Table 2.
Genome-wide association “discovery” analysis comparing participants with choroidal neovascularization to participants with geographic atrophy
| CHR | GENE | SNP | BP | EA | Freq CNV | Freq GA | INFO | OR | L95 | U95 | P |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Most highly associated SNPs | |||||||||||
| 10 | ARMS2/HTRA1 | rs10490924 | 124214448 | T | 0.438 | 0.364 | 0.92 | 1.47 | 1.28 | 1.69 | 4.3 ×10−9 |
| 11 | Near QSER1 | rs4755455 | 32903318 | C | 0.186 | 0.13 | 0.94 | 1.59 | 1.33 | 1.90 | 2.1 ×10−7 |
| 12 | KCTD10 | rs56209061 | 109905685 | A | 0.052 | 0.083 | 0.97 | 0.55 | 0.43 | 0.70 | 1.4 ×10−6 |
| 2 | Near BC017935 | rs1108738 | 227078645 | T | 0.012 | 0.025 | 0.53 | 0.23 | 0.12 | 0.43 | 3.2 ×10−6 |
| 19 | Near LILRA4 | rs10405172 | 54856550 | T | 0.818 | 0.787 | 0.33 | 1.85 | 1.43 | 2.39 | 3.8 ×10−6 |
| 12 | Near NUDT4 | rs7973431 | 93641198 | T | 0.335 | 0.276 | 0.91 | 1.38 | 1.20 | 1.58 | 3.9 ×10−6 |
| 5 | Near RASA1 | rs62367737 | 86393085 | A | 0.914 | 0.889 | 0.38 | 2.12 | 1.55 | 2.90 | 4.6 ×10−6 |
| 10 | Near ADARB2 | rs34167775 | 1942152 | A | 0.051 | 0.085 | 0.94 | 0.57 | 0.45 | 0.72 | 5.0 ×10−6 |
| 20 | NFATC2 | rs11697536 | 50108389 | T | 0.04 | 0.03 | 0.16 | 7.61 | 3.21 | 18.03 | 5.0 ×10−6 |
| 17 | Near UTP18 | rs4794243 | 49449132 | T | 0.624 | 0.669 | 0.50 | 0.67 | 0.56 | 0.80 | 5.5 ×10−6 |
| SNPs previously associated with overall advanced AMD (other than ARMS2/HTRA1 above) | |||||||||||
| 16 | CETP | rs3764261 | 56993324 | A | 0.369 | 0.34 | 0.99 | 1.13 | 1.00 | 1.27 | 0.054 |
| 22 | TIMP3 | rs9621532 | 31414511 | A | 0.967 | 0.956 | 1.00 | 1.29 | 0.96 | 1.73 | 0.10 |
| 19 | C3 | rs2230199 | 6718387 | C | 0.239 | 0.254 | 0.59 | 0.87 | 0.73 | 1.04 | 0.11 |
| 6 | C2 | rs9332739 | 31903804 | C | 0.025 | 0.02 | 0.89 | 1.30 | 0.84 | 2.00 | 0.24 |
| 6 | FRK/COL10A1 | rs1999930 | 116387134 | T | 0.262 | 0.253 | 0.95 | 1.05 | 0.92 | 1.20 | 0.49 |
| 3 | COL8A1 | rs13095226 | 99396272 | T | 0.880 | 0.871 | 1.00 | 1.07 | 0.89 | 1.27 | 0.49 |
| 1 | CFH | rs1061170 | 196659237 | T | 0.394 | 0.384 | 0.99 | 1.03 | 0.92 | 1.16 | 0.63 |
| 6 | VEGFA | rs4711751 | 43828582 | T | 0.534 | 0.537 | 0.73 | 0.99 | 0.86 | 1.14 | 0.86 |
| 4 | CFI | rs10033900 | 110659067 | T | 0.52 | 0.521 | 0.85 | 0.99 | 0.86 | 1.14 | 0.88 |
| 6 | CFB | rs641153 | 31914180 | A | 0.052 | 0.055 | 0.86 | 0.98 | 0.74 | 1.29 | 0.90 |
| 15 | LIPC | rs10468017 | 58678512 | T | 0.257 | 0.256 | 0.80 | 1.01 | 0.86 | 1.18 | 0.94 |
| 9 | ABCA1 | rs1883025 | 107664301 | T | 0.256 | 0.257 | 0.92 | 1.00 | 0.86 | 1.14 | 0.95 |
CHR= chromosome, SNP= single nucleotide polymorphism, BP= base position, EA= Effective allele (frequency and odds ratios are based on this allele), Freq = frequency, INFO= information content, OR= odds ratios, L95 = lower 95% confidence interval, U95= upper 95% confidence interval, AMD=age-related macular degeneration
P values - comparing effective allele frequencies in patients with choroidal neovascularization vs. patients with geographic atrophy