Table 2. Low-penetrance loci associated with colorectal-cancer risk, identified by genome-wide association studies with p<5×10-8.
| Loci | Genes * | Variants | Alleles † | MAF (%) ‡ | OR (95% CI) | P value | Ethnicity | Reference |
|---|---|---|---|---|---|---|---|---|
| 1q41 | DUSP10 | rs6691170 | T/G | 36 | 1.06 (1.03-1.09) | 9.55 × 10-10 | European | 21 |
| 1q41 | DUSP10 | rs6687758 | G/A | 20 | 1.09 (1.06-1.12) | 2.27 × 10-9 | European | 21 |
| 3q26.2 | MYNN | rs10936599 | T/C | 25 | 0.93 (0.91-0.96) | 3.39 × 10-8 | European | 21 |
| 5q31.1 | PITX1 | rs647161 | A/C | 31 | 1.11 (1.08-1.15) | 1.22 × 10-10 | Asian | 24 |
| 6p21.31 | CDKN1A | rs1321311 | A/C | 23 | 1.10 (1.07-1.13) | 1.14 × 10-10 | European | 22 |
| 6q26-q27 | SLC22A3 | rs7758229 | T/G | 22 | 1.28 (1.18-1.39) | 7.92 × 10-9 | Asian | 23 |
| 8q23.3 | EIF3H | rs16892766 | C/A | 7 | 1.25 (1.19-1.32) | 3.30 × 10-18 | European | 19 |
| 8q24.21 | MYC | rs10505477 | A/G | 51 | 1.17 (1.12-1.23) | 3.16 × 10-11 | European | 14 |
| 8q24.21 | MYC | rs6983267 | G/T | 52 | 1.21 (1.15-1.27) | 1.27 × 10-14 | European | 15 |
| 8q24.21 | MYC | rs7014346 | A/G | 37 | 1.19 (1.14-1.24) | 8.60 × 10-26 | European | 18 |
| 10p14 | FLJ3802842 | rs10795668 | A/G | 33 | 0.89 (0.86-0.91) | 2.50 × 10-13 | European | 19 |
| 11q13.4 | POLD3 | rs3824999 | A/C | 50 | 0.93 (0.91-0.95) | 3.65 × 10-10 | European | 22 |
| 11q23 | Unknown | rs3802842 | C/A | 29 | 1.11 (1.08-1.15) | 5.82 × 10-10 | European | 18 |
| 12p13.32 | CCND2 | rs10774214 | T/C | 35 | 1.09 (1.06-1.13) | 3.06 × 10-8 | Asian | 24 |
| 12q13.13 | LARP4, DIP2 | rs7136702 | T/C | 35 | 1.06 (1.04-1.08) | 4.02 × 10-8 | European | 21 |
| 12q13.3 | DIP2B, ATF1 | rs11169552 | T/C | 28 | 0.92 (0.90-0.95) | 1.89 × 10-10 | European | 21 |
| 14q22.2 | BMP4 | rs4444235 | C/T | 46 | 1.11 (1.08-1.15) | 8.10 × 10-10 | European | 20 |
| 15q13.3 | GREM1 | rs4779584 | T/C | 18 | 1.26 (1.19-1.34) | 4.44 × 10-14 | European | 17 |
| 16q22.1 | CDH1 | rs9929218 | A/G | 29 | 0.91 (0.89-0.94) | 1.20 × 10-8 | European | 20 |
| 18q21.1 | SMAD7 | rs4939827 | C/T | 48 | 0.85 (0.81-0.89) | 1.00 × 10-12 | European | 16 |
| 19q13.1 | RHPN2 | rs10411210 | T/C | 10 | 0.87 (0.83-0.91) | 4.60 × 10-9 | European | 20 |
| 20p12.3 | HAO1 | rs2423279 | C/T | 30 | 1.10 (1.06-1.14) | 6.64 × 10-9 | Asian | 24 |
| 20p12.3 | BMP2 | rs961253 | A/C | 36 | 1.12 (1.08-1.16) | 2.00 × 10-10 | European | 20 |
| 20q13.33 | LAMA5 | rs4925386 | T/C | 32 | 0.93 (0.91-0.95) | 1.89 × 10-10 | European | 21 |
| Xp22.2 | SHROOM2 | rs5934683 | T/C | 33 | 1.07 (1.04-1.10) | 7.30 × 10-10 | European | 22 |
*
Candidate gene in the locus.
†
Minor (bold)/major alleles (per initial studies).
‡
MAF=minor allele frequency in controls.