Table 1.
Immune-related gene variants associated with AMD
| Gene | Chromosomal Location | Function | Variant Effect | References |
|---|---|---|---|---|
| CFH | 1q32 | Alternative pathway inhibitor | Harmful | 11–14 |
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| CFB | 6p21 | Alternative pathway activator | Protective | 15, 16, 25 |
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| C2 | 6p21 | Classical pathway activator | Protective | 14, 15, 22 |
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| C3 | 19p13 | Complement component; multiple inflammatory functions | Harmful | 17–19 |
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| C5 | 9q33-q34 | Complement component; multiple inflammatory functions | Depends on variant | 20 |
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| CX3CR1 | 3p21 | Chemokine receptor found on retinal microglia | Conflicting/Harmful | 27–31 |
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| CCR3 | 3p21 | Chemokine receptor | Harmful | 32 |
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| IL-8/CXCL8 | 4q13-q21 | Chemokine for neutrophils; pro-angiogenic | Harmful | 33, 34 |
CFH: Complement factor H; CFB: Complement factor B; C2: Complement component 2; C3: Complement component 3; C5: Complement component 5; IL: Interleukin