Table 2.
Genotypic associations with optical coherence tomography (OCT) drusen area, drusen volume and area of retinal pigment epithelium (RPE) atrophy from univariate analysis and multivariate analysis § (216 subjects, 432 eyes).
| SNP | Genotype | N | Drusen Area in mm2: Mean (SE) | Drusen Volume in mm3: Mean (SE) | Area of RPE Atrophy in mm2: Mean (SE) | ||
|---|---|---|---|---|---|---|---|
| Central Circle | Perifoveal Ring | Central Circle | Perifoveal Ring | ||||
| normal/(risk) SYN3 C/(G) rs5749482 | GG | 198 | 0.23 (0.05) | 0.18 (0.04) | 0.02 (0.01) | 0.008 (0.002) | 0.50 (0.11) |
| CG | 18 | 0.06 (0.04) | 0.03 (0.02) | 0.002 (0.002) | 0.002 (0.001) | 0.19 (0.11) | |
| CC | 0 | - | - | - | - | - | |
| Univariate P * | 0.02 | 0.006 | 0.02 | 0.03 | 0.07 | ||
| Adjusted Slope (SE) † | 0.11 (0.06) | 0.09 (0.04) | 0.01 (0.005) | 0.004 (0.002) | 0.09 (0.16) | ||
| Multivariate P† | 0.08 | 0.03 | 0.04 | 0.09 | 0.58 | ||
| Multiple comparison adjusted P by global FDR ‡ | 0.36 | 0.26 | 0.26 | 0.36 | 0.84 | ||
| (risk)/normal LIPC (C)/G rs920915 | CC | 58 | 0.26 (0.08) | 0.24 (0.08) | 0.02 (0.01) | 0.01 (0.01) | 0.78 (0.29) |
| CG | 122 | 0.22 (0.07) | 0.15 (0.04) | 0.02 (0.01) | 0.007 (0.002) | 0.40 (0.11) | |
| GG | 37 | 0.11 (0.03) | 0.09 (0.04) | 0.004 (0.001) | 0.004 (0.002) | 0.22 (0.09) | |
| Univariate Linear Trend P * | 0.16 | 0.14 | 0.28 | 0.19 | 0.08 | ||
| Adjusted Slope (SE) † | 0.06 (0.05) | 0.07 (0.04) | 0.005 (0.004) | 0.004 (0.003) | 0.21 (0.13) | ||
| Multivariate Linear Trend P† | 0.16 | 0.14 | 0.26 | 0.20 | 0.12 | ||
| Multiple comparison adjusted P by global FDR ‡ | 0.49 | 0.47 | 0.69 | 0.57 | 0.44 | ||
| normal/(risk) ARMS2 G/(T) rs10490924 | TT | 20 | 0.48 (0.14) | 0.39 (0.10) | 0.02 (0.01) | 0.01 (0.00) | 1.48 (0.55) |
| GT | 81 | 0.15 (0.05) | 0.13 (0.05) | 0.008 (0.003) | 0.005 (0.002) | 0.45 (0.18) | |
| GG | 114 | 0.21 (0.07) | 0.15 (0.05) | 0.02 (0.01) | 0.008 (0.003) | 0.31 (0.10) | |
| Univariate Linear Trend P * | 0.40 | 0.20 | 0.48 | 0.77 | 0.045 | ||
| Adjusted Slope (SE) † | 0.04 (0.07) | 0.05 (0.05) | −0.01 (0.01) | −0.0003 (0.003) | 0.37 (0.18) | ||
| Multivariate Linear Trend P† | 0.59 | 0.41 | 0.41 | 0.92 | 0.051 | ||
| Multiple comparison adjusted P by global FDR ‡ | 0.84 | 0.77 | 0.77 | 0.95 | 0.26 | ||
| (risk)/normal C3 (C)/G rs2230199 | CC | 1 | 0.20 (0.00) | 0.05 (0.00) | 0.008 (0.000) | 0.002 (0.000) | 1.60 (0.00) |
| CG | 22 | 0.30 (0.13) | 0.20 (0.10) | 0.01 (0.01) | 0.007 (0.004) | 0.68 (0.43) | |
| GG | 194 | 0.20 (0.05) | 0.16 (0.04) | 0.01 (0.01) | 0.008 (0.002) | 0.44 (0.10) | |
| Univariate Linear Trend P * | 0.51 | 0.80 | 0.82 | 0.78 | 0.45 | ||
| Adjusted Slope (SE) † | 0.08 (0.12) | 0.01 (0.09) | −0.001 (0.01) | −0.002 (0.004) | 0.27 (0.37) | ||
| Multivariate Linear Trend P† | 0.50 | 0.91 | 0.91 | 0.66 | 0.48 | ||
| Multiple comparison adjusted P by global FDR ‡ | 0.77 | 0.95 | 0.95 | 0.88 | 0.77 | ||
| normal/(risk) CFB A/(G) rs429608 | GG | 196 | 0.21 (0.04) | 0.17(0.04) | 0.01(0.00) | 0.008(0.002) | 0.49(0.11) |
| AG | 19 | 0.23 (0.20) | 0.12(0.10) | 0.03(0.02) | 0.008(0.008) | 0.33(0.21) | |
| AA | 2 | 0.000 (0.000) | 0.02 (0.02) | 0.000 (0.000) | 0.001 (0.001) | 0.12 (0.09) | |
| Univariate Linear Trend P * | 0.90 | 0.43 | 0.73 | 0.88 | 0.35 | ||
| Adjusted Slope (SE) † | 0.02 (0.14) | 0.06 (0.08) | −0.01 (0.02) | 0.001 (0.01) | 0.13 (0.16) | ||
| Multivariate Linear Trend P† | 0.90 | 0.47 | 0.75 | 0.89 | 0.46 | ||
| Multiple comparison adjusted P by global FDR ‡ | 0.95 | 0.77 | 0.94 | 0.95 | 0.77 | ||
| (risk)/normal CETP (A)/C rs3764261 | AA | 21 | 0.10 (0.06) | 0.09 (0.05) | 0.003 (0.002) | 0.003 (0.002) | 0.57 (0.36) |
| AC | 97 | 0.28 (0.07) | 0.20 (0.06) | 0.02 (0.01) | 0.01 (0.00) | 0.51 (0.16) | |
| CC | 96 | 0.17 (0.06) | 0.16 (0.05) | 0.01 (0.01) | 0.006 (0.002) | 0.42 (0.14) | |
| Univariate Linear Trend P * | 0.71 | 0.91 | 0.96 | 0.83 | 0.63 | ||
| Adjusted Slope (SE) † | 0.03 (0.05) | 0.002 (0.04) | 0.001 (0.01) | 0.001 (0.002) | 0.14 (0.16) | ||
| Multivariate Linear Trend P† | 0.62 | 0.97 | 0.93 | 0.72 | 0.37 | ||
| Multiple comparison adjusted P by global FDR ‡ | 0.86 | 0.97 | 0.95 | 0.93 | 0.77 | ||
| normal/(risk) CFI C/(T) rs10033900 | TT | 17 | 0.14 (0.09) | 0.06 (0.02) | 0.01 (0.01) | 0.002 (0.001) | 0.32 (0.25) |
| CT | 115 | 0.19 (0.04) | 0.18 (0.05) | 0.010 (0.004) | 0.008 (0.003) | 0.55 (0.15) | |
| CC | 85 | 0.26 (0.09) | 0.17 (0.06) | 0.02 (0.01) | 0.009 (0.003) | 0.39 (0.16) | |
| Univariate Linear Trend P * | 0.36 | 0.51 | 0.30 | 0.44 | 0.72 | ||
| Adjusted Slope (SE) † | −0.07 (0.07) | −0.03 (0.05) | −0.01 (0.01) | −0.002 (0.003) | 0.03 (0.16) | ||
| Multivariate Linear Trend P† | 0.36 | 0.50 | 0.31 | 0.47 | 0.84 | ||
| Multiple comparison adjusted P by global FDR ‡ | 0.77 | 0.77 | 0.77 | 0.77 | 0.95 | ||
| normal/(risk) CFH A/(G) rs12038333 | GG | 49 | 0.30 (0.08) | 0.29 (0.08) | 0.01 (0.00) | 0.01 (0.00) | 1.15 (0.32) |
| AG | 99 | 0.26 (0.08) | 0.19 (0.06) | 0.02 (0.01) | 0.01 (0.00) | 0.36 (0.13) | |
| AA | 69 | 0.08 (0.04) | 0.04(0.02) | 0.005 (0.003) | 0.002 (0.001) | 0.14 (0.07) | |
| Univariate Linear Trend P * | 0.007 | 0.002 | 0.049 | 0.002 | 0.003 | ||
| Adjusted Slope (SE) † | 0.11 (0.04) | 0.12 (0.04) | 0.01 (0.003) | 0.005 (0.002) | 0.43 (0.14) | ||
| Multivariate Linear Trend P † | 0.008 | 0.001 | 0.050 | 0.002 | 0.004 | ||
| Multiple comparison adjusted P by global FDR ‡ | 0.08 | 0.04 | 0.26 | 0.04 | 0.053 | ||
§ Adjusted by age, gender and smoking status; * From univariate analysis (without adjustment by any other risk factors of age-related macular degeneration (AMD)) for testing whether OCT measures were associated with the number of risk alleles; † From multivariate analysis (with adjustment by age, gender and smoking status) for testing whether OCT measures were associated with the number of risk alleles; ‡ Adjusted using global FDR (false discovery rate) for multiple comparisons from eight SNPs and five OCT measurements (i.e., adjustment for a total of 40 tests) for p-values from multivariate analysis.