Table 3.
Associations between heritable DNA methylation marks (associated with breast cancer in 608 multiple-case families) and risk of breast cancer in the general population (Melbourne Collaborative Cohort Study), M-values categorised into 2 or 3 groups according to observed bimodal or trimodal 610 distribution (i.e., peaks)
| Site | Chr. | Position | Gene name | Smaller peak definition | N cases/controls in peak | OR a | 95% CI | p |
|---|---|---|---|---|---|---|---|---|
| cg06536614 | 5 | 135416381 | VTRNA2-1 (MIR886) | M < −1.8 | 98/90 | 1.12 | 0.80–1.57 | 0.503 |
| cg10306192 | 11 | 102576374 | MMP27 | M > −2.5 | 186/172 | 1.13 | 0.84–1.51 | 0.420 |
| cg18110333 | 6 | 292329 | DUSP22 | M < −2 | 97/92 | 1.09 | 0.77–1.54 | 0.626 |
| cg00124993 | 5 | 135416412 | VTRNA2-1 (MIR886) | M < −2.8 | 96/85 | 1.17 | 0.83–1.64 | 0.379 |
| cg26328633 | 5 | 135416394 | VTRNA2-1 (MIR886) | M < −2 | 100/91 | 1.15 | 0.82–1.61 | 0.414 |
| cg25340688 | 5 | 135416398 | VTRNA2-1 (MIR886) | M < −2 | 100/83 | 1.12 | 0.80–1.57 | 0.521 |
| cg18514595 | 22 | 49579968 | Unannotated | −2 < M < 2 | 183/156 | 1.35 | 1.00–1.82 | 0.048 |
| M > 2 | 30/28 | 1.06 | 0.61–1.83 | 0.842 | ||||
| cg26896946 | 5 | 135416405 | VTRNA2-1 (MIR886) | M < −1.5 | 100/92 | 1.13 | 0.81–1.59 | 0.477 |
| cg11035303 | 3 | 43465503 | ANO10 | M > −2 | 33/36 | 0.89 | 0.54–1.46 | 0.633 |
| cg23012654 | 14 | 97493395 | unannotated | M < 2 | 83/76 | 1.12 | 0.78–1.62 | 0.545 |
| cg26773954 | 13 | 111969980 | unannotated | M < 2.2 | 83/83 | 0.95 | 0.67–1.34 | 0.765 |
| cg22901919 | 4 | 141317067 | CLGN | M < 1.5 | 147/139 | 1.11 | 0.80–1.54 | 0.522 |
| cg04417708 | 17 | 4043867 | ZZEF1 | M < 2.5 | 116/119 | 1.00 | 0.74–1.36 | 0.984 |
| cg18584561 | 2 | 11682017 | GREB1 | M < −2 | 188/235 | 0.60 | 0.45–0.80 | 0.00045 |
| M > 1 | 32/45 | 0.56 | 0.34–0.95 | 0.030 | ||||
| cg11608150 | 5 | 135415948 | Unannotated | M < −2.5 | 118/102 | 1.22 | 0.88–1.67 | 0.229 |
| cg01741999 | 2 | 219137824 | PNKD | No peak | — | — | — | — |
| cg01074083 | 16 | 17516862 | XYLT1 | M < 2 | 135/125 | 1.12 | 0.82–1.53 | 0.493 |
| cg02096220 | 4 | 129212177 | Unannotated | M < 1.5 | 151/153 | 1.03 | 0.77–1.38 | 0.825 |
| cg03916490 | 7 | 1080558 | C7orf50 | M < 2.5 | 130/101 | 1.61 | 1.16–2.24 | 0.0047 |
| cg27639199 | 15 | 81666528 | TMC3 | −1.5 < M < 1.5 | 189/181 | 1.23 | 0.92–1.64 | 0.157 |
| M > 1.5 | 47/26 | 2.16 | 1.25–3.72 | 0.0059 | ||||
| cg25188166 | 3 | 119420208 | Unannotated | M < −0.5 | 29/27 | 1.07 | 0.62–1.86 | 0.809 |
| −0.5 < M < 1.5 | 71/78 | 0.92 | 0.64–1.32 | 0.661 | ||||
| cg05865327 | 14 | 102274741 | PPP2R5C | M < 2.2 | 106/106 | 0.95 | 0.68–1.32 | 0.760 |
| cg23947138 | 13 | 114782778 | RASA3 | M < 1.5 | 115/95 | 1.33 | 0.97–1.82 | 0.075 |
| cg05187003 | 21 | 34641507 | IL10RB | No peak | — | — | — | — |
a Odds ratio from conditional logistic regression of the risk of breast cancer on M-values (per 1 s.d.), adjusting for body mass index, tobacco smoking, alcohol drinking, time between blood collection and cancer diagnosis, and sample type (dried blood spots, peripheral blood mononuclear cells, and buffy coats). Cases and controls were individually matched on year of birth, year of blood draw, country of birth, and sample type for the vast majority of them (97%)). Bold text indicates statistically significant associations (Table 2)