Table 1.
SNPs significantly associated with AMD.
| SNP (gene) | Variant localization | Allele count in cases (frequency) | Allele count in ref subjects (frequency) | p-value | q-value | OR (95%CI) |
|---|---|---|---|---|---|---|
| rs10490924, G/T (ARMS2) | Exonic | G: 462 (0.64) T: 262 (0.36) |
G: 810 (0.80) T: 196 (0.20) |
1.17 * 10−14 | 4.84 * 10−13 | T = 2.34 (1.87–2.93) |
| rs1800795, C/G (IL6) | Intronic | C: 203 (0.28) G: 531 (0.72) |
C: 418 (0.42) G: 588 (0.58) |
2.09 * 10−9 | 5.78 * 10−8 | G = 1.88 (1.51–2.32) |
| rs429358, T/C (APOE) | Exonic | T: 655 (0.93) C: 53 (0.07) |
T: 850 (0.84) C: 156 (0.16) |
4.16 * 10−7 | 8.61 * 10−6 | T = 2.27 (1.63–3.22) |
| rs2248359, C/T (CYP24A1) | Regulatory region | C: 347 (0.48) T: 375 (0.52) |
C: 597 (0.59) T: 409 (0.41) |
4.03 * 10−6 | 6.68 * 10−5 | T = 1.57 (1.29–1.92) |
| rs2248137, C/G (CYP24A1) | Intronic | C: 344 (0.49) G: 362 (0.51) |
C: 599 (0.60) G: 407 (0.40) |
1.10 * 10−5 | 0.0001 | G = 1.54 (1.26–1.88) |
| rs2300747, A/G (CD58) | Intronic | A: 621 (0.92) G: 57 (0.08) |
A: 863 (0.86) G: 143 (0.14) |
0.0002 | 0.003 | A = 1.81 (1.29–2.56) |
| rs11614913, C/T (MIR196A2) | Mature miRNA | C: 486 (0.68) T: 234 (0.32) |
C: 593 (0.59) T: 413 (0.41) |
0.0003 | 0.003 | C = 1.44 (1.20–1.78) |
| rs2283792, T/G (MAPK1) | Intronic | T: 280 (0.40) G: 430 (0.60) |
T: 483 (0.48) G: 523 (0.52) |
0.0004 | 0.004 | G = 1.42 (1.16–1.75) |
| rs12722489, C/T (IL2RA) | Intronic | C: 671 (0.91) T: 65 (0.09) |
C: 863 (0.86) T: 143 (0.14) |
0.0005 | 0.004 | C = 1.72 (1.25–2.38) |
| rs1077667, C/T (TNFSF14) | Intronic | C: 602 (0.84) T: 116 (0.16) |
C: 776 (0.77) T: 230 (0.23) |
0.0006 | 0.004 | C = 1.53 (1.20–2.0) |
| rs3745453, A/G (ZSWIM4) | 3′UTR | A: 530 (0.75) G: 172 (0.25) |
A: 683 (0.68) G: 323 (0.32) |
0.0006 | 0.004 | A = 1.47 (1.17–1.85) |
| rs3745198, C/G (MIR6796) | Mature miRNA | C: 419 (0.61) G: 263 (0.39) |
C: 537 (0.53) G: 469 (0.47) |
0.001 | 0.007 | C = 1.41 (1.13–1.72) |
| rs35349669, C/T (INPP5D) | Intronic | C: 454 (0.62) T: 282 (0.38) |
C: 543 (0.54) T: 463 (0.46) |
0.001 | 0.008 | C = 1.38 (1.13–1.69) |
| rs3734050, C/T (MIR6499) | Mature miRNA | C: 685 (0.93) T: 49 (0.07) |
C: 897 (0.89) T: 109 (0.11) |
0.003 | 0.01 | C = 1.72 (1.20–2.50) |
| rs13401, G/A (ATF6) | 3′UTR | G: 208 (0.28) A: 520 (0.71) |
G: 225 (0.22) A: 781 (0.78) |
0.003 | 0.01 | G = 1.38 (1.10–1.73) |
| rs10889677, C/A (IL23R) | 3′UTR variant | C: 457 (0.63) A: 263 (0.37) |
C: 706 (0.70) A: 300 (0.30) |
0.003 | 0.01 | A = 1.35 (1.10–1.66) |
| rs2104286, T/C (IL2RA) | Intronic | T: 596 (0.84) C: 116 (0.16) |
T: 785 (0.78) C: 221 (0.22) |
0.003 | 0.01 | T = 1.44 (1.12–1.88) |
| rs755622, G/C (MIF) | Intronic | G: 613 (0.87) C: 95 (0.13) |
G: 819 (0.81) C: 187 (0.19) |
0.004 | 0.01 | G = 1.49 (1.12–1.96) |
| rs670139, G/T (MS4A4E) | Intronic | G: 461 (0.68) T: 221 (0.32) |
G: 611 (0.60) T: 395 (0.40) |
0.004 | 0.01 | G = 1.35 (1.10–1.66) |
| rs10466829, G/A (CLECL1) | Intronic | G: 321 (0.44) A: 405 (0.56) |
G: 515 (0.51) A: 491 (0.48) |
0.004 | 0.01 | A = 1.32 (1.10–1.61) |
| rs62182086, A/G (MIR6810) | Mature miRNA | A: 642 (0.90) G: 68 (0.10) |
A: 866 (0.86) G: 140 (0.14) |
0.006 | 0.02 | A = 1.53 (1.12–2.12) |
| rs3746444, A/G (MIR499A) | Mature miRNA | A: 536 (0.75) G: 174 (0.25) |
A: 811 (0.80) G: 195 (0.20) |
0.01 | 0.04 | G = 1.34 (1.10–1.71) |
| rs2925980, A/G (MIR7854) | Mature miRNA | A: 415 (0.62) G: 253 (0.38) |
A: 685 (0.68) G: 321 (0.32) |
0.01 | 0.04 | G = 1.30 (1.10–1.60) |
OR, odds ratio; CI, confidence interval; Ref, reference; SNP, single-nucleotide polymorphism; AMD, age-related macular degeneration.