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Nature Research, Nature Communications, 1(5), 2014

DOI: 10.1038/ncomms6114

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Functional annotation of colon cancer risk SNPs

Journal article published in 2014 by Lijing Yao, Yu Gyoung Tak, Benjamin P. Berman, Peggy J. Farnham ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Colorectal cancer (CRC) is a leading cause of cancer-related deaths in the United States. Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with increased risk for CRC. A molecular understanding of the functional consequences of this genetic variation has been complicated because each GWAS SNP is a surrogate for hundreds of other SNPs, most of which are located in non-coding regions. Here we use genomic and epigenomic information to test the hypothesis that the GWAS SNPs and/or correlated SNPs are in elements that regulate gene expression, and identify 23 promoters and 28 enhancers. Using gene expression data from normal and tumour cells, we identify 66 putative target genes of the risk-associated enhancers (10 of which were also identified by promoter SNPs). Employing CRISPR nucleases, we delete one risk-associated enhancer and identify genes showing altered expression. We suggest that similar studies be performed to characterize all CRC risk-associated enhancers.