Table 3. Allele frequency in POAG patients and controls.
| SNP ID and location in WDR36 | Allele | Patient subgroup | Frequency in patients (number) | Frequency in controls (number) | p-value | Bonferroni corrected p-value | OR (95% CI) | Relative risk (95% CI) |
|---|---|---|---|---|---|---|---|---|
|
rs1971050 (c.330+925 C>T) |
C |
POAG |
0.10 (67) |
0.09 (21) |
0.495 |
- |
- |
- |
| |
|
HTG |
0.13 (30) |
|
0.152 |
- |
- |
- |
| |
|
NON-HTG |
0.09 (37) |
|
0.961 |
- |
- |
- |
| |
T |
POAG |
0.90 (579) |
0.91 (217) |
0.495 |
- |
- |
- |
| |
|
HTG |
0.87 (202) |
|
0.152 |
- |
- |
- |
| |
|
NON-HTG |
0.91 (377) |
|
0.961 |
- |
- |
- |
|
rs1993465 (c.459+183A>G) |
A |
POAG |
0.35 (225) |
0.32 (76) |
0.420 |
- |
- |
- |
| |
|
HTG |
0.40 (93) |
|
0.066 |
0.66 |
- |
- |
| |
|
NON-HTG |
0.32 (132) |
|
0.990 |
- |
- |
- |
| |
G |
POAG |
0.65 (421) |
0.68 (162) |
0.420 |
- |
- |
- |
| |
|
HTG |
0.60 (139) |
|
0.066 |
0.66 |
- |
- |
| |
|
NON-HTG |
0.68 (282) |
|
0.990 |
- |
- |
- |
|
rs13153937 (c.460–112A>G) |
A |
POAG |
0.29 (185) |
0.24 (57) |
0.166 |
- |
- |
|
| |
|
HTG |
0.23 (53) |
|
0.777 |
- |
- |
|
| |
|
NON-HTG |
0.32 (132) |
|
0.032 |
0.32 |
1.486 (1.035–2.133) |
1.147 (1.007–1.287) |
| |
G |
POAG |
0.71 (461) |
0.76 (181) |
0.166 |
- |
- |
- |
| |
|
HTG |
0.77 (179) |
|
0.777 |
- |
- |
- |
| |
|
NON-HTG |
0.68 (282) |
|
0.032 |
0.32 |
- |
- |
|
rs10038177 (c.710+30C>T) |
C |
POAG |
0.30 (197) |
0.22 (52) |
0.011 |
0.11 |
1.569 (1.107–2.225) |
1.119 (1.023–1.209) |
| |
|
HTG |
0.32 (88) |
|
0.00014* |
0.0014 |
2.186 (1.458–3.277) |
1.440 (1.190–1.712) |
| |
|
NON-HTG |
0.26 (109) |
|
0.202 |
- |
- |
- |
| |
T |
POAG |
0.70 (449) |
0.78 (186) |
0.011 |
0.11 |
- |
- |
| |
|
HTG |
0.68 (144) |
|
0.00014* |
0.0014 |
- |
- |
| |
|
NON-HTG |
0.74 (305) |
|
0.202 |
- |
- |
- |
|
rs11241095 (c 772G>A, I264V) |
A |
POAG |
0.62 (399) |
0.62 (148) |
0.909 |
- |
- |
- |
| |
|
HTG |
0.65 (151) |
|
0.513 |
- |
- |
- |
| |
|
NON-HTG |
0.6 0 (248) |
|
0.566 |
- |
- |
- |
| |
G |
POAG |
0.38 (247) |
0.38 (90) |
0.909 |
- |
- |
|
| |
|
HTG |
0.35 (81) |
|
0.513 |
- |
- |
- |
| |
|
NON-HTG |
0.40 (166) |
|
0.566 |
- |
- |
- |
|
rs10043631
(c.1494+90C>T) |
C |
POAG |
0.28 (184) |
0.27 (64) |
0.640 |
- |
- |
- |
| |
|
HTG |
0.31 (72) |
|
0.322 |
- |
- |
- |
| |
|
NON-HTG |
0.27 (112) |
|
0.964 |
- |
- |
- |
| |
T |
POAG |
0.72 (462) |
0.73 (174) |
0.640 |
- |
- |
- |
| |
|
HTG |
0.69 (160) |
|
0.322 |
- |
- |
- |
| |
|
NON-HTG |
0.73 (302) |
|
0.964 |
- |
- |
- |
|
rs10038058
(c.1494+143G>A) |
A |
POAG |
0.35 (225) |
0.33 (79) |
0.650 |
- |
- |
- |
| |
|
HTG |
0.38 (88) |
|
0.283 |
- |
- |
- |
| |
|
NON-HTG |
0.33 (137) |
|
0.976 |
- |
- |
- |
| |
G |
POAG |
0.6 5(421) |
0.67 (159) |
0.650 |
- |
- |
- |
| |
|
HTG |
0.62 (144) |
|
0.283 |
- |
- |
- |
| |
|
NON-HTG |
0.67 (277) |
|
0.976 |
- |
- |
- |
|
rs10491424 (c.1965–905C>T) |
C |
POAG |
0.40 (262) |
0.41 (98) |
0.868 |
- |
- |
- |
| |
|
HTG |
0.36 (84) |
|
0.269 |
- |
- |
- |
| |
|
NON-HTG |
0.43 (178) |
|
0.651 |
- |
- |
|
| |
T |
POAG |
0.60 (384) |
0.59 (140) |
0.868 |
- |
- |
- |
| |
|
HTG |
0.64 (148) |
|
0.269 |
- |
- |
- |
| |
|
NON-HTG |
0.57 (236) |
|
0.651 |
- |
- |
- |
|
rs17553936
(c.1965–30A>G) |
A |
POAG |
0.64 (414) |
0.63 (151) |
0.860 |
- |
- |
- |
| |
|
HTG |
0.66 (154) |
|
0.505 |
- |
- |
- |
| |
|
NON-HTG |
0.63 (260) |
|
0.937 |
- |
- |
- |
| |
G |
POAG |
0.36 (232) |
0.37 (87) |
0.860 |
- |
- |
- |
| |
|
HTG |
0.34 (78) |
|
0.505 |
- |
- |
- |
| |
|
NON-HTG |
0.37 (154) |
|
0.937 |
- |
- |
- |
|
rs13186912
(c.2181A>T) (V727V) |
A |
POAG |
0.69 (446) |
0.68 (162) |
0.782 |
- |
- |
- |
| |
|
HTG |
0.73 (169) |
|
0.257 |
- |
- |
- |
| |
|
NON-HTG |
0.67 (277) |
|
0.761 |
- |
- |
- |
| |
T |
POAG |
0.31 (200) |
0.32 (76) |
0.782 |
- |
- |
- |
| |
|
HTG |
0.27 (63) |
|
0.257 |
- |
- |
- |
| NON-HTG | 0.33 (137) | 0.761 | - | - | - |
*Significant observation. The dbSNP reference IDs for each SNP and their location in the genomic region are furnished. Ten SNPs (rs1971050, rs1993465, rs13153937, rs10038177, rs11241095, rs10043631, rs10038058, rs10491424, rs17553936, and rs13186912) were genotyped in 323 POAG patient (207 non-HTG, 116HTG) and 119 controls. Among the 10 SNPs analyzed only one SNP rs10038177 (c.710+30C>T) was found to be significantly associated with the entire POAG patient cohort and when it is subdivided to two groups: HTG (IOP >21 mmHg) and non-HTG (IOP <21 mmHg), rs10038177 (c.710+30C>T) was found to be strongly associated with HTG patient cohort even after Bonferroni correction for multiple tests. The weak association of rs13153937 (c.460–112A>G) was nullified after Bonferroni adjustments for multiple tests.