Polygenic Score (PGS) ID: PGS001824

Predicted Trait
Reported Trait Disorders of bilirubin excretion
Mapped Trait(s) Disorder of bilirubin metabolism and excretion (Orphanet_309816)
Additional Trait Information endocrine/metabolic
Released in PGS Catalog: Jan. 10, 2022
Download Score FTP directory
Terms and Licenses
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_277.4
Development Method
Name Penalized regression (bigstatsr)
Parameters HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 22
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
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
391,124 individuals European UK (+ Ireland) UKB

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
PPM009490 PSS009294|
European Ancestry|
19,924 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Disorders of bilirubin excretion Partial Correlation (partial-r): 0.0716 [0.0577, 0.0854] sex, age, birth date, deprivation index, 16 PCs
PPM009491 PSS009068|
European Ancestry|
4,126 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Disorders of bilirubin excretion Partial Correlation (partial-r): 0.0565 [0.026, 0.087] sex, age, birth date, deprivation index, 16 PCs
PPM009492 PSS008622|
European Ancestry|
6,636 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Disorders of bilirubin excretion Partial Correlation (partial-r): 0.0696 [0.0455, 0.0935] sex, age, birth date, deprivation index, 16 PCs
PPM009493 PSS008397|
Greater Middle Eastern Ancestry|
1,196 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Disorders of bilirubin excretion Partial Correlation (partial-r): -0.0314 [-0.0885, 0.0258] sex, age, birth date, deprivation index, 16 PCs
PPM009494 PSS008176|
South Asian Ancestry|
6,292 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Disorders of bilirubin excretion Partial Correlation (partial-r): 0.0243 sex, age, birth date, deprivation index, 16 PCs
PPM009495 PSS007743|
African Ancestry|
2,472 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Disorders of bilirubin excretion Partial Correlation (partial-r): 0.002 [-0.0376, 0.0416] sex, age, birth date, deprivation index, 16 PCs
PPM009496 PSS008847|
African Ancestry|
3,901 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Disorders of bilirubin excretion Partial Correlation (partial-r): 0.0014 [-0.0301, 0.0328] 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
PSS009068 4,126 individuals European Poland (NE Europe) UKB
PSS008397 1,196 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS008622 6,636 individuals European Italy (South Europe) UKB
PSS009294 19,924 individuals European UK (+ Ireland) UKB
PSS008176 6,292 individuals South Asian India (South Asia) UKB
PSS008847 3,901 individuals African unspecified Nigeria (West Africa) UKB
PSS007743 2,472 individuals African American or Afro-Caribbean Carribean UKB