Table 4.
Combined effect of the haplotypes of the two ESR1 LD blocks in ESS cases and controls
|
Haplotype combination |
Frequency |
Haplotype comparison |
OR (95% CI) |
PRawa |
PBonfb |
|
|---|---|---|---|---|---|---|
| Cases | Controls | |||||
|
TA-GTG (risk) |
207 |
97 |
Risk TA-GTG vs. rest |
1.8 (1.2 - 2.8) |
0.007 |
0.077 |
| |
|
|
Risk TA-GTG vs. protective CA-ACA |
3.3 (1.4 - 7.9) |
0.005 |
0.055 |
|
CA-ACA (protective) |
9 |
14 |
Protective CA-ACA vs. rest |
0.3 (0.1 - 0.8) |
0.010 |
0.110 |
| Other c | 56 | 41 | ||||
a Fisher-Exact test applied due to low counts of the CG haplotype (less than five in both cases and controls).
b Corrected for the number of LD blocks (11).
c For 29 cases and 18 controls, the haplotype combinations could not be fully determined due to genotyping failure of one or more of the ESR1 SNPs.