Abstract
Genome-wide association studies have identified many risk loci associated with colorectal cancer. Strategies integrating biological data sets with GWAS results will provide insights into the roles of risk single-nucleotide polymorphisms. We performed expression quantitative trait locus-based analyses using the information provided in The Cancer Genome Atlas. Analysis of the cis-expression quantitative trait loci (eQTLs) of 18 previously reported colorectal cancer risk loci resulted in the discovery of five variants that were significantly associated with gene expressions. Analysis of the trans-eQTLs identified three risk loci that affect the expression levels of a neighboring transcription factor, MYC. These findings provide a more comprehensive picture of gene expression determinants in colorectal cancer and insights into the underlying biology of risk loci.
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Acknowledgment
The authors thank Qinghua Cui and Chengxiang Qiu for the assistance on statistical analysis.
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This study was supported by the National Natural Science Foundation of China (item no. 81372291) and (item no. 81372290).
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Jizhun zhang and Jiang Kewei own equal first authorship.
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Table S1
Summary of 50 colorectal cancer GWAS risk alleles obtained from the National Human Genome Research Institute (XLS 38 kb)
Table S2
Clinical and pathologic data of 146 patients from whom both colorectal tumor expression profiles and matched germline genotype data were available (DOCX 16.3 kb)
Table S3
From the 18 risk SNP loci, we obtained 191 unique SNP gene pairs (XLSX 11.9 kb)
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Zhang, J., Jiang, K., Shen, Z. et al. Expression QTL-based analyses reveal the mechanisms underlying colorectal cancer predisposition. Tumor Biol. 35, 12607–12611 (2014). https://doi.org/10.1007/s13277-014-2583-8
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DOI: https://doi.org/10.1007/s13277-014-2583-8