Table 5 of
Yen, Mol Vis 2008; 14:487-494. Table 5 of
Yen, Mol Vis 2008; 14:487-494.
Table 5. Allele frequencies of OPTN variants in this study.
| Variants | Allele Frequency (%) | Genotype | |||
| Genotype | JOAG (n=102) | Control (n=1–2) | p-value | JOAG (n=51) | Control (n=51) |
| c.-284G>A | G: 0.74 | G: 0.83 | 0.089 | 10/7/1934 | 2/13/1936 |
| A: 0.26 | A: 0.17 | ||||
| c.-233+25C>G | C: 1.00 | C: 0.75 | <0.001 | 0/0/51 | 6/13/1932 |
| G: 0.00 | G: 0.25 | ||||
| c.-105G.>A | G: 0.83 | G: 0.96 | 0.06 | 3/5/1943 | 0/4/47 |
| A: 0.17 | A: 0.04 | ||||
| c.102G>A | G: 0.81 | G: 0.80 | 0.859 | 1/17/1933 | 4/12/1935 |
| A: 0.19 | A: 0.20 | ||||
| c. IVS4+66A>G | A: 0.81 | A: 0.80 | 0.859 | 1/17/1933 | 4/12/1935 |
| G: 0.19 | G: 0.20 | ||||
| c.293T>A | T: 0.78 | T: 0.84 | 0.281 | 5/12/1934 | 2/12/1937 |
| A: 0.22 | A: 0.16 | ||||
| c.553–5C>T | C: 0.18 | C: 0.21 | 0.254 | 34/16/1 | 30/21/0 |
| T: 0.72 | T: 0.79 | ||||
| c.553–10G>A | G: 0.95 | G:0.87 | 0.048 | 1/3/1947 | 2/9/1940 |
| A: 0.05 | A:0.13 | ||||
| c.626+24G>A | G: 0.98 | G:0.95 | 0.618 | 0/2/49 | 0/8/43 |
| A: 0.02 | A:0.05 | ||||
| c.779+20G>A | G: 0.92 | G:0.93 | 0.249 | 0/8/43 | 0/7/44 |
| A: 0.08 | A:0.07 | ||||
| c.882+109A>G | A: 0.53 | A:0.57 | 0.789 | 6/18/2027 | 11/22/2018 |
| G: 0.47 | G:0.43 | ||||
| c.708–53T>C | T: 0.94 | T:0.87 | 0.574 | 2/2/1947 | 6/1/1944 |
| C: 0.06 | C:0.13 | ||||
| c.964A>G | A: 0.00 | A:0.00 | 1 | 51/0/0 | 51/0/0 |
| G: 1.00 | G:1.00 | ||||
| c.1978+101A>C | A: 0.71 | A:0.74 | 0.64 | 3/24/2024 | 4/19/2028 |
| C: 0.29 | C:0.26 | ||||
| c.1979–48C>A | C: 0.75 | C:0.73 | 0.632 | 6/13/1932 | 7/14/1930 |
| A: 0.25 | A:0.27 | ||||