Exome sequencing reveals new insights into the progression of abdominal aortic aneurysm

S.-m. Wang, G. Zhao, L. Peng, W. Yang

Department of Vascular Surgery, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China. winwsm@126.com

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• Angiology

BACKGROUND: Abdominal aortic aneurysm (AAA) is a multi-factorial disease and its underlying pathogenesis remains poorly understood.

AIM: We aim to search for the underlying etiology of AAA using whole exome sequencing and gene expression analysis.

MATERIALS AND METHODS: We performed whole exome sequencing for AAA and adjacent normal abdominal aorta tissue from one male AAA patient. Further gene expression analysis using downloaded dataset from the GEO database was also carried out to explore the underlying molecular mechanisms.

RESULTS: A total of 5.97 Gb clean data were generated for the two samples, achieving a mean depth of coverage of 31.96 and 32.88 for the AAA and normal samples, respectively. We identified 203 somatic variants and confirmed 34 protein-altering somatic mutations in 25 genes. Among the confirmed variants, 11 mutations were not reported in the dbSNP database before. According to the literature review, none of these 25 genes were reportedly associated with AAA.

CONCLUSIONS: Our findings here may provide potential targets for effective prevention of human AAA development and progression.

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