Table 2.
Genetic variants identified in ABCA4 sequence analysis in CQ-treated patients with (cases) and without (controls) toxic maculopathy
| Frequency in | ||||||
|---|---|---|---|---|---|---|
| Variant (NM_000350.2) | Amino acid exchange (NP_000341.2) | Cases | Controls | EUR † | Raw p-value | FDR # |
| c.324G > A | M114I | 0.00 | 0.04 | - | - | - |
| c.635G > A | R212H | 0.06 | 0.08 | 0.06 | - | - |
| c.1268A > G* | H423R | 0.29 | 0.23 | 0.30 | 0.58783 | 0.58783 |
| c.1269C > T | H423H | 0.13 | 0.04 | 0.07 | - | - |
| c.1622T > C | L541P | 0.02 | 0.00 | - | - | - |
| c.2588G > C | G863A | 0.00 | 0.04 | 0.00 | - | - |
| c.2828G > A | R943Q | 0.04 | 0.12 | 0.04 | - | - |
| c.3113C > T | A1038V | 0.02 | 0.00 | 0.00 | - | - |
| c.4203C > A | P1401P | 0.00 | 0.04 | - | - | - |
| c.4297G > A | V1433I | 0.00 | 0.04 | 0.00 | - | - |
| c.5603A > T | N1868I | 0.06 | 0.08 | 0.07 | - | - |
| c.5682G > C* | L1894L | 0.13 | 0.38 | 0.26 | 0.02292 | 0.030 |
| c.5814A > G* | L1938L | 0.06 | 0.31 | 0.18 | 0.00722 | 0.014 |
| c.5843C > T | P1948L | 0.04 | 0.08 | 0.04 | - | - |
| c.5844A > G* | P1948P | 0.06 | 0.31 | 0.19 | 0.00722 | 0.014 |
| c.6069T > C | I2023I | 0.04 | 0.08 | 0.06 | - | |
| c.6148G > C | V2050L | 0.02 | 0.00 | 0.00 | - | - |
| c.6249C > T | I2083I | 0.04 | 0.08 | 0.05 | - | - |
| c.6282 + 7G > A | - | 0.04 | 0.08 | 0.05 | - | - |
| c.6285T > C | D2095D | 0.08 | 0.15 | 0.10 | - | - |
| c.6357A > G | E2119E | 0.02 | 0.00 | - | - | - |
| c.6730-3T > C | - | 0.02 | 0.12 | 0.02 | - | - |
| c.6764G > T | S2255I | 0.02 | 0.12 | 0.02 | - | - |
*Common variants (combined frequency in cases and controls > 11.6%).
†Frequency in 267 European individuals obtained from the 1000 Genomes Project.
#False discovery rate.