Table 2. Candidate risk haplotypes identified in BCAC and three Swedish studies in comparison to the familial haplotypes.
| Candidate risk haplotypes | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Frequency | 5.1% | 5.0% | 8.3% | 9.0% | 1.7% | 1.7% | 1.3% | 21.3% | 1.7% | 5.6% | ||
| OR | 1.06 | 1.09 | 1.04 | 1.04 | 1.11 | 1.12 | 1.13 | 1.19 | 1.93 | 1.24 | ||
| p-value | 0.03 | 0.02 | 0.04 | 0.04 | 0.05 | 0.02 | 0.02 | 0.01 | 0.02 | 0.006 | ||
| SNP | 6006 | 6043 | BCAC I |
BCAC <50 y I |
BCAC II |
BCAC ER+ II |
BCAC >60 y III |
BCAC ER+ III |
BCAC ER+ IV |
SASBAC | KARBAC | pKARMA >60 y |
| rs9343798 | G | G | G | G | A | A | A | A | A | G | A | G |
| rs7760429 | G | G | G | G | G | G | G | G | A | G | A | G |
| rs9350774 | G | G | G | G | A | A | A | A | A | G | A | G |
| rs9448560 | G | G | G | G | G | G | G | G | G | G | G | A |
| rs1507152 | G | G | G | G | G | G | G | G | G | G | A | A |
| rs9361440 | A | A | A | A | C | C | A | A | A | A | A | A |
| rs9343824 | G | G | G | G | A | A | A | A | G | G | A | A |
| rs6454084 | G | G | G | G | G | G | G | G | G | G | G | A |
| rs955765 | G | G | G | G | G | G | G | G | G | G | A | G |
| rs9352664 | A | A | A | A | C | C | C | C | A | A | C | C |
| rs9361459 | A | A | A | A | A | A | G | G | A | A | G | G |
| rs9448595 | G | G | G | G | G | G | G | G | G | G | G | G |
| rs2275290 | G | G | G | G | G | G | A | A | G | G | A | G |
| rs10943606 | C | C | C | C | C | C | C | C | C | C | A | C |
| rs9350797 | A | A | A | A | A | A | G | G | A | A | G | A |
| rs10943611 | A | A | A | A | G | G | A | A | A | A | A | A |
| rs1415862 | A | A | A | A | A | A | A | A | A | A | A | G |
| rs1415863 | G | G | G | G | G | G | G | G | G | G | G | A |
| rs12208915 | G | G | G | G | G | G | G | G | G | G | A | G |
| rs9448607 | A | A | A | A | G | G | G | G | A | A | G | G |
| rs11754374 | C | C | C | C | C | C | A | A | C | C | A | C |
| rs10455120 | A | C | A | A | A | A | A | A | A | C | A | A |
| rs12197385 | C | A | C | C | C | C | C | C | C | A | C | C |
| rs1415310 | A | A | A | A | G | G | G | G | A | A | G | G |
| rs9443645 | A | A | A | A | G | G | G | G | A | A | G | G |
| rs12208017 | A | A | A | A | A | A | C | C | A | A | C | A |
| rs9361491 | G | G | G | G | A | A | A | A | G | G | A | G |
| rs6454096 | G | G | G | G | G | G | A | A | G | G | A | G |
| rs7768535 | G | G | G | G | G | G | A | A | G | G | A | G |
The two families are different on markers rs10455120 and rs12197385. Sub-analyses on postmenopausal (>60 y), early onset (<50 y), ER positive (ER+) and negative (ER-) cases were performed in all four studies. Estimated haplotype frequency in the control group, OR and association p-value was shown for each risk haplotype. Four risk haplotypes revealed in the BCAC study were referred as I, II, III and IV.