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.