Table 1 of Parmalee, Mol Vis 2010; 16:2718-2726. Table 1 of Parmalee, Mol Vis 2010; 16:2718-2726.
Table 1. Genes sequenced and missense variants detected by Sanger sequencing in 8 macular telangiectasia probands.
Gene/ category |
Variant |
rs number |
MAF MacTel cases (400 chromosomes) /MAF AMD cases (1278 chromosomes) |
MAF Controls (736 chromosomes) |
MAF dbSNP |
Notes |
|---|---|---|---|---|---|---|
| Vascular / angiogenic | ||||||
| AGGF1 | p.Pro698Thr | rs34400049 | NS | NS | 0.28 | FV, DNS |
| ANG1 | p.Thr257Arg | - | 0.005 (1/400) | 0 (0/736) | - | DNS |
| DKK1 | None | |||||
| FZD4 | p.Pro33Ser | rs61735304 | 0.02 (6/400)/.03 (17/1278) | 0.01 (13/736) | ND | DNS, MT, AMD |
| p.Pro168Ser | - | NS | NS | - | Allelic with P33S | |
| HIF1A | None | |||||
| LRP5 | p.Val667Met | rs4988321 | 0.07 (28/400) | 0.06 (41/736) | 0.03 | MT, DNS |
| p.Gln1192Arg | - | 0.005 (1/400) | 0 (0/736) | - | MT, DNS | |
| p.Ala1130Val | rs3736228 | NS | NS | 0.12 | FV, DNS | |
| NDP | None | |||||
| PEDF | p.Thr72Met | rs1136287 | 0.37 (148/400)/.34 433/1278) | 0.33 (245/736) | 0.36 | FV, MT, AMD |
| THBS1 | p.Thr523Ala | rs2292305 | NS | NS | 0.1 | FV, DNS |
| TIE2 | p.Val486Ile | rs1334811 | NS | NS | 0.03 | DNS |
| p.Val600Leu | rs35030851 | NS | NS | 0.04 | DNS | |
| VHL | None | |||||
| Expression microarray | ||||||
| AGTRL1 | None | |||||
| APLN | None | |||||
| CFB | p.Leu9His | rs4151667 | 0.04 (16/400)/.02 (23/1278) | 0.04 (29/736) | 0.07 | DNS, MT, AMD |
| p.Arg32Gln | rs641153 | 0.10 (40/400)/.04 (51/1278) | 0.12 (88/736) | 0.1 | DNS, MT, AMD | |
| p.Gly252Ser | rs4151651 | NS | NS | 0.04 | DNS | |
| p.Lys533Arg | - | 0.04/.02 (23/1278) | 0.04 (29/736) | - | DNS, AMD, LD | |
| LRG1 | p.Pro133Ser | rs966384 | NS | NS | 0.35 | DNS, FV |
| PLVAP | ||||||
| Macular pigment | ||||||
| GSTP1 | p.Ile105Val | rs1695 | 0.33 (132/400)/.30 (383/1278) | 0.3 | 0.39 | MT, AMD, FV |
| p.Ala114Val | rs1138272 | 0.08 (32/400)/.07 (87/1278) | 0.06 (46/736) | 0.12 | MT, AMD, FV | |
| SCARB1 | p.Val135Ile | rs5891 | 0.03 (12/400) | 0.02 (15/736) | 0.01 | MT DNS |
| p.Pro376Leu | rs74830677 | 0.01 (3/400) | 0.01 (5/736) | 0.05 | MT, DNS | |
| Genes under suggestive linkage peaks | ||||||
| CCM2 | p.Val120Ile | rs11552377 | NS | NS | 0.17 | FV, DNS |
| IGFBP3 | None | |||||
| SSPN | None | |||||
| TGFB2 | None | |||||
| Disease related genes | ||||||
| AGTR1 | p.Ala244Ser | rs12721225 | NS | NS | 0.03 | DNS |
| ALDH3A2 | None | |||||
| OXGR1 | p.Thr205Ala | - | 0.005 (1/400) | 0 (0/736) | - | DNS |
| SUCNR1 | None | |||||
| VLDLR | None | |||||