Cardiac Imaging of Aortic Valve Area From 34 287 UK Biobank Participants Reveals Novel Genetic Associations and Shared Genetic Comorbidity With Multiple Disease Phenotypes.

ABSTRACT:

Background

The aortic valve is an important determinant of cardiovascular physiology and anatomic location of common human diseases.

Methods

From a sample of 34 287 white British ancestry participants, we estimated functional aortic valve area by planimetry from prospectively obtained cardiac magnetic resonance imaging sequences of the aortic valve. Aortic valve area measurements were submitted to genome-wide association testing, followed by polygenic risk scoring and phenome-wide screening, to identify genetic comorbidities.

Results

A genome-wide association study of aortic valve area in these UK Biobank participants showed 3 significant associations, indexed by rs71190365 (chr13:50764607, DLEU1, P=1.8×10^-9), rs35991305 (chr12:94191968, CR

SUBMITTER: Cordova-Palomera A 

PROVIDER: S-EPMC12184884 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature