Table 2.
Association of TRIM66 rs112369934 in qualitative POAG phenotypes 1.
| Phenotype | Wildtype | Variant | p-Value |
|---|---|---|---|
| TT (N = 3227 Eyes) | TC (N = 462 Eyes) | ||
| Disc Shape | 0.53 | ||
| Round | 944 (48.4%) | 120 (46.0%) | |
| Oval | 1008 (51.6%) | 141 (54.0%) | |
| Disc Size | 0.61 | ||
| Normal | 1934 (98.6%) | 259 (98.1%) | |
| Abnormal | 27 (1.4%) | 5 (1.9%) | |
| Shape of Cup | 0.34 | ||
| Conical | 691 (37.0%) | 93 (37.8%) | |
| Cylindrical | 934 (50.0%) | 112 (45.5%) | |
| Bean | 243 (13.0%) | 41 (16.7%) | |
| Cup Depth | 0.39 | ||
| Shallow | 250 (13.3%) | 25 (10.2%) | |
| Moderate | 1193 (63.3%) | 165 (67.1%) | |
| Severe | 441 (23.4%) | 56 (22.8%) | |
| Rim Plane Position Constant | 0.54 | ||
| No | 288 (15.3%) | 42 (17.0%) | |
| Yes | 1598 (84.7%) | 205 (83.0%) | |
| Rim Depressed Inferior | 0.95 | ||
| No | 1864 (98.8%) | 244 (98.8%) | |
| Yes | 22 (1.2%) | 3 (1.2%) | |
| Rim Depressed Superior | NA | ||
| No | 1886 (100.0%) | 247 (100.0%) | |
| Yes | 0 (0.0%) | 0 (0.0%) | |
| Rim Depressed Nasal | 0.31 | ||
| No | 1854 (98.3%) | 245 (99.2%) | |
| Yes | 32 (1.7%) | 2 (0.8%) | |
| Rim Depressed Temporal | 0.37 | ||
| No | 1640 (87.0%) | 209 (84.6%) | |
| Yes | 246 (13.0%) | 38 (15.4%) | |
| Presence of PPA | NA | ||
| No | 0 (0.0%) | 0 (0.0%) | |
| Yes | 1946 (100.0%) | 262 (100.0%) | |
| Borders of PPA | 0.68 | ||
| Indistinct | 243 (12.5%) | 30 (11.5%) | |
| Distinct | 1701 (87.5%) | 231 (88.5%) | |
| Excavation | 0.37 | ||
| No | 1415 (74.9%) | 194 (77.9%) | |
| Yes | 473 (25.1%) | 55 (22.1%) | |
| Heavy TM Pigmentation | 0.33 | ||
| Indistinct | 1499 (77.1%) | 192 (73.8%) | |
| Distinct | 446 (22.9%) | 68 (26.2%) | |
| Disc Tilt | 0.08 | ||
| No | 1841 (94.6%) | 237 (91.2%) | |
| Yes | 106 (5.4%) | 23 (8.8%) | |
| Disc Hemorrhage | 0.41 | ||
| No | 1914 (98.2%) | 255 (97.3%) | |
| Yes | 36 (1.8%) | 7 (2.7%) | |
| Notching | 0.21 | ||
| No | 1797 (93.9%) | 244 (96.1%) | |
| Yes | 116 (6.1%) | 10 (3.9%) | |
| Disc Pallor | 0.69 | ||
| No | 1886 (96.7%) | 253 (96.2%) | |
| Yes | 64 (3.3%) | 10 (3.8%) |
1 A portion of images for qualitative phenotypic grading were missing or of poor quality, leading to missing data for the qualitative phenotypes for both genotypes.