Table 1. mtDNA haplogroup distribution in POAG patients and controls.
| Haplogroup | Coding positions | POAG (n=176) | HMS (n=186) | HAS (n=810) | POAG* HMS p value | POAG* HSA p value |
|---|---|---|---|---|---|---|
| H |
C7028C |
13 (7.4%) |
9 (4.8%) |
66 (8.1%) |
0.31 |
0.74 |
| R0a |
T3847C |
34 (19.3%) |
26 (14.0%) |
141 (17.4%) |
0.17 |
0.55 |
| J |
T4216C, C15452A |
37 (21.0%) |
47 (25.3%) |
171 (21.1%) |
0.34 |
0.98 |
| T |
T4216C, G15928A |
6 (3.4%) |
9 (4.8%) |
53 (6.5%) |
0.50 |
0.11 |
| K |
A3480G |
3 (1.7%) |
4 (2.2%) |
27 (3.3%) |
0.76 |
0.25 |
| U |
A12308G, 12372A |
16 (9.1%) |
25 (13.4%) |
91 (11.2%) |
0.19 |
0.41 |
| Other R |
C12705C |
3 (1.7%) |
8 (4.3%) |
25 (3.1%) |
0.15 |
0.32 |
| N1 |
T10238C, 12501A |
8 (4.5%) |
13 (7.0%) |
66 (8.1%) |
0.25 |
0.04* |
| W |
G15884C |
0 |
0 |
6 (0.7%) |
- |
0.25 |
| X |
C6371T |
2 (1.1%) |
4 (2.2%) |
20 (2.5%) |
0.45 |
0.28 |
| M1 |
C10400T, 12403T |
10 (5.7%) |
11 (5.9%) |
25 (3.1%) |
0.93 |
0.09 |
| M(xM1)1 |
C10400T |
6 (3.4%) |
6 (3.2%) |
24 (3.0%) |
0.92 |
0.76 |
| L |
T9540C, 10400C |
38 (21.6%) |
24 (12.9%) |
95 (11.7%) |
0.03* |
0.001*** |
| L2 |
T10115C |
11 (6.3%) |
10 (5.4%) |
35 (4.3%) |
0.72 |
0.27 |
| L(xL2)2 | T9540C, 10400C | 27 (15.3%) | 14 (7.5%) | 60 (7.4%) | 0.02* | 0.001*** |
POAG, Primary open-angle glaucoma patients; HMC, healthy matched controls; HAS, healthy Saudi Arab sample. χ2 or Fisher exact tests were applied to investigate the association between having a certain haplogroup and the occurrence of POAG. 1. All M haplogroups excepting M1. 2. All L haplogroups excepting L2.