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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  MYH11 ,  FBN1 , and  ACTA2  were consistent with previous studies, while  MLX ,  DAB2IP ,  EP300 ,  ZFYVE9 ,  PML , and  PRKCD  were newly identified as candidate aortic dissection-associated genes.Conclusion   The pathogenic and likely pathogenic variants in most of AD-associated genes ( FBN1 ,  MYH11 ,  EFEMP2 ,  TGFBR2 ,  FBN2 ,  COL3A1 , and  MYLK ) were identified in our cohort study, and pathogenic CNVs involved in  MYH11 ,  COL  family, and  FBN  were also identified which are not detectable by other NGS analysis. The correlation between  MLX ,  DAB2IP ,  EP300 ,  ZFYVE9 ,  PML ,  PRKCD , and aortic dissection was identified, and  EP300  may play a key role in AD.

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