Polygenic Score (PGS) ID: PGS002267

Predicted Trait
Reported Trait Ascending thoracic aortic diameter
Mapped Trait(s)
Released in PGS Catalog: April 1, 2022
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Score Details

Score Construction
Development Method
Name Genome-wide significant variants
Parameters Autosomal, independently significant SNPs from the ascending aorta GWAS
Original Genome Build GRCh37
Number of Variants 89
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000296
Citation (link to publication) Pirruccello JP et al. Nat Genet (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
33,637 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 34837083
33,637 individuals 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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM012908 PSS009608|
European Ancestry|
385,621 individuals
PGP000296 |
Pirruccello JP et al. Nat Genet (2021)
Reported Trait: Incident thoracic aortic aneurysm or dissection HR: 1.43 [1.32, 1.54] Sex, prevalent diagnoses of type 2 diabetes or hypertension, tobacco smoking history (the number of pack years of tobacco smoking), body mass (the cubic natural spline of body mass index) and age (the cubic natural spline of age at enrollment).

Evaluated Samples

PGS Sample Set ID
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
PSS009608 Median = 11.2 yrs
  • 685 cases
  • , 384,936 controls
(British, Irish)