Table 2. BRM promoter indels and colorectal cancer risk.
| Variable | Genotypes | Cases N (%) |
Controls N (%) |
OR (95% CI) | * P value |
|---|---|---|---|---|---|
| BRM-741 | |||||
| Co-dominant model | |||||
| Del/Del (wild-type) | 119 (27.87) | 113 (27.70) | 1 (reference) | ||
| Ins/Del | 215 (50.35) | 201 (49.26) | 1.09 (0.78, 1.52) | 0.61 | |
| Ins/Ins | 90 (21.08) | 93 (22.79) | 0.96 (0.64, 1.44) | 0.85 | |
| Unknown | 3 (0.70) | 1 (0.25) | |||
| Dominant model | |||||
| Del/Del | 119 (27.87) | 113 (27.70) | 1 (reference) | ||
| Ins/Ins + Ins/Del | 305 (71.43) | 294 (72.06) | 1.05 (0.77, 1.44) | 0.76 | |
| Unknown | 3 (0.70) | 1 (0.25) | |||
| Recessive model | |||||
| Ins/Del + Del/Del | 334 (78.22) | 314 (76.96) | 1 (reference) | ||
| Ins/Ins | 90 (21.08) | 93 (22.79) | 0.91 (0.65, 1.28) | 0.59 | |
| Unknown | 3 (0.70) | 1 (0.25) | |||
| † Additive model | |||||
| Del/Del | 119 (27.87) | 113 (27.70) | 0.99 (0.81, 1.21) | 0.90 | |
| Ins/Del | 215 (50.35) | 201 (49.26) | |||
| Ins/Ins | 90 (21.08) | 93 (22.79) | |||
| Unknown | 3 (0.70) | 1 (0.25) | |||
| BRM-1321 | |||||
| Co-dominant model | |||||
| Del/Del (wild-type) | 136 (31.85) | 135 (33.09) | 1 (reference) | ||
| Ins/Del | 213 (49.88) | 188 (46.08) | 1.20 (0.87, 1.65) | 0.27 | |
| Ins/Ins | 76 (17.80) | 84 (20.59) | 0.93 (0.62, 1.39) | 0.73 | |
| Unknown | 2 (0.47) | 1 (0.25) | |||
| Dominant model | |||||
| Del/Del | 136 (31.85) | 135 (33.09) | 1 (reference) | ||
| Ins/Ins + Ins/Del | 289 (67.68) | 272 (66.67) | 1.11 (0.83, 1.51) | 0.48 | |
| Unknown | 2 (0.47) | 1 (0.25) | |||
| Recessive model | |||||
| Ins/Del + Del/Del | 349 (81.73) | 323 (79.17) | 1 (reference) | ||
| Ins/Ins | 76 (17.80) | 84 (20.59) | 0.84 (0.58, 1.19) | 0.32 | |
| Unknown | 2 (0.47) | 1 (0.25) | |||
| † Additive model | |||||
| Del/Del | 136 (31.85) | 135 (33.09) | 0.99 (0.81, 1.21) | 0.93 | |
| Ins/Del | 213 (49.88) | 188 (46.08) | |||
| Ins/Ins | 76 (17.80) | 84 (20.59) | |||
| Unknown | 2 (0.47) | 1 (0.25) | |||
|
‡
BRM-741 and BRM-1321 genotype combinations |
|||||
| Category A. | |||||
| Double wild-type genotype | 73 (17.10) | 81 (19.85) | 1 (reference) | ||
| No homozygous variant genotype | 223 (52.22) | 196 (48.04) | 1.36 (0.92, 2.00) | 0.12 | |
| One homozygous variant genotype | 91 (21.31) | 81 (19.85) | 1.32 (0.84, 2.08) | 0.23 | |
| Double homozygous variant genotype | 37 (8.67) | 48 (11.76) | 0.90 (0.51, 1.56) | 0.70 | |
| Unknown | 3 (0.70) | 2 (0.49) | |||
| Category B. | |||||
| Other genotype combinations | 387 (90.63) | 358 (87.75) | 1 (reference) | ||
| Double homozygous variant genotype | 37 (8.67) | 48 (11.76) | 0.71 (0.44, 1.13) | 0.15 | |
| Unknown | 3 (0.70) | 2 (0.49) | |||
| Category C. | |||||
| Double wild-type genotype | 73 (17.10) | 81 (19.85) | 1 (reference) | ||
| Other genotype combinations | 351 (82.20) | 325 (79.66) | 1.28 (0.89, 1.84) | 0.19 | |
| Unknown | 3 (0.70) | 2 (0.49) | |||
| Category D. | |||||
| Other genotype combinations | 296 (69.32) | 277 (67.89) | 1 (reference) | ||
| At least one homozygous variant genotype | 128 (29.98) | 129 (31.62) | 0.93 (0.68, 1.26) | 0.63 | |
| Unknown | 3 (0.70) | 2 (0.49) |
CI, confidence interval; Del, deletion; Ins, insertion; N, number; OR, odds ratio.
* Adjusted for age, sex, number of first degree relatives with colorectal cancer, smoking status, and body mass index. Please note that final models include only the patients with the available covariate data. For further information on genotype combinations/categories, please refer to Methods/S1 Table.
† Ins/Ins vs Ins/Del vs Del/Del.
‡ Homozygous variant genotype is Ins/Ins genotype.