Table 3.
Summary of risk variants, potential regulatory roles and the likely candidate gene in each new CRC risk locus identified in this study
| SNP (Locus) | Genomic annotation | No. of genes in 1-M window | No. of correlated SNPs (r2 > 0.20) | Potential regulatory roles | The likely candidate gene | Expression difference in tumor vs. adjacent normal tissues* | Biological functions | Known roles in cancer |
|---|---|---|---|---|---|---|---|---|
| rs4711689 (6p21.1) | Intron 6 of TFEB | 43 | 17 | Promoter, enhancer | TFEB | Down-regulated | Lysosomal biogenesis and autophagy | Oncogenic transcriptional factor for some cancers |
| rs2450115 (8q23.3) | 3′ of EIF3H | 12 | 65 | Unknown | - | - | - | - |
| rs6469656 (8q23.3) | 3′ of EIF3H | 13 | 125 | Promoter, enhancer | EIF3H | Up-regulated | Translational initiation | Promotion of protein synthesis and cancer cell proliferation |
| rs4919687 (10q24.3) | Intron 1 of CYP17A1 | 40 | 412 | Promoter, enhancer | CYP17A1 | N/A | Steroid biogenesis | Modification of hormone level |
| rs11064437 (12p13.3) | Splice receptor at intron 1 of SPSB2 | 79 | 108 | Promoter, enhancer | SPSB2 | Up-regulated | Proteasomal degradation | Less known |
| rs6061231 (20q13.3) | 5′ flanking of RPS21 | 52 | 126 | Promoter, enhancer | RPS21 | Up-regulated | Ribosome biogenesis | Potential cancer driver for CRC |
*
The expression of each gene was evaluated in paired tumor and adjacent normal colorectal mucosal samples from 188 East Asian patients.