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, Ben... jamin EJ, Lindsay ME, Ellinor PT.Show more
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
List of ancestries includes:
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Not Reported

PGS Developed By This Publication

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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 diameteraortic measurement1,111,632
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004927/ScoringFiles/PGS004927.txt.gz
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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.

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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
PPM021712PGS004927
(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 diameterβ: 1.062 [0.981, 1.144]—R²: 0.12862—Linear regression
PPM021713PGS004927
(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, dias... tolic blood pressure, and a history of hypertension, diabetes, and hyperlipidemia)Show moreLinear regression of combined score (PGS + clinical covariates)
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Evaluated Samples

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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 yearsEuropean—UKBUK Biobank imaging participants, validation set
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