Table 1. .
Allele Association and Genotype Association between Polymorphisms of Complement Pathway Genes and AMD
| SNP ID (Allele) |
Designation (Location) |
Allele Association |
Genotype Association |
|||||||||
|
Allele |
AMD
n
(%) |
Control
n
(%) |
OR* (95% CI) |
P |
Power |
Genotype |
AMD
n
(%) |
Control
n
(%) |
OR* (95% CI) |
P |
||
| rs800292 | CFH, 162V | A | 105 (31.8) | 179 (41.4) | Ref | GG† | 77 (46.7) | 75 (34.7) | 2.45 (1.25, 4.79)‡ | 0.0093** | ||
| (G/A, G > A) | Exon 2 (1q32) | G | 225 (68.2) | 253 (58.6) | 1.53 (1.12, 2.08) | 0.0069 | – | GA | 77 (44.0) | 103 (47.7) | 1.37 (0.87, 2.17)§ | 0.1779 |
| AA | 17 (10.3) | 38 (17.6) | 1.65 (0.85, 3.21)¶ | 0.1391 | ||||||||
| rs1410996 | CFH | C | 117 (34.5) | 183 (42.4) | Ref | TT† | 64 (38.8) | 74 (34.3) | 2.49 (1.24, 5.00)‡ | 0.0101** | ||
| (T/C, T > C) | Intron 14 (1q32) | T | 213 (65.5) | 249 (57.6) | 1.42 (1.01, 1.84) | 0.0473 | – | TC | 85 (51.5) | 101 (46.8) | 0.92 (0.58, 1.46)§ | 0.7376 |
| CC | 16 (9.7) | 41 (18.9) | 2.44 (1.25, 4.73)¶ | 0.0086** | ||||||||
| rs9332739 | C2, E318D | G | 311 (97.8) | 422 (97.7) | Ref | CC† | 0 (0) | 0 (0) | NA | |||
| (G/C, G > C) | Exon 7 (6p21.3) | C | 7 (2.2) | 10 (2.3) | 1.07 (0.41, 2.81) | 0.8888 | 0.0502 | GC | 8 (4.9) | 10 (4.6) | NA | |
| GG | 157 (95.1) | 206 (95.4) | 1.07 (0.40, 2.85)¶ | 0.8874 | ||||||||
| rs4151667 | CFB, L9H | T | 311 (96.1) | 422 (97.7) | Ref | AA† | 0 (0) | 0 (0) | NA | |||
| (T/A, T > A) | Exon 1 (6p21.3) | A | 13 (3.9) | 10 (2.3) | 1.97 (0.84, 4.63) | 0.1121 | 0.2563 | TA | 13 (7.9) | 10 (4.6) | NA | |
| TT | 152 (92.1) | 206 (95.4) | 2.01 (0.84, 4.82)¶ | 0.1159 | ||||||||
| rs2241394 | C3 | G | 277 (91.7) | 399 (92.4) | Ref | GG† | 128 (84.8) | 183 (84.7) | 1.26 (0.68, 2.31)‡ | 0.4671 | ||
| (G/C, G > C) | Intron (19p13.2) | C | 25 (8.3) | 33 (7.6) | 1.03 (0.59, 1.79) | 0.9235 | 0.0655 | GC | 21 (13.9) | 33 (15.3) | NA | |
| CC | 2 (1.3) | 0 (0) | NA | |||||||||
| rs2230199 | C3, R102G | G | 2 (0.6) | 4 (0.9) | Ref | CC† | 163 (98.8) | 212 (98.6) | 1.16 (0.20, 6.67)‡ | 0.8679 | ||
| (C/G, C > G) | Exon 3 (19p13.2) | C | 328 (99.4) | 428 (99.1) | 1.16 (0.20, 6.60) | 0.8686 | 0.0692 | CG | 2 (2.1) | 4 (1.4) | NA | |
| GG | 0 (0) | 0 (0) | NA | |||||||||
NA, the OR was not available where the number of individuals with two copies of the risk allele was zero; Ref, the reference group in groups' comparisons.
ORs were adjusted by age and sex.
Homozygous for the risk allele.
Comparing the likelihood of AMD among individuals with two copies of risk allele versus individuals with no copies of risk allele.
Comparing the likelihood of AMD among individuals with two copies of risk allele versus one copy of risk allele.
Comparing the likelihood of AMD among individuals with one copy of risk allele versus no copy of risk allele.
ORs represent significance at α (0.05/3) = 0.0167 (Bonferroni correction for 3 times of multiple comparisons).