Abstract
Objectives. Abdominal aortic aneurysm (AAA), a disease with high mortality, is limited by the current diagnostic methods in the early screening. This study aimed to screen novel and significant biomarkers and construct a diagnostic model for AAA by using a novel machine learning method, i.e., an ensemble of the random forest (RF) algorithm and artificial neural network (ANN). Methods and Results. Through a search of the Gene Expression Omnibus (GEO) database, two large-sample gene expression datasets (GSE57691 and GSE47472) were downloaded and preprocessed. Differentially expressed genes (DEGs) in GSE57691 were identified by R software, followed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment using the Database for Annotation, Visualization, and Integrated Discovery (DAVID). Essential metabolic pathways related to positive regulation of cell death and NAD binding were found. Then, RF was used to identify key genes from the DEGs, and an AAA diagnostic model was established by ANN. A transcription factor (TF) regulatory network of key genes related to angiogenesis and endothelial migration was constructed. Finally, a validation dataset was used to validate the model and the area under the receiver operating characteristic curve (AUC) value was high. Conclusion. Potential AAA-associated gene biomarkers were identified by RF, and a novel early diagnostic model of AAA was established by ANN. The AUC indicated that the diagnostic model had a highly satisfactory diagnostic performance. In conclusion, this study will provide a promising theoretical basis for further clinical and experimental studies.
Highlights
Abdominal aortic aneurysm (AAA) is a localized dilatation of the infrarenal aorta, a permanent and irreversible enlargement of the abdominal aorta to a diameter of 3 cm or larger, exceeding the normal diameter by more than 50% [1, 2]
It is usually asymptomatic before enlargement, AAA is naturally progressive, leading to a high risk of irreversible aneurysmal growth and unpredictable rupture at any time, which leads to a high mortality rate of up to 80% [3]
The accuracy of ultrasound diagnosis depends on the operator’s experience and skill. Other factors such as the direction of the scanning plane, patient compliance, obesity, or intestinal gas accumulation can significantly affect the accuracy of ultrasound diagnosis [27]
Summary
AAA is a localized dilatation of the infrarenal aorta, a permanent and irreversible enlargement of the abdominal aorta to a diameter of 3 cm or larger, exceeding the normal diameter by more than 50% [1, 2]. It is usually asymptomatic before enlargement, AAA is naturally progressive, leading to a high risk of irreversible aneurysmal growth and unpredictable rupture at any time, which leads to a high mortality rate of up to 80% [3]. 150,000– 200,000 deaths are associated with AAA worldwide every year [4]. Diagnosis of AAA before rupture can reduce the risk of death associated with this disease. Finding therapeutic agents that can prevent AAA growth need genetic and basic science research to identify pivotal cell-signaling pathways involved [2]
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