Polygenic Score (PGS) ID: PGS002040

Predicted Trait
Reported Trait Retinal detachments and defects
Mapped Trait(s) retinal detachment (EFO_0005773)
Additional Trait Information sense organs
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-ldpred2_361
Development Method
Name LDpred2 (bigsnpr)
Parameters LDpred2-auto using HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 706,872
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
PPM011186 PSS009303|
European Ancestry|
19,445 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0276 [0.0135, 0.0416] sex, age, birth date, deprivation index, 16 PCs —
PPM011187 PSS009077|
European Ancestry|
4,055 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0184 [-0.0125, 0.0492] sex, age, birth date, deprivation index, 16 PCs —
PPM011188 PSS008631|
European Ancestry|
6,514 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0125 [-0.0119, 0.0368] sex, age, birth date, deprivation index, 16 PCs —
PPM011189 PSS008405|
Greater Middle Eastern Ancestry|
1,169 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): -0.0028 [-0.0607, 0.055] sex, age, birth date, deprivation index, 16 PCs —
PPM011190 PSS008185|
South Asian Ancestry|
6,095 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0276 [0.0024, 0.0527] sex, age, birth date, deprivation index, 16 PCs —
PPM011191 PSS007969|
East Asian Ancestry|
1,773 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0368 [-0.0101, 0.0835] sex, age, birth date, deprivation index, 16 PCs —
PPM011192 PSS007751|
African Ancestry|
2,384 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0222 [-0.0181, 0.0625] sex, age, birth date, deprivation index, 16 PCs —
PPM011193 PSS008855|
African Ancestry|
3,743 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Retinal detachments and defects — — Partial Correlation (partial-r): 0.0024 [-0.0297, 0.0345] 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
PSS007751 — — 2,384 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009077 — — 4,055 individuals — European Poland (NE Europe) UKB —
PSS008405 — — 1,169 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009303 — — 19,445 individuals — European UK (+ Ireland) UKB —
PSS008631 — — 6,514 individuals — European Italy (South Europe) UKB —
PSS008185 — — 6,095 individuals — South Asian India (South Asia) UKB —
PSS008855 — — 3,743 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007969 — — 1,773 individuals — East Asian China (East Asia) UKB —