Abstract: OBJECTIVE: To understand the potential functions,signaling pathways and expression correlation of copy number variants related genes in esophageal adenocarcinoma. METHODS: From three references applying genome-wide association studies to analyze large scale clinical sample of esophageal adenocarcinoma,120 copy number variants related genes were collected for bioinformatics analysis,including gene function enrichment,construction of protein-protein interaction network,clustering of expression profile and expression correlation. RESULTS: The result of functional enrichment based on Gene Ontology showed that the most significant function of copy number variants related genes in esophageal adenocarcinoma is the “regulation of transcription”. Pathway enrichment result found the pathway involved largest number of genes is “Pathway in cancer”. Protein-protein interaction network for copy number variants related genes contained 3 356 nodes and 63 474 edges. The network characterized scale-free. Using a public esophageal adenocarcinoma expression profile,the clustering of these genes can almost distinguish esophageal adenocarcinoma and normal esophageal tissue. These genes also showed significant expression correlation in esophageal adenocarcinoma. CONCLUSION: The bioinformatics analyses of copy number variants related genes in esophageal adenocarcinoma provided for a solid foundation for future experimental validation of these genes in the development of esophageal adenocarcinoma.

Key words: esophageal adenocarcinoma, copy number variants related genes, function enrichment, expression correlation