TABLE 1.
Genes and selected sequence variants associated with retinal status of MXs and AMD1
| Sequence variant (ref) |
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| Symbol | HDL function | Retinal MX status | AMD association | Model system (ref) |
| SCARB1 | LPB | rs10744182 (80) | rs5888 (97) | ARPE (118), mouse (122) |
| CD36 | LPI | rs1761667 (74) | rs3173789/rs3211883 (130) | ARPE (118), mouse (126–128) |
| ABCA1 | LPSBC | rs1929841 (80) | rs1883025 (81, 95) | hRPE (134), WHAM chick (106) |
| APOE | LPM | rs429358/rs7412 (73) | rs429358/rs7412 (113, 137) | Mouse (140) |
| LPL | LPM | — | rs12678919 (95) | Human (153) |
| CETP | LPT | — | rs1864163 (94) | Human (146) |
| LIPC | LPU | rs6078 (80) | rs920915 (94) | — |
Associations were determined with logistic regression, examining the likelihood of having advanced AMD, relative to the distribution of specific nucleotide bases for each of the sequence variants listed. The list of sequence variants is not comprehensive (see References for complete list). Full names and additional details on genes can be found at http://www.ncbi.nlm.nih.gov/gene. An additional AMD-associated single-nucleotide polymorphism exists in APOE rs4420638 (94). AMD, age-related macular degeneration; ARPE, differentiated human retinal pigment epithelial–derived cell line; hRPE, human retinal pigment epithelial cells; LPB, lipoprotein binding; LPI, lipoprotein internalization; LPM, lipoprotein metabolism; LPSBC, lipoprotein secretion by (efflux from) cells; LPT, transfer of lipoproteins; LPU, lipoprotein uptake at the cell surface; MX, macular xanthophyll; ref, reference number.