Shared Polygenic Architecture Across Arteriopathies: An Integrative Cross-Trait Analysis

The study examined the genetic architecture of five arteriopathies: cervical artery dissection, intracranial aneurysm, spontaneous coronary artery dissection, aortic aneurysm, and fibromuscular dysplasia. Using genetic analyses, significant genetic correlations were identified between these conditions, with the strongest correlation between cervical artery dissection and spontaneous coronary artery dissection (0.64). The research identified 37 shared genetic loci and two novel loci for cervical artery dissection and spontaneous coronary artery dissection. Analyses revealed 67 circulating proteins associated with these conditions and 204 tissue-specific signals. The discovered genetic variants are linked to vascular development, smooth muscle cell function, and extracellular matrix organization. The findings indicate a shared genetic basis among anatomically distinct arteriopathies.