Polygenic Score (PGS) ID: PGS002064

Predicted Trait
Reported Trait Appendiceal conditions
Mapped Trait(s) disorder of appendix (EFO_0009542)
Additional Trait Information digestive
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-ldpred2_540
Development Method
Name LDpred2 (bigsnpr)
Parameters LDpred2-auto using HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 497,422
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
PPM011374 PSS009328|
European Ancestry|
20,000 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Appendiceal conditions — — Partial Correlation (partial-r): 0.0149 [0.0011, 0.0288] sex, age, birth date, deprivation index, 16 PCs —
PPM011375 PSS009102|
European Ancestry|
4,136 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Appendiceal conditions — — Partial Correlation (partial-r): -0.0011 [-0.0317, 0.0294] sex, age, birth date, deprivation index, 16 PCs —
PPM011376 PSS008656|
European Ancestry|
6,660 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Appendiceal conditions — — Partial Correlation (partial-r): 0.0284 [0.0043, 0.0524] sex, age, birth date, deprivation index, 16 PCs —
PPM011377 PSS008430|
Greater Middle Eastern Ancestry|
1,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Appendiceal conditions — — Partial Correlation (partial-r): -0.0502 [-0.1069, 0.0069] sex, age, birth date, deprivation index, 16 PCs —
PPM011378 PSS008210|
South Asian Ancestry|
6,331 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Appendiceal conditions — — Partial Correlation (partial-r): 0.0161 [-0.0085, 0.0408] sex, age, birth date, deprivation index, 16 PCs —
PPM011379 PSS007992|
East Asian Ancestry|
1,810 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Appendiceal conditions — — Partial Correlation (partial-r): 0.0333 [-0.0131, 0.0795] sex, age, birth date, deprivation index, 16 PCs —
PPM011380 PSS007775|
African Ancestry|
2,484 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Appendiceal conditions — — Partial Correlation (partial-r): -0.0115 [-0.051, 0.028] sex, age, birth date, deprivation index, 16 PCs —
PPM011381 PSS008879|
African Ancestry|
3,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Appendiceal conditions — — Partial Correlation (partial-r): 0.0213 [-0.0101, 0.0526] 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
PSS009102 — — 4,136 individuals — European Poland (NE Europe) UKB —
PSS008430 — — 1,200 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009328 — — 20,000 individuals — European UK (+ Ireland) UKB —
PSS008656 — — 6,660 individuals — European Italy (South Europe) UKB —
PSS008210 — — 6,331 individuals — South Asian India (South Asia) UKB —
PSS008879 — — 3,924 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007992 — — 1,810 individuals — East Asian China (East Asia) UKB —
PSS007775 — — 2,484 individuals — African American or Afro-Caribbean Carribean UKB —