Rare and Common Variants Uncover the Role of the Atria in Coarctation of the Aorta.

ABSTRACT: Coarctation of the aorta (CoA) and bicuspid aortic valve (BAV) often cooccur and are genetically linked congenital heart defects (CHD). While CoA is thought to have a hemodynamic origin from ventricular dysfunction, we provide evidence pointing to atrial hemodynamics based on investigating the genetic etiology of CoA. Previous studies have shown a rare MYH6 variant in an Icelandic cohort, and two common deletions in the protocadherin α cluster (PCDHA delCNVs) are significantly associated with CoA and BAV. Here, analysis of a non-Icelandic white CHD cohort (n = 166) recovered rare MYH6 variants in 10.9% of CoA and 32.7% of BAV/CoA patients, yielding odds ratios of 18.6 (p = 2.5 × 10^-7) and 20.5 (p = 7.4 × 10^-5) for the respecti

SUBMITTER: Zhu W 

PROVIDER: S-EPMC9032275 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature