Genetic variants in patients with multiple arterial aneurysms.

ABSTRACT:

Purpose

The aim of this study was to identify causal genetic variants in patients with multiple arterial aneurysms.

Methods

From a total cohort of 3107 patients diagnosed with an arterial aneurysm from 2006 to 2016, patients with known hereditary connective tissue diseases, vasculitis, or other arterial pathologies (n = 918) were excluded. Of the remaining cohort (n = 2189), patients with at least 4 aneurysms at different arterial locations (n = 143) were included. Nine blood samples of respective patients were available and derived from the institutional vascular biomaterial bank, and analyzed by whole exome sequencing (WES). Possible candidate variants were selected based on in silico predictions: (I) Truncating variants or (II) Variants that were classified as likely path

SUBMITTER: Korfer D 

PROVIDER: S-EPMC11464538 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature