Polygenic Score (PGS) ID: PGS004927

Predicted Trait
Reported Trait Ascending aortic diameter
Mapped Trait(s) aortic measurement (EFO_0020865)
Released in PGS Catalog: Aug. 19, 2024
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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 score_resint_max_aa_shortaxis_cm
Development Method
Name PRS-CS
Parameters auto
Variants
Original Genome Build GRCh38
Number of Variants 1,111,632
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000663
Citation (link to publication) Pirruccello JP et al. Eur Heart J (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
39,524 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
— 39,524 individuals,
47.0 % Male samples
 European 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
PPM021713 PSS011759|
European Ancestry|
4,394 individuals
 PGP000663 |
Pirruccello JP et al. Eur Heart J (2024)
 Reported Trait: Ascending aortic diameter — — R²: 0.39499
Beta (combined score): 0.965 [0.93, 1.0]		 Clinical covariates (age, age^2, sex, height, weight, BMI, heart rate, systolic blood pressure, diastolic blood pressure, and a history of hypertension, diabetes, and hyperlipidemia) Linear regression of combined score (PGS + clinical covariates)
PPM021712 PSS011759|
European Ancestry|
4,394 individuals
 PGP000663 |
Pirruccello JP et al. Eur Heart J (2024)
 Reported Trait: Ascending aortic diameter β: 1.062 [0.981, 1.144] — R²: 0.12862 — Linear regression

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
PSS011759 — — 4,394 individuals,
48.0 % Male samples
 Mean = 65.0 years European — UKB UK Biobank imaging participants, validation set