Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4.

ABSTRACT: Genome-wide association studies have highlighted three major lung cancer susceptibility regions at 15q25.1, 5p15.33 and 6p21.33. To gain insight into the possible mechanistic relevance of the genes in these regions, we investigated the regulation of candidate susceptibility gene expression by epigenetic alterations in healthy and lung tumor tissues. For genes up or downregulated in lung tumors, the influence of genetic variants on DNA methylation was investigated and in vitro studies were performed. We analyzed 394 CpG units within 19 CpG islands in the susceptibility regions in a screening set of 34 patients. Significant findings were validated in an independent patient set (n=50) with available DNA and RNA. The most consistent overall DNA methylation difference between tumor and adjacent

SUBMITTER: Scherf DB 

PROVIDER: S-EPMC3710305 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature