Copy number loss Of APP cause thoracic aortic dissection.

ABSTRACT: Thoracic aortic dissection (TAD) is a leading cause of sudden cardiovascular death. Although a limited number of copy number variations (CNVs) have been reported in small cohorts of patients with hereditary TAD or sporadic aortic dissection, a comprehensive investigation and functional validation of CNVs in sporadic TAD using large-scale whole genome sequencing (WGS) data remain lacking. To address this gap, we conducted whole genome sequencing in two independent case-control studies, involving 257 patients with sporadic TAD and 132 controls. We generated gene knockout mice to explore the role of the target gene in TAD progression in vivo. Additionally, RNA-seq analysis and molecular biology experiments were performed in vitro to elucidate the underlying mechanisms. In the discovery and va

SUBMITTER: Gao Q 

PROVIDER: S-EPMC12497644 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature