The AORTA Gene score for detection and risk stratification of ascending aortic dilation.

ABSTRACT:

Background and aims

This study assessed whether a model incorporating clinical features and a polygenic score for ascending aortic diameter would improve diameter estimation and prediction of adverse thoracic aortic events over clinical features alone.

Methods

Aortic diameter estimation models were built with a 1.1 million-variant polygenic score (AORTA Gene) and without it. Models were validated internally in 4394 UK Biobank participants and externally in 5469 individuals from Mass General Brigham (MGB) Biobank, 1298 from the Framingham Heart Study (FHS), and 610 from All of Us. Model fit for adverse thoracic aortic events was compared in 401 453 UK Biobank and 164 789 All of Us participants.

Results

AORTA Gene explained more of the variance in thoracic aortic diamet

SUBMITTER: Pirruccello JP 

PROVIDER: S-EPMC11491154 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature