PGS Publication: PGP000663

Publication Information (EuropePMC)
Title The AORTA Gene score for detection and risk stratification of ascending aortic dilation.
PubMed ID 39132911(Europe PMC)
doi 10.1093/eurheartj/ehae474
Publication Date Aug. 12, 2024
Journal Eur Heart J
Author(s) Pirruccello JP, Khurshid S, Lin H, Weng LC, Zamirpour S, Kany S, Raghavan A, Koyama S, Vasan RS, Benjamin EJ, Lindsay ME, Ellinor PT.
Released in PGS Catalog: Aug. 19, 2024

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS004927
(score_resint_max_aa_shortaxis_cm)
 PGP000663 |
Pirruccello JP et al. Eur Heart J (2024)
 Ascending aortic diameter aortic measurement 1,111,632
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004927/ScoringFiles/PGS004927.txt.gz

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) 		Evaluated Score 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 PGS004927
(score_resint_max_aa_shortaxis_cm)
 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 PGS004927
(score_resint_max_aa_shortaxis_cm)
 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