Polygenic Score (PGS) ID: PGS002032

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
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Score Details

Score Construction
PGS Name portability-ldpred2_277.4
Development Method
Name LDpred2 (bigsnpr)
Parameters LDpred2-auto using HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 19,768
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
PPM011128 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 [0.0578, 0.0854] sex, age, birth date, deprivation index, 16 PCs —
PPM011129 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): 0.0534 [0.0228, 0.0838] sex, age, birth date, deprivation index, 16 PCs —
PPM011130 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): 0.0714 [0.0474, 0.0953] sex, age, birth date, deprivation index, 16 PCs —
PPM011131 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): -0.0333 [-0.0903, 0.0239] sex, age, birth date, deprivation index, 16 PCs —
PPM011132 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): 0.0252 sex, age, birth date, deprivation index, 16 PCs —
PPM011133 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): 0.0011 [-0.0385, 0.0406] sex, age, birth date, deprivation index, 16 PCs —
PPM011134 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): -0.0017 [-0.0332, 0.0297] 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 —