Age-related Macular Degeneration: Genetic and Environmental Factors of Disease
Table 1
Genetic Loci Associated with AMD
| Gene symbol (name) | Function | Positionb | Variant | Odds Ratios (OR)c | References |
|---|---|---|---|---|---|
| ABCA4 (ATP-binding cassette, sub-family A, member 4) | Photoreceptor-specific expression; transport of N-retinylidene-PE across the outer segment disc membrane | 1p22 | rs1800553, rs1800555 | Conflicting results: ORhetero=5.0 ORhetero=2.8 no association |
(102, 103) |
| APOE (Apolipoprotein E) | Lipid and cholesterol transport | 19q13 | rs429358, rs7412 | Conflicting results: ɛ2 ORhomo=1.046d; ɛ4 ORhomo=0.35–0.53, 0.847 d; no association |
(103–105) |
| ARMS2/LOC387715a (Age-related maculopathy susceptibility 2) | Unknown; gene product is localized to mitochondrial outer membrane | 10q26 | rs10490924, in/ | ORhomo=8.59 | (27, 103, 106) |
| HTRA1a (High temperature requirement A1) | Trypsin-like serine protease | 10q26 | rs11200638 | ORhomo=6.92d, 7.46d | (107, 108) |
| C2/CFB (Complement 2/Complement factor B) | Regulation of complement activation | 6p21 | rs9332739 (c2), rs4151667(CFB), rs641153 (CFB) | ORhetero=0.32–0.40 | (59, 105) |
| C3 (Complement 3) | Innate immunity (alternative complement pathway activator, classical pathway component) | 19p13 | rs2230199, rs1047286 | ORhomo=1.93–3.91 | (74, 75, 105) |
| CFHa (Complement factor H) | Inhibitor of alternative complement pathway | 1q32 | rs1061170 | ORhomo=6.32d | (27, 109) |
| CFHR1/CFHR3 (Complement factor H-related 1, 3) | Unknown, possible overlapping function with CFH | 1q31-q32 | 84K bp deletion | ORhomo=0.29 | (110) |
| CX3CR1 (Chemokine [C-X3-C motif] receptor 1) | Inflammation (chemokine receptor) | 3p21 | rs3732378 | ORhomo=1.98–2.70 | (111, 112) |
| ERCC6 (Excision-repair cross-complementing, group 6) | DNA repair | 10q11 | rs3793784 | ORhomo=1.6 | (113) |
| TLR3 (Toll-like receptor 3) | Innate immunity (targets+ viral dsRNA) | 4q35 | rs3775291 | ORhomo= 0.44–0.61 | (54, 114, 115) |
| TLR4 (Toll-like receptor 4) | Innate immunity (bacterial endotoxin receptor) | 9q32-q33 | rs4986790 | Conflicting results: ORhetero=2.65; no association | (53, 54, 114, 115) |
| VEGFA (Vascular endothelial growth factor A) | Angiogenesis | 6p12 | rs833069, rs1413711 | Conflicting results: ORhomo=5.29 ORhomo=2.40 no association |
(116–119) |
