Sequence alterations in GPR75 detected in 535 AMD patients and 252 controls
|
Amplicon |
Nucleotide change |
Amino acid change |
AMD alleles (GER) (n=396) |
Control alleles (GER) (n=202) |
AMD alleles (USA) (n=482) |
Control alleles (USA) (n=224) |
AMD alleles (ITA) (n=192) |
Control alleles (ITA) (n=78) |
| 1 | −30A>C | — | 27 (6.8%) | 14 (6.9%) | 44 (9.1%) | 13 (5.8%) | 14 (7.3%) | 5 (6.4%) |
| 1 | −4G>A | — | 0 | 0 | 1 (0.2%) | 0 | 0 | 0 |
| 1 | 150G>A | A50A | 1 (0.3%) | 0 | 2 (0.4%) | 1 (0.5%) | 0 | 0 |
| 2 | 234C>G | N78K | 1 (0.3%) | 0 | 0 | 0 | 0 | 0 |
| 2 | 296C>T | P99L | 0 | 0 | 1 (0.2%) | 0 | 0 | 0 |
| 2 | 323G>C | S108T | 0 | 0 | 1 (0.2%) | 0 | 0 | 0 |
| 2 | 346G>A | A116T | 5 (1.3%) | 2 (1.0%) | 11 (2.3%) | 3 (1.3%) | 15 (7.8%) | 4 (5.1%) |
| 2 | 403A>C | T135P | 0 | 0 | 1 (0.2%) | 0 | 0 | 0 |
| 3 | 700C>T | Q234X | 1 (0.3%) | 0 | 0 | 0 | 0 | 0 |