Table 1.
Summary results for newly identified genetic risk variants associated with colorectal cancer risk at P < 5.0 ×10−8 East-Asian descendants
| SNP | Locus | Genea | Positionb | Allelesc | EAFd | Discoverye | Replicatione | Combinede | Heterogeneity | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8,027 cases /22,577 controls | 11,044 cases/12,047controls | 19,071 cases /34,624 controls | |||||||||||
|
| |||||||||||||
| OR (95% CI)e | Pe | OR (95% CI)e | Pe | OR (95% CI)e | Pe | I2 | Pf | ||||||
| rs4711689 | 6p21.1 | TFEB | 41692812 | A/G | 0.85 | 1.12 (1.06–1.18) | 3.41×10−5 | 1.10 (1.05–1.16) | 2.89×10−4 | 1.11 (1.07–1.15) | 3.92×10−8 | 31 | 0.13 |
| rs2450115 | 8q23.3 | EIF3H | 117624093 | T/C | 0.58 | 1.11 (1.06–1.17) | 9.19×10−6 | 1.11 (1.07–1.16) | 2.94×10–8 | 1.12 (1.09–1.15) | 1.24×10−12 | 0 | 0.51 |
| rs6469656 | 8q23.3 | EIF3H | 117647788 | A/G | 0.67 | 1.12 (1.07–1.16) | 2.59×10−7 | 1.10 (1.06–1.15) | 1.55×10−6 | 1.11 (1.08–1.14) | 2.03×10−12 | 38 | 0.07 |
| rs4919687 | 10q24.3 | CYP17A1 | 104595248 | G/A | 0.80 | 1.16 (1.09–1.24) | 7.52×10−6 | 1.13 (1.08–1.19) | 1.91×10−7 | 1.14 (1.10–1.19) | 7.82×10−12 | 0 | 0.48 |
| rs10506868 | 10q25.2 | VTI1A | 114319380 | T/C | 0.28 | 1.09 (1.04–1.14) | 1.00×10−4 | 1.10 (1.05–1.14) | 9.25×10−6 | 1.10 (1.06–1.13) | 3.98×10−9 | 0 | 0.84 |
| rs11064437 | 12p13.3 | SPSB2 | 6982162 | C/T | 0.75 | 1.14 (1.09–1.20) | 2.80×10−7 | 1.10 (1.05–1.15) | 2.11×10−5 | 1.12 (1.08–1.16) | 4.48×10−11 | 52.5 | 0.03 |
| rs6061231 | 20q13.3 | RPS21 | 60956917 | C/A | 0.91 | 1.19 (1.12–1.27) | 8.56×10−8 | 1.18 (1.07–1.28) | 2.20×10−4 | 1.18 (1.13–1.25) | 8.04×10−11 | 0 | 0.47 |
EAF, effect allele frequency; OR, odds ratio; CI, confidence interval.
The closest gene.
The chromosome position (bp) is based on the National Center for Biotechnology Information (NCBI) database, build 37.
Effect/reference alleles are based on forward allele coding in NCBI, build 37. OR and 95% CI were estimated based on the effect allele (bold).
EAF in controls from all studies combined.
Summary OR (95% CI) and P were obtained from a fixed-effects meta-analysis.
P for heterogeneity across all studies was calculated using Cochran’s Q test.