Table 1.
Selected polymorphisms that confer AMD risk.
| Gene | Loci | Function | Odds Ratio | References |
|---|---|---|---|---|
|
| ||||
| C2/CFB (Complement 2/Complement factor B) | 6p21 | Regulator of complement activation | Het=0.32–0.40 | Gold et al Nat Genet. 2006 [9] |
|
| ||||
| C3 (Complement 3) | 19p13 | Innate immunity (classical pathway component, alternative complement pathway activator) | Homo=1.93–3.91 | Yates et al. NEJM. 2007 [10] |
|
| ||||
| CFH (Complement factor H) | 1q32 | Regulator of alternative complement pathway | Homo=6.32 | Klein et al. Science. 2005 [11] |
| Edwards et al. Science. 2005 [12] | ||||
| Haines et al. Science. 2005; [13] | ||||
| Hageman et al. PNAS. 2005 [14] | ||||
|
| ||||
| CFHR1/CFHR3 (Complement factor H-related 1, 3) | 1q31- q32 | Unknown, possible overlapping function with CFH | Homo=0.29 | Spencer et al. Hum Mol Genet. 2008 [15] |
|
| ||||
| CFI (Complement Factor I) | 4q25 | C3b/C4b inactivator | Homo=0.28 | Kondo, N, Eur J Hum Genet 2010 [16] |
|
| ||||
| CX3CR1 (Chemokine [C-X3-C motif] receptor 1) | 3p21 | Inflammation (chemokine receptor) | Homo=3.57 | Tuo et al. FASEB J. 2004 [17] |
|
| ||||
| ARMS2/LOC3877 15 (Age-related maculopathy susceptibility 2) | 10q26 | Unknown; Localized to mitochondrial outer membrane | Homo=8.59 | Rivera et al. Hum Mol Genet. 2005 [18] |
|
| ||||
| HTRA1 (High temperature requirement A1) | 10q26 | Serine protease | Homo=6.92, 7.46 | Dewan et al. Science. 2006 [19] |
| Yang et al. Science. 2006 [20] | ||||
|
| ||||
| A4917G | mitDNA | Unknown; T haplogroup polymorphism | Homo=2.16 | Canter et al. PLoS One. 2008 [21] |
|
| ||||
| SOD2 (Superoxide dismutase 2) | 6q25 | Mitochondrial matrix enzyme that scavenges oxygen radicals | Homo=1.79 | Kondo et al. Mol Vis. 2009 [22] |
|
| ||||
| ABCA4 (ATP-binding cassette, sub-family A, member 4) | 1p22 | Transport of N-retinylidene-PE across photorecptor outer segment disc membrane | Het=5.0 | Allikmets et al. Am J Hum Genet. 2000 [23] |
|
| ||||
| APOE (Apolipoprotein E) | 19q13 | Cholesterol and lipid transport | Homo=1.046 | Thakkinstian et al Am J Epidemiol. 2006 [24] |
|
| ||||
| CETP (Cholesteryl ester transfer protein) | 16q21 | Transfer of cholesteryl esters between lipoproteins | Het=2.69 Homo=8.21 | Rivera A. Hum Mol Genet. 2005 [18] |
|
| ||||
| LPL (Lipoprotein Lipase) | 8p21 | Hydrolization of triglycerides in lipoproteins | Homo=0.82 | Neale et al. PNAS. 2010 [25] |
|
| ||||
| LIPC (Lipase C) | 15q21-q23 | Hepatic triglyceride lipase | Homo=0.39 | Yu et al. Invest Ophthalmol Vis Sci. 2011 [26] |
|
| ||||
| ERCC6 (Excision- repair cross-complementing, group 6) | 10q11 | DNA repair | Homo=1.6 | Tuo J. Proc Natl Acad Sci U S A. 2006 Jun 13;103(24):9256-61. [17] |
Het, heterozygous; Homo, homozygous.