A network-based, integrative approach to identify genes with aberrant co-methylation in colorectal cancer

Mol Biosyst. 2014 Feb;10(2):180-90. doi: 10.1039/c3mb70270g.

Abstract

Epigenetic changes, including aberrations in DNA methylation, are a common hallmark of many cancers. The identification and interpretation of epigenetic changes associated with cancers may benefit from integration with protein interactomes. Based on the assumption that genes implicated in a specific tumor phenotype will show high aberrant co-methylation patterns with their interacting partners, we propose an integrated approach to uncover cancer-associated genes by integrating a DNA methylome with an interactome. Aberrant co-methylated interactions were first identified in the specific cancer, and genes were then prioritized based on their enrichment in aberrant co-methylation. By applying this to a large-scale colorectal cancer (CRC) dataset, the proposed method increases the power to capture known genes. More importantly, genes possessing high aberrant co-methylation patterns, located at the topological center of the original protein-protein interaction network (PPIN), affect several cancer-associated pathways and form hotspots that are frequently hijacked in cancer. Additionally, the top-ranked candidate genes may also be useful as an indicator of CRC diagnosis and prognosis. Five fold cross-validation of the top-ranked genes in diagnosis reveals that it can achieve an area under the receiver operating characteristic (ROC) curve ranging from 82.2% to 98.4% in three independent datasets. Five of these genes form a core repressive module. CCNA1 and ESR1 in particular are evidently silenced by promoter hypermethylation in CRC cell lines and tissues, whose re-expression markedly suppresses tumor cell survival and clonogenicity. These results show that the network-centric method could identify novel disease biomarkers and model how oncogenic lesions mediate epigenetic changes, providing important insights into tumorigenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line, Tumor
  • Cell Survival
  • Colorectal Neoplasms / diagnosis*
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Cyclin A1 / genetics*
  • Cyclin A1 / metabolism
  • DNA Methylation*
  • Epigenesis, Genetic
  • Estrogen Receptor alpha / genetics*
  • Estrogen Receptor alpha / metabolism
  • Gene Silencing
  • Genome, Human
  • Genomics / methods*
  • HCT116 Cells
  • HT29 Cells
  • Humans
  • Promoter Regions, Genetic
  • Reproducibility of Results

Substances

  • CCNA1 protein, human
  • Cyclin A1
  • ESR1 protein, human
  • Estrogen Receptor alpha