Table 1.
Previously unreported colorectal cancer risk associations identified by genome-wide association study analysis.
| SNP | Cytoband | Position (bp, GRCh37) | Risk/Alt Allele | RAF (EUR) | RAF (EAS) | OR (95% CI) |
P-value | I2 (%) | Closest gene (RefSeq) |
|---|---|---|---|---|---|---|---|---|---|
| rs34963268 * | 1p36.12 | 22,710,877 | G/C | 0.84 | 0.77 | 1.07 (1.05–1.09) | 6.28E-16 | 31 | ZBTB40 |
| rs5028523 | 1q24.3 | 172,864,224 | A/G | 0.53 | 0.05 | 1.04 (1.03–1.06) | 1.44E-08 | 0 | TNFSF18 |
| rs12137232 | 1q32.1 | 201,885,446 | G/T | 0.52 | 0.19 | 1.04 (1.03–1.05) | 7.71E-09 | 15 | LMOD1 |
| rs12078075 | 1q32.1 | 205,163,798 | G/A | 0.09 | 0 | 1.07 (1.05–1.10) | 1.94E-08 | 0 | DSTYK |
| rs2078095 | 1q43 | 240,408,346 | G/A | 0.28 | 0.23 | 1.04 (1.03–1.06) | 2.08E-08 | 0 | FMN2 |
| rs4668039 | 2q24.3 | 169,025,379 | G/A | 0.2 | 0.52 | 1.04 (1.03–1.06) | 3.32E-08 | 12 | STK39 |
| rs704417 | 3p14.1 | 64,252,424 | T/C | 0.51 | 0.89 | 1.05 (1.03–1.06) | 4.35E-10 | 0 | PRICKLE2 |
| rs7623129 * | 3p14.1 | 64,624,426 | C/T | 0.56 | 0.51 | 1.04 (1.02–1.05) | 1.51E-08 | 5 | ADAMTS9 |
| rs2388976 | 4q26 | 115,502,406 | A/G | 0.44 | 0.45 | 1.04 (1.02–1.05) | 1.75E-08 | 17 | UGT8 |
| rs10006803 | 4q31.3 | 151,501,208 | C/G | 0.5 | 0.45 | 1.04 (1.02–1.05) | 2.58E-08 | 0 | LRBA |
| rs1426947 | 4q34.1 | 175,420,523 | T/C | 0.42 | 0.66 | 1.04 (1.03–1.05) | 7.48E-10 | 0 | HPGD |
| rs3930345 | 5q14.3 | 82,881,255 | C/T | 0.8 | 0.75 | 1.05 (1.03–1.06) | 6.82E-09 | 10 | VCAN |
| rs472959 | 5q35.1 | 172,324,558 | A/G | 0.46 | 0.46 | 1.04 (1.03–1.05) | 4.71E-09 | 24 | ERGIC1 |
| rs1294437 | 6p25.1 | 6,749,789 | C/T | 0.65 | 0.23 | 1.04 (1.03–1.06) | 1.21E-08 | 0 | LY86 |
| rs9379084 * | 6p24.3 | 7,231,843 | G/A | 0.88 | 0.8 | 1.07 (1.05–1.09) | 1.79E-12 | 9 | RREB1 |
| rs209142 * | 6p22.1 | 28,862,617 | C/G | 0.39 | 0.52 | 1.04 (1.02–1.05) | 3.66E-08 | 20 | TRIM27 |
| rs57939401 | 6p21.1 | 45,572,071 | A/G | 0.1 | 0.13 | 1.07 (1.04–1.09) | 3.51E-10 | 0 | RUNX2 |
| rs6912214 * | 6p12.1 | 55,721,302 | T/C | 0.55 | 0.83 | 1.04 (1.03–1.05) | 1.55E-08 | 20 | BMP5 |
| rs145997965 * | 6q21 | 106,482,613 | C/T | 0.02 | 0 | 1.21 (1.13–1.29) | 1.26E-08 | 0 | PRDM1 |
| rs6911915 | 6q22.1 | 117,809,031 | C/T | 0.44 | 0.43 | 1.05 (1.03–1.06) | 3.99E-12 | 3 | DCBLD1 |
| rs151127921 | 6q23.2 | 133,993,925 | T/C | 0.02 | 0 | 1.17 (1.11–1.24) | 3.19E-08 | 24 | EYA4 |
| rs1182197 | 7p22.2 | 2,863,289 | A/C | 0.63 | 0.7 | 1.04 (1.03–1.05) | 5.32E-09 | 0 | GNA12 |
| rs12539962 | 7q11.23 | 73,167,259 | C/T | 0.72 | 0.63 | 1.04 (1.03–1.05) | 2.96E-08 | 27 | ABHD11 |
| rs2527927 | 7q22.1 | 99,477,426 | G/A | 0.55 | 0.71 | 1.04 (1.03–1.06) | 3.31E-10 | 2 | OR2AE1 |
| rs60911071 | 8p21.2 | 23,664,632 | G/C | 0.95 | 0.64 | 1.06 (1.04–1.09) | 2.24E-08 | 0 | STC1 |
| rs826732 | 8q12.1 | 59,742,639 | C/G | 0.5 | 0.59 | 1.04 (1.03–1.06) | 6.26E-10 | 7 | TOX |
| rs11557154 | 9p13.3 | 34,107,505 | T/C | 0.14 | 0.59 | 1.05 (1.04–1.07) | 6.02E-10 | 14 | DCAF12 |
| rs10978941 | 9q31.2 | 110,373,819 | C/T | 0.83 | 0.87 | 1.06 (1.04–1.08) | 2.29E-12 | 0 | KLF4 |
| rs7038489 * | 9q34.2 | 136,682,468 | C/T | 0.89 | 0.99 | 1.08 (1.05–1.1) | 1.1E-08 | 48 | VAV2 |
| rs11789898 | 9q34.2 | 136,925,663 | T/G | 0.18 | 0.08 | 1.05 (1.04–1.07) | 6.28E-09 | 36 | BRD3 |
| rs1775910 * | 10p12.1 | 29,096,942 | G/C | 0.25 | 0.32 | 1.04 (1.03–1.06) | 3.11E-08 | 17 | LOC100507605 |
| rs1773860 | 10p12.1 | 29,291,556 | T/C | 0.49 | 0.35 | 1.04 (1.03–1.05) | 3.49E-09 | 6 | LOC100507605 |
| rs10751097 | 11q13.3 | 69,938,433 | A/G | 0.4 | 0.31 | 1.05 (1.03–1.06) | 2.14E-12 | 0 | ANO1 |
| rs497916 | 11q23.3 | 118,758,089 | T/C | 0.28 | 0.17 | 1.04 (1.03–1.06) | 3.37E-08 | 0 | CXCR5 |
| rs7297628 | 12q14.2 | 64,404,555 | T/C | 0.54 | 0.75 | 1.04 (1.03–1.05) | 1.39E-08 | 30 | SRGAP1 |
| rs11178634 | 12q21.1 | 71,518,329 | G/T | 0.62 | 0.7 | 1.05 (1.03–1.06) | 1.36E-11 | 34 | TSPAN8 |
| rs7299936 * | 12q24.21 | 115,934,000 | A/G | 0.56 | 0.18 | 1.04 (1.02–1.05) | 3.73E-08 | 0 | MED13L |
| rs116964464 | 13q12.13 | 27,543,193 | T/C | 0.03 | 0.04 | 1.11 (1.07–1.15) | 4.83E-09 | 3 | USP12 |
| rs1078563 * | 13q34 | 110,352,851 | G/C | 0.33 | 0.28 | 1.04 (1.03–1.05) | 1.53E-08 | 0 | IRS2 |
| rs1497077 | 14q22.1 | 52,491,655 | C/T | 0.66 | 0.76 | 1.04 (1.03–1.06) | 3.64E-08 | 0 | NID2 |
| rs8031386 | 15q23 | 72,508,799 | A/C | 0.26 | 0.54 | 1.04 (1.03–1.06) | 4.50E-09 | 12 | PKM2 |
| rs11247566 * | 17p13.3 | 835,371 | G/A | 0.55 | 0.52 | 1.04 (1.02–1.05) | 2.92E-08 | 35 | NXN |
| rs1791373 | 18p11.31 | 3,616,779 | T/A | 0.43 | 0.14 | 1.04 (1.03–1.06) | 1.13E-08 | 0 | DLGAP1 |
| rs10409772 | 19p13.3 | 5,840,926 | A/C | 0.09 | 0.29 | 1.07 (1.05–1.09) | 1.33E-10 | 6 | FUT6 |
| rs9983528 | 21q22.3 | 47,772,439 | A/G | 0.13 | 0.24 | 1.07 (1.05–1.09) | 5.10E-13 | 0 | PCNT |
| rs4616575 | 22q12.1 | 29,406,076 | T/G | 0.52 | 0.56 | 1.04 (1.03–1.05) | 1.49E-10 | 0 | ZNRF3 |
| rs130651 | 22q13.1 | 39,644,273 | G/A | 0.33 | 0.08 | 1.05 (1.03–1.07) | 2.92E-10 | 46 | PDGFB |
| rs5751474 | 22q13.2 | 43,689,542 | A/G | 0.79 | 0 | 1.05 (1.03–1.07) | 1.80E-08 | 52 | SCUBE1 |
| rs34256596 * | 22q13.2 | 43,778,431 | A/G | 0.26 | 0.4 | 1.05 (1.03–1.06) | 5.86E-09 | 0 | MPPED1 |
| rs9330814 * | 22q13.31 | 46,364,191 | T/C | 0.33 | 0.68 | 1.05 (1.03–1.07) | 1.28E-09 | 33 | WNT7B |
P-values calculated from a fixed-effects meta-analysis
*
conditional SNP association, with P-values and ORs derived from analysis conditional on known risk loci within 1Mb; RAF, risk allele frequency; EUR, European ancestry population; EAS, East Asian ancestry population; OR, odds ratio; I2, fraction of variance attributable to between study heterogeneity; bp, base pairs. Association statistics for European and East Asian populations are detailed in Supplementary Table 3.