Table 2. Frequency of genotypes, p.R141L, p. G153D, and rs2165241, of LOXL1 in patients with XFS, XFG, and control subjects.
| Genotype | XFS all (n=56) | XFG (n=36) | XFS no glaucoma (n=20) | POAG (n=62) | Control (n=138) |
|---|---|---|---|---|---|
|
LOXL1 p.R141L (rs1048661) variant | |||||
| T/T |
53 (94.6%) |
34 (94.4%) |
19 (95.0%) |
23 (37.1%) |
30 (21.7%) |
| T/G |
2 (3.6%) |
1 (2.8%) |
1 (5.0%) |
29 (46.8%) |
80 (58.0%) |
| G/G |
1 (1.8%) |
1 (2.8%) |
0 |
10 (16.1%) |
28 (20.3%) |
| p value* |
1.6x10−19 |
7.8x10−15 |
3.0x10−10 |
0.15 |
|
|
LOXL1 p.G153D (rs3825942) variant | |||||
| G/G |
56 (100%) |
36 (100%) |
20 (100%) |
51 (82.3%) |
108 (78.3%) |
| G/A |
0 |
0 |
0 |
11 (17.7%) |
26 (18.8%) |
| A/A |
0 |
0 |
0 |
0 |
4 (2.9%) |
| p value* |
7.5x10−4 |
8.8x10−3 |
0.068 |
0.58 |
|
|
LOXL1rs2165241 variant | |||||
| C/C |
54(96,4%) |
34(94.4%) |
20(100%) |
56(91.3%) |
122(88.4%) |
| C/T |
2(3.6%) |
2(5.6%) |
0 |
6(9.7%) |
16(11.6%) |
| T/T |
0 |
0 |
0 |
0 |
0 |
| p value* | 0.08 | 0.29 | 0.11 | 0.69 | |
The asterisk indicates that the significance of the association was determined by a contingency table analysis using the χ2 test.