex, age, birth date, deprivation index, 16 PCs —
PPM011595 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): 0.0817 [0.0572, 0.1061] 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 —
PSS008907 — — 3,732 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008239 — — 5,940 individuals — South Asian India (South Asia) UKB —
PSS008685 — — 6,356 individuals — European Italy (South Europe) UKB —
PSS007803 — — 2,335 individuals — African American or Afro-Caribbean Carribean UKB —