TABLE 2.
Studies that examined relations of genes with MX status and AMD1
| Relation |
|||||||
| Gene-MX status |
Gene-AMD |
||||||
| Action on MXs (reference) | Gene symbol | In vitro | In/ex vivo | Human | In vitro | In/ex vivo | Human |
| 1. Uptake, transport, and accretion of MXs | |||||||
| MX transport in intestine, choroid, RPE | CD36 (125) | ARPE-19 (126) | — | (127) | (128) | CD36−/− (128–130) | (131) |
| MX transport in intestine, choroid, RPE | SCARB1 (125) | ARPE-19 (126) | Fly (132–134) | (135) | — | SCARB−/− (136) | (137) |
| MX accretion/transport in OPL (137) | Tubulins (55) | — | Primate (179) | (140) | — | — | (141) |
| MX transport in circulation | APOE (142) | — | ApoE−/− (143) | MPOD (144, 145) | — | — | (146–154) |
| MX transport /binding on HDL-C | ABCA1 (125) | — | WHAM−/− (124) | — | — | Human (155) | (156–160) |
| MX transport /binding on HDL-C | APOA1 (125) | — | WHAM−/− (124) | — | — | — | (161) |
| Specific zeaxanthin uptake in retina | GSTP1 (57) | — | — | Retina (55, 57) | — | — | (162, 163) |
| Specific lutein uptake in retina | STARD3 (56) | — | Human (56) | Retina (55, 56) | — | — | — |
| 2. Cleavage of MXs | |||||||
| 15,15′ (symmetric) cleavage | BCMO1 (164) | — | — | (165), MPOD (127) | — | — | — |
| 9′,10′ (eccentric) cleavage | BCO2 (264) | (91)2 | (166–169) | – | — | — | — |
| Synthesis/degradation of MX-rich HDL-C | LPL (169) | — | — | Serum (170) | — | — | (158, 160) |
| 3. Antioxidant potential | |||||||
| Structural integrity of DNA | POLB, POLL | (171) | — | — | — | — | — |
| 4. Effect on adaptive cellular response | |||||||
| Adhesion complex signaling | Connexins | (96) | — | — | (172) | — | — |
| Proliferation/apoptosis | CDK2, CCND1 | (91)2 | — | — | – | — | — |
| 5. Interference with growth factors | IGF genes | (91)2 | — | — | (173) | — | (174, 175)3 |
| 6. Diseases associated with low MX status | |||||||
| Sjögren-Larsson syndrome | ALDH3A2 | — | — | Retina (176) | — | — | — |
| Stargardt disease 1/cone-rod dystrophy | ABCA4 (177) | — | — | (21) | — | — | (177–184) |
Numbers in parentheses correspond to reference numbers. Full names for genes represented by symbols are available from http://www.ncbi.nlm.nih.gov/gene. References in the “Gene symbol” column refer to immunolocalization studies in primate retina. AMD, age-related macular degeneration; ApoE, apolipoprotein E; ARPE-19, human retinal pigment epithelium immortalized cell line; CD36, CD36 molecule (thrombospondin receptor); HDL-C, HDL cholesterol; MPOD, macular pigment optical density; MX, macular xanthophyll; OPL, outer plexiform layer; RPE, retinal pigmented epithelium; SCARB, scavenger receptor class B; WHAM, Wisconsin hypoalpha mutant; −/−, double knockout.
Evidence based on tests with lycopene.
Retinopathy endpoint.