Table 2. WDR36 sequence variants observed in 135 POAG patients and 77 control subjects.
| Location | Sequence Change (major allele A> minor allele B) | Codon Change | SNP ID |
Minor Allele (B) Frequency (%) |
Genotype Frequency (BB/AB/AA) |
||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| HTG (n=164) | NTG (n=84) | JOAG (n=22) | Control (n=154) | HTG (n=82) | NTG (n=42) | JOAG (n=11) | Control (n=77) | ||||
| Nonsynonymous variant | |||||||||||
| Exon 6 |
c.718C>G |
L240V |
Novel |
0 (0.0) |
0 (0.0) |
0 (0.0) |
1 (0.6) |
0/0/82 |
0/0/42 |
0/0/11 |
0/1/76 |
| Exon 7 |
c.790A>G |
I264V |
rs11241095 |
37 (22.6) |
16 (19.0) |
6 (27.3) |
36 (23.4) |
4/29/49 |
2/12/28 |
0/6/5 |
3/30/44 |
|
Exon 18 |
c.2137A>G |
I713V |
Novel |
3 (1.8) |
0 (0.0) |
0 (0.0) |
0 (0.0) |
0/3/79 |
0/0/42 |
0/0/11 |
0/0/77 |
| Synonymous variant | |||||||||||
| Exon 4 |
c.540T>A |
T180T |
Novel |
1 (0.6) |
0 (0.0) |
0 (0.0) |
0 (0.0) |
0/1/81 |
0/0/42 |
0/0/11 |
0/0/77 |
| Exon 18 |
c.2142C>G |
V714V |
rs17624563 |
16 (9.8) |
9 (10.7) |
1 (4.5) |
9 (5.8) |
0/16/66 |
0/9/33 |
0/1/10 |
0/9/68 |
| Exon 19 |
c.2181A>T |
V727V |
rs13186912 |
30 (18.3) |
15 (17.9) |
6 (27.3) |
33 (21.4) |
4/22/56 |
2/11/29 |
0/6/5 |
2/29/46 |
| Intronic variant | |||||||||||
| Intron 3 |
IVS3–113G>A |
- |
rs13153937 |
49 (29.9) |
19 (22.6) |
6 (27.3) |
41 (26.6) |
9/31/42 |
4/11/27 |
1/4/6 |
5/31/41 |
|
Intron 5 |
IVS5+30C>T |
- |
rs10038177 |
27 (16.5) |
5 (6.0) |
2 (9.1) |
2 (1.3) |
6/15/61 |
2/1/39 |
0/2/9 |
0/2/75 |
| Intron 8 |
IVS8+38A>G |
- |
Novel |
0 (0.0) |
0 (0.0) |
0 (0.0) |
1 (0.6) |
0/0/82 |
0/0/42 |
0/0/11 |
0/1/76 |
| Intron 8 |
IVS8+45C>G |
- |
Novel |
0 (0.0) |
1 (1.2) |
0 (0.0) |
0 (0.0) |
0/0/82 |
0/1/41 |
0/0/11 |
0/0/77 |
| Intron 9 |
IVS9–81T>C |
- |
No SNP ID |
6 (3.7) |
4 (4.8) |
1 (4.5) |
9 (5.8) |
0/6/76 |
0/4/38 |
0/1/10 |
1/7/69 |
| Intron 13 |
IVS13+89G>A |
- |
rs34962120 |
31 (18.9) |
19 (22.6) |
5 (22.7) |
28 (18.2) |
4/23/55 |
5/9/28 |
0/5/6 |
3/22/52 |
| Intron 14 |
IVS14+89C>A |
- |
rs13161853 |
62 (37.8) |
23 (27.4) |
7 (31.8) |
42 (27.3) |
15/32/35 |
2/19/21 |
1/5/5 |
9/24/44 |
| Intron 16 |
IVS16–30A>G |
- |
rs17553936 |
40 (24.4) |
17 (20.2) |
3 (13.6) |
33 (21.4) |
7/26/49 |
2/13/27 |
0/3/8 |
3/27/47 |
| Intron 17 |
IVS17+32T>G |
- |
Novel |
0 (0.0) |
1 (1.2) |
0 (0.0) |
0 (0.0) |
0/0/82 |
0/1/41 |
0/0/11 |
0/0/77 |
| Intron 17 |
IVS17+59A>C |
- |
Novel |
0 (0.0) |
0 (0.0) |
0 (0.0) |
1 (0.6) |
0/0/82 |
0/0/42 |
0/0/11 |
0/1/76 |
| Intron 18 |
IVS18+216C>T |
- |
rs17554123 |
16 (9.8) |
9 (10.7) |
1 (4.5) |
14 (9.1) |
0/16/66 |
0/9/33 |
0/1/10 |
0/14/63 |
| Intron 18 |
IVS18–10T>A |
- |
Novel |
1 (0.6) |
0 (0.0) |
0 (0.0) |
0 (0.0) |
0/1/81 |
0/0/42 |
0/0/11 |
0/0/77 |
| Intron 21 | IVS21+60G>C | - | rs2290680 | 19 (11.6) | 9 (10.7) | 1 (4.5) | 9 (5.8) | 0/19/63 | 0/9/33 | 0/1/10 | 0/9/68 |
One disease-causing mutation, I713V, was found in three patients with HTG (3.7%) and was absent in patients with NTG or JOAG and in controls. The minor allele T of IVS5+30C>T (rs10038177) was found in a significantly higher frequency in HTG patients than in controls (p=7.9×10−7, Bonferroni corrected p=1.5×10−5; OR=15.0, 95% CI: 3.50, 64.2). The allele T carriers (genotypes TT/CT) had an increased HTG risk (p=2.3×10−5; OR=12.9, 95% CI: 2.91, 57.2) compared to non-allele T carriers (genotype CC). None of the other SNPs of WDR36 was found to be associated with HTG, NTG, or JOAG (p>0.05).