Aortic root aneurysm is a potentially life-threatening condition as it may lead to dissection or rupture. However, a single-nucleus transcriptomic and epigenomic landscape in the aortic root tissue of humans is lacking and the regulatory mechanism of pathogenesis in the aneurysmal aortic root of human Marfan syndrome (MFS) remains elusive. Here, through an integrative analysis of single-nucleus multiomic (gene expression and chromatin accessibility) and spatial transcriptomic sequencing data of human aortic root tissue under healthy and MFS conditions, we present the first atlas of gene expression and chromatin accessibility in human aortic root tissue at single-nucleus and spatial resolution. The regulatory and spatial dynamics during the phenotypic modulation of vascular smooth muscle cells (VSMCs) were uncovered. Our dataset is expected to additionally provide a valuable reference to further deciphering the regulatory mechanism of MFS-associated aortic root aneurysms and interpreting the risk loci for aortic root-related diseases in humans.
Founded in 1956, Fuwai Hospital which belongs to the Chinese Academy of Medical Sciences (referred as “Fuwai Hospital”) is a national triple A, first-class hospital specializing in cardiovascular diseases. It is also theNational Center for Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, and National Clinical Research Center of Cardiovascular Diseases.It is well known internationally for treatment of all kinds of complex, difficult, and severe cardiovascular diseases, and has become the world’s largest cardiovascular center, as well as a national center for clinical healthcare, medical research, disease prevention and education.
