Leveraging cell-type-specific regulatory networks to interpret genetic variants in abdominal aortic aneurysm
Shining Ma, Xi Chen, Xiang Zhu, Philip S. Tsao, Wing Hung Wong
Abstract
family of transcription factors in AAA disease. The analysis of regulatory elements that contain noncoding variants and also are differentially open between AAA patients and controls revealed the significance of the interleukin-6-mediated signaling pathway. This finding was further validated by including information from the deleteriousness effect of nonsynonymous single-nucleotide variants in AAA patients and additional control data from the Medical Genome Reference Bank dataset. These results shed important insights into AAA pathogenesis and provide a model for cell-type-specific analysis of disease-associated variants.
Topics & Concepts
BiologyCell typeGeneDiseaseCellGeneticsAbdominal aortic aneurysmGene regulatory networkComputational biologyGene expressionAneurysmPathologyMedicineSurgeryAortic aneurysm repair treatmentsAortic Disease and Treatment Approaches