Table 3.
CMT-associated ESR1 haplotypes in the ESS cases and controls
|
Haplotype |
Frequency |
PRawa |
PBonfb |
PPermc |
OR |
||
|---|---|---|---|---|---|---|---|
| Total | Cases | Controls | |||||
|
ESR1 EX 2 and ESR1 EX 4 (rs21960513 and ss244244343) | |||||||
|
TA |
0.668 |
0.701 |
0.610 |
0.035 |
0.381 |
0.549 |
1.5 |
|
CA |
0.318 |
0.293 |
0.363 |
0.098 |
1.000 |
0.941 |
0.7 |
|
CG |
0.014 |
0.006 |
0.027 |
0.052 |
0.572 |
0.741 |
0.2 |
|
ESR1 INT 7-8a, –b and ESR1 EX 8 (ss244244344, ss244244345 and ss244244346) | |||||||
|
GTG |
0.791 |
0.818 |
0.744 |
0.047 |
0.517 |
0.683 |
1.5 |
| ACA | 0.091 | 0.070 | 0.129 | 0.024 | 0.264 | 0.480 | 0.5 |
aP-value from chi-square test in Haploview.
b Corrected for the number of LD blocks available (11).
c Permutation P-value from Haploview, 10,000 permutations.