Polygenic Score (PGS) ID: PGS001840

Predicted Trait
Reported Trait Pulmonary heart disease
Mapped Trait(s) cor pulmonale (MONDO_0004596)
Additional Trait Information circulatory system
Released in PGS Catalog: Jan. 10, 2022
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Score Details

Score Construction
PGS Name portability-PLR_415
Development Method
Name Penalized regression (bigstatsr)
Parameters HapMap3 variants
Variants
Original Genome Build GRCh37
Number of Variants 330
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
PPM009610 PSS009312|
European Ancestry|
19,808 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0355 [0.0216, 0.0494] sex, age, birth date, deprivation index, 16 PCs —
PPM009611 PSS009086|
European Ancestry|
4,113 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0647 [0.0341, 0.0952] sex, age, birth date, deprivation index, 16 PCs —
PPM009612 PSS008640|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.038 [0.0139, 0.0621] sex, age, birth date, deprivation index, 16 PCs —
PPM009613 PSS008414|
Greater Middle Eastern Ancestry|
1,190 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): -0.0071 [-0.0643, 0.0503] sex, age, birth date, deprivation index, 16 PCs —
PPM009614 PSS008194|
South Asian Ancestry|
6,283 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.03 [0.0052, 0.0547] sex, age, birth date, deprivation index, 16 PCs —
PPM009615 PSS007976|
East Asian Ancestry|
1,805 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0109 [-0.0355, 0.0572] sex, age, birth date, deprivation index, 16 PCs —
PPM009616 PSS007759|
African Ancestry|
2,457 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0171 [-0.0226, 0.0568] sex, age, birth date, deprivation index, 16 PCs —
PPM009617 PSS008863|
African Ancestry|
3,858 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Pulmonary heart disease — — Partial Correlation (partial-r): 0.0366 [0.005, 0.0682] 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
PSS007976 — — 1,805 individuals — East Asian China (East Asia) UKB —
PSS008414 — — 1,190 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS007759 — — 2,457 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009312 — — 19,808 individuals — European UK (+ Ireland) UKB —
PSS009086 — — 4,113 individuals — European Poland (NE Europe) UKB —
PSS008863 — — 3,858 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008640 — — 6,617 individuals — European Italy (South Europe) UKB —
PSS008194 — — 6,283 individuals — South Asian India (South Asia) UKB —