Characteristics of study populations
| Cohort | Source | Platform | Number of samples | Male | Age (mean±SD) | Drinking status | ||
| Nondrinker | Light drinker | Heavy drinker | ||||||
| Screening stage | ||||||||
| Case | ||||||||
| Colorectal cancer | BioBank Japan | Illumina HumanHap 610k | 1583 | 60.83% | 58.37±10.91 | 53.38% | 25.65% | 20.97% |
| Colon cancer | BioBank Japan | Illumina HumanHap 610k | 1025 | 58.44% | 59.33±11.20 | 55.51% | 23.90% | 20.59% |
| Proximal colon cancer | BioBank Japan | Illumina HumanHap 610k | 410 | 54.15% | 60.79±11.75 | 60.24% | 22.44% | 17.32% |
| Distal colon cancer | BioBank Japan | Illumina HumanHap 610k | 579 | 60.97% | 58.07±10.49 | 52.68% | 24.70% | 22.62% |
| Rectal cancer | BioBank Japan | Illumina HumanHap 610k | 497 | 63.98% | 55.78±9.82 | 50.10% | 28.37% | 21.53% |
| Control | Midosuji Rotary Club and BioBank Japan | Illumina HumanHap 550k | 1898 | 63.78% | 52.49±14.38 | 52.50% | 34.37% | 13.13% |
| First replication | ||||||||
| Case | ||||||||
| Colorectal cancer | BioBank Japan | Invader assay | 3099 | 63.52% | 66.77±8.76 | 59.57% | 24.07% | 16.36% |
| Colon cancer | BioBank Japan | Invader assay | 1618 | 62.16% | 67.64±8.55 | 60.19% | 24.42% | 15.39% |
| Proximal colon cancer | BioBank Japan | Invader assay | 737 | 58.61% | 68.90±8.72 | 63.31% | 23.03% | 13.66% |
| Distal colon cancer | BioBank Japan | Invader assay | 848 | 64.62% | 66.62±8.25 | 57.06% | 25.84% | 17.10% |
| Rectal cancer | BioBank Japan | Invader assay | 869 | 66.55% | 65.85±8.28 | 57.29% | 25.79% | 16.92% |
| Control | BioBank Japan | Illumina HumanHap 610k | 1777 | 76.14% | 60.56±10.33 | 57.45% | 27.35% | 15.20% |
| Second replication | ||||||||
| Case | ||||||||
| Colorectal cancer | BioBank Japan | Invader assay | 1485 | 64.75% | 67.39±9.92 | 61.62% | 20.52% | 17.86% |
| Colon cancer | BioBank Japan | Invader assay | 854 | 63.58% | 68.18±9.63 | 62.11% | 20.91% | 16.98% |
| Proximal colon cancer | BioBank Japan | Invader assay | 355 | 58.31% | 69.01±9.95 | 66.47% | 19.20% | 14.33% |
| Distal colon cancer | BioBank Japan | Invader assay | 489 | 66.67% | 67.52±9.35 | 58.59% | 22.57% | 18.84% |
| Rectal cancer | BioBank Japan | Invader assay | 402 | 67.00% | 66.46±9.62 | 62.56% | 18.85% | 18.59% |
| Control | BioBank Japan | Illumina HumanHap 610k | 819 | 74.11% | 68.58±11.01 | 59.95% | 21.86% | 18.19% |
| Third replication | ||||||||
| Case | ||||||||
| Distal colon cancer | Seoul National Univ | TaqMan Genotyping System | 225 | 65.33% | 58.80±12.90 | |||
| Control | Seoul National Univ | TaqMan Genotyping System | 377 | 66.84% | 56.73±10.90 | |||
CRC patients were categorised into two main groups (colon and rectal cancers) according to the tumour location. For the colon cancer, we further categorised into proximal colon (caecum, ascending colon, and transverse colon) and distal colon (descending colon, and sigmoid colon) cancers. The control samples from BioBank Japan consisted of the individuals with diseases other than cancer. Third replication samples derived from Korea consisted of distal colon cancer patients and healthy controls.