99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population.

Background: In this study, the whole exome sequencing in human aortic dissection, a highly lethal cardiovascular disease, was investigated to explore the aortic dissection-associated genes and variants in Chinese population.

Methods: Whole exome sequencing was performed in 99 cases of aortic dissection. All single nucleotide polymorphisms (SNPs), insertions/deletions (InDels), and copy number variations (CNVs) were filtered to exclude the benign variants. Enrichment analysis and disease-gene correlation analysis were performed.

Results: 3425873 SNPs, 685245 InDels, and 1177 CNVs were identified, and aortic dissection-associated SNPs, InDels, and CNVs were collected. After the disease correlation analysis, 20 candidate genes were identified. Part of these genes such as , , and were consistent with previous studies, while , , , , , and were newly identified as candidate aortic dissection-associated genes.

Conclusion: The pathogenic and likely pathogenic variants in most of AD-associated genes (, , , , , , and ) were identified in our cohort study, and pathogenic CNVs involved in , family, and were also identified which are not detectable by other NGS analysis. The correlation between , , , , , , and aortic dissection was identified, and may play a key role in AD.