Published in

National Academy of Sciences, Proceedings of the National Academy of Sciences, 1(119), 2021

DOI: 10.1073/pnas.2115601119

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Leveraging cell-type-specific regulatory networks to interpret genetic variants in abdominal aortic aneurysm

Journal article published in 2021 by Shining Ma, Xi Chen, Xiang Zhu ORCID, Philip S. Tsao ORCID, Wing Hung Wong ORCID
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Data provided by SHERPA/RoMEO

Abstract

Significance Abdominal aortic aneurysm (AAA) is a common and severe disease with major genetic risk factors. In this study we generated enhancer-promoter contact data to identify regulatory elements in AAA-relevant cell types and identified changes in their predicted chromatin accessibility between AAA patients and controls. We integrated this information with disease-associated variants in regulatory elements and gene bodies to further understand the etiology and pathogenetic mechanisms of AAA. Our study combined whole-genome sequencing data with gene regulatory relations in disease-relevant cell types to reveal the important roles of the interleukin 6 pathway and ERG and KLF regulation in AAA pathogenesis.