Table 3.
Genes associated with age-related macular degeneration (AMD).
| Gene | Function | Location | Association with AMD |
|---|---|---|---|
| Apolipoprotein E (APOE) | Lipid transport | 19q13.2 | Controversial, possibly with early-onset AMD55–57 |
| ATP-binding cassette rim protein (ABCR) | Membrane transport | 1p22-p22.1 | Controversial, possibly with wet AMD35–40 |
| Age-related maculopathy susceptibility protein 2 (ARMS2) | Unknown | 10q26.13 | Wet AMD, less with dry AMD48,50,58,59 |
| ATP synthase (MT-ATP6) | Produces ATP from ADP | MtDNA | Implicated in AMD60 |
| Complement factor H (CFH) | Inhibition of inflammatory response | 1q32 | Bilateral dry, wet AMD26,28–31,34 |
| Complement Factor B (CFB) | Component of alternative pathway | 6p21.3 | AMD32 |
| Complement factor 3 (C3) | Mediates inflammatory response | 19p13.3-p13.2 | Wet AMD22,33 |
| DNA excision repair protein (ERCC6) | Promotes complex formation at repair sites | 10q11.23 | Possible association with AMD61 |
| Fibroblast growth factor 2 (FGF2) | Diverse biological functions | 4q26 | Dry AMD48 |
| Fibulin 5 (FBLN5) | Polymerization of Elastin | 14q32.1 | AMD49 |
| Hepatic lipase (LIPC | Converts IDL toLDL | 15q21 | Reduced risk of wet and dry AMD55 |
| Lysyl oxidase-like 1 (LOXL1) | Connective tissue development | 15q24.1 | Wet AMD24,50 |
| Selectin P (SELP) | Pl atel et/l eucocyte Interactions | 1q22-q25 | Dry AMD51 |
| Serpin peptidase inhibitor (SERPING1) | Regulates complement | 11q12-q13.1 | AMD23 |
| Serum peptidase 1 (HTRA1) | Regulates cell growth | 10q25.2-q26.2 | Bilateral wet AMD21,24,25 |
| Transferrin (Tf) | Iron binding protein | 3q29 | AMD in smokers62,63 |
| Voltage-dependent calcium channel 3 (CACNG3) | L-type calcium channel protein | 16p12 | AMD47 |