Table 1.
Distribution of allele frequencies in different candidate genes in AMD in the Indian cohort
Gene | Chromosomal location | Total SNPs screened | Associated SNP(s) | Associated allele | Frequency in AMD cases | Frequency in normal controls | P | Odds ratio (95% confidence interval) |
FBLN6 | 1q24-q25 | 20 | rs721153 | C | 0.503 | 0.420 | 0.0275 | 1.39 (1.04–1.88) |
FBLN5 | 14q32.1 | 18 | rs929608 | A | 0.537 | 0.454 | 0.0287 | 1.39 (1.03–1.87) |
rs741198 | G | 0.825 | 0.754 | 0.0216 | 1.53 (1.06–2.21) | |||
rs1861085 | G | 0.709 | 0.617 | 0.0099 | 1.51 (1.10–2.07) | |||
rs2160079 | C | 0.740 | 0.649 | 0.0084 | 1.54 (1.18–2.13) | |||
MMP2 | 16q13 | 10 | rs9302671 | A | 0.271 | 0.194 | 0.0158 | 1.54 (1.08–2.20) |
rs2241145 | C | 0.565 | 0.480 | 0.0240 | 1.41 (1.05–1.89) | |||
rs243836 | G | 0.525 | 0.420 | 0.0051 | 1.53 (1.13–2.06) | |||
TIMP3 | 22q12.1-q13.2 | 24 | rs713685* | C | 0.907 | 0.677 | 5.74 × 10−14 | 4.64 (3.04–7.08) |
rs6518799 | A | 0.119 | 0.051 | 0.0014 | 2.48 (1.40–4.40) | |||
rs743751* | G | 0.136 | 0.054 | 2.0 × 10−4 | 2.73 (1.57–4.75) | |||
MMP1 | 11q22-q23 | 4 | — | — | — | — | — | — |
MMP3 | 11q23 | 4 | — | — | — | — | — | — |
DCN | 12q21.3 | 10 | — | — | — | — | — | — |
LUM | 12q21.3-q22 | 6 | — | — | — | — | — | — |
EPYC | 12q21 | 3 | — | — | — | — | — | — |
TIMP2 | 17q25 | 14 | — | — | — | — | — | — |
MMP9 | 20q11.2-q13.1 | 8 | — | — | — | — | — | — |
*SNPs that withstood Bonferroni correction.