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. Author manuscript; available in PMC: 2014 Jan 23.
Published in final edited form as: Ophthalmology. 2012 Jun 15;119(9):1874–1885. doi: 10.1016/j.ophtha.2012.03.014

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