Table 2.
Common sequence variations in the human TGIF gene
| Frequency in patients with HPE | Frequency in controls | |||||
|---|---|---|---|---|---|---|
| Polymorphism | Region | Hetero | Homo | Hetero | Homo | Two sided P value |
| c.-961T>C | Promoter | 8/348 | 8/118 | 0.02 | ||
| c.-945dupC | Promoter | 3/348 | 2/118 | 0.44 | ||
| c.-920T>A | Promoter | 2/348 | 0/118 | 0.39 | ||
| c.-783A>T | Promoter | 0/348 | 1/118 | 0.09 | ||
| c.-777G>A | Promoter | 1/348 | 0/118 | 0.56 | ||
| c.-767T>G | Promoter | 2/348 | 0/118 | 0.41 | ||
| c.-713G>A | Promoter | 72/348 | 24/118 | 1/118 | 1.00 | |
| c.-711G>C | Promoter | 3/348 | 6/118 | 0.0037# | ||
| c.-696G>T | Promoter | 46/348 | 1/348 | 9/118 | 0.11 | |
| c.-693T>C | Promoter | 1/348 | 3/118 | 0.023 | ||
| c.-678G>T | Promoter | 1/348 | 0/118 | 0.56 | ||
| c.-613A>G | Promoter | 1/331 | 0/118 | 0.55 | ||
| c.-611A>G | Promoter | 2/311 | 2/111 | 0.28 | ||
| c.-478G>C | Promoter | 2/331 | 0/118 | 0.40 | ||
| c.-427G>C | Promoter | 1/343 | 0/118 | 0.55 | ||
| c.-284A>T | 5′UTR | 7/343 | 11/93 | 0.0001# | ||
| c.-214dupG | 5′UTR | 3/343 | 0/93 | 0.37 | ||
| c.-33C>A | 5′UTR | 101/424 | 2/424 | 32/94 | 2/94 | 0.045 |
| c.16+9G>A | Intronic | 1/424 | 0/94 | 0.66 | ||
| c.16+86_88 delTGG | Intronic | 2/424 | 0/94 | 0.50 | ||
| c.16+173C>T | Intronic | 1/424 | 0/94 | 0.63 | ||
| c.244-106T>G | Intronic | 1/181 | not tested | N/A | ||
| c.244-119C>G | Intronic | 31/181 | 4/181 | not tested | N/A | |
| c.244-128delT | Intronic | 1/181 | not tested | N/A | ||
| c.244-49T>C | Intronic | 0/181 | 1/8 | 0.00001# | ||
| c.244-18G>A | Intronic | 1/181 | not tested | N/A | ||
| c.60C>T | Coding (p.S20S) | 1/419 | 2/94 | 0.03 | ||
| c.174T>A | Coding (p.R58R) | 0/419 | 1/94 | 0.04 | ||
| c.420A>G | Coding (p.P140P)* | 61/404 | 4/404 | 14/95 | 1/95 | 1.00 |
| c.487C>T | Coding (p.P163S) | 26/404 | 2/404 | 11/95 | 0.06 | |
| c.488C>T | Coding (p.P163L)* | 41/404 | 1/404 | 3/95 | 0.03 | |
| c.489G>A | Coding (p.P163P) | 7/404 | 3/95 | 1/95 | 0.40 | |
| c.887T>G | Coding (p.V192V) | 16/404 | 10/95 | 0.02 | ||
| c.657T>G | Coding (p.T219T)* | 21/404 | 1/404 | 14/95 | 0.0006# | |
| c.711C>A | Coding (p.P237P) | 1/404 | 0/94 | 0.88 | ||
*
Sequence variations also seen in TGIF as a candidate for myopia (38).
#
Variations found significantly more frequently in normal controls.