Table 1.
Association of colorectal cancer risk with the top four risk variants identified in East Asian samples
| SNP (alleles)a | Chr. (gene)b | Location (bp)c | Stage | Cases
|
Controls
|
Per-allele association
|
Heterogeneity
|
||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Sample size | MAF | Sample size | MAF | OR (95% CI)d | Ptrend | Pe | I2 | ||||
| rs10774214 (T/C) | 12p13.32 (CCND2) | 4,238,613 | GWAS | 2,098 | 0.373 | 5,749 | 0.348 | 1.20 (1.09–1.32) | 2.03×10−4 | ||
| Replication | 5,197 | 0.381 | 5,797 | 0.355 | 1.16 (1.09–1.23) | 5.80×10−7 | |||||
| Overall | 7,295 | 0.379 | 11,546 | 0.352 | 1.17 (1.11–1.23) | 5.48×10−10 | 0.615 | 0% | |||
| rs647161 (A/C) | 5q31.1 (PITX1) | 134,526,991 | GWAS | 2,098 | 0.353 | 5,749 | 0.308 | 1.22 (1.12–1.33) | 3.29×10−6 | ||
| Replication | 5,217 | 0.344 | 5,815 | 0.319 | 1.14 (1.07–1.21) | 1.15×10−5 | |||||
| Overall | 7,315 | 0.347 | 11,564 | 0.313 | 1.17 (1.11–1.22) | 3.77×10−10 | 0.444 | 0% | |||
| rs2423279 (C/T) | 20p12.3 (HAO1) | 7,760,350 | GWAS | 2,098 | 0.339 | 5,749 | 0.307 | 1.16 (1.07–1.26) | 4.96×10−4 | ||
| Replication | 5,227 | 0.315 | 5,811 | 0.297 | 1.13 (1.06–1.19) | 1.22×10−4 | |||||
| Overall | 7,325 | 0.322 | 11,560 | 0.302 | 1.14 (1.08–1.19) | 2.29×10−7 | 0.331 | 12% | |||
| rs1665650 (T/C) | 10q26.12 (HSPA12A) | 118,477,090 | GWAS | 2,098 | 0.346 | 5,749 | 0.310 | 1.20 (1.10–1.31) | 3.88×10−5 | ||
| Replication | 5,192 | 0.328 | 5,808 | 0.320 | 1.10 (1.04–1.17) | 0.0018 | |||||
| Overall | 7,290 | 0.333 | 11,557 | 0.315 | 1.13 (1.08–1.19) | 8.58×10−7 | 0.404 | 4% | |||
Abbreviations: Chr., Chromosome; MAF, minor allele frequency; OR, odds ratio; CI, confidence interval.
a
Minor/major allele for East Asians, OR was estimated for the minor allele.
b
The closest gene.
c
Location based on NCBI Human Genome Build 36.3.
d
Adjusted for age, sex, the first ten principal components (Stage 1) and study site.
e
P for heterogeneity across studies in GWAS and Replication was calculated using a Cochran’s Q test.