Region-specific gene expression and sex inform about disease susceptibility in the aorta.

ABSTRACT: Pathology in large vessels frequently develops at specific locations, implying that local stressors and spatially restricted gene expression are likely contributors to disease susceptibility. Here we perform single-cell transcriptomics in the carotids, the aortic arch and the thoracic and abdominal aorta to identify site- and sex-specific differences that could inform about vulnerability. Our findings revealed (1) regionally defined transcriptional profiles, (2) signatures associated with embryonic origins and (3) differential contributions of sex-specific effectors. Furthermore, cross-referencing regional-specific signatures with available genome-wide association study and expression quantitative trait loci databases identified 339 disease candidates associated with aorta distensibility,

SUBMITTER: Romay MC 

PROVIDER: S-EPMC12436160 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature