Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis.

ABSTRACT:

Background

The left ventricular outflow tract (LVOT) and ascending aorta are spatially complex, with distinct pathologies and embryologic origins. Prior work examined the genetics of thoracic aortic diameter in a single plane.

Objectives

We sought to elucidate the genetic basis for the diameter of the LVOT, aortic root, and ascending aorta.

Methods

Using deep learning, we analyzed 2.3 million cardiac magnetic resonance images from 43,317 UK Biobank participants. We computed the diameters of the LVOT, the aortic root, and at 6 locations of ascending aorta. For each diameter, we conducted a genome-wide association study and generated a polygenic score. Finally, we investigated associations between these scores and disease incidence.

Results

A total of 79 loci wer

SUBMITTER: Nekoui M 

PROVIDER: S-EPMC11216157 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature