All SNPs assessed were in Hardy-Weinberg equilibrium (HWE) and 9 of the 18 SNPs showed statistically significant association with AMD (
P < 0.05,
Table 1 ). Genotype frequencies for each SNP assessed in the study have been presented
(Table 2) . The association for SNPs rs1048709 (
P = 0.11) and rs2072633 (
P = 0.05) did not reach significance, in agreement with previous reports.
6 7 The odds ratio and marginally significant association of rs9332739 supported the findings of Spencer et al.,
7 in contrast to those initially reported.
6 SNPs rs641153 (OR, 0.40; confidence interval [CI], 0.24–0.65;
P < 0.0001), rs1042663 (OR, 0.47; CI, 0.30–0.72;
P < 0.001), and rs438999 (OR, 0.48; CI, 0.31–0.74;
P < 0.001) showed the strongest association, reporting a similar effect as expected for markers with
r 2 ≥ 0.95
(Fig. 1) . Both of the previous studies reported rs641153 (
CFB R32Q) to be significantly associated with AMD. We have shown in this study that rs438999, a nonsynonymous coding SNP (R151Q) located within exon 5 of the
SKIV2L gene, and rs1042663, a synonymous coding SNP in exon 8 of
CC2 (A341A), are also in strong LD (
r 2 = 0.95). The minor alleles of SNPs rs3020644, rs4151657, and rs2072632 which showed a similar magnitude of risk (OR > 1.43;
P < 0.01) and were in strong LD (
r 2 = 0.71–0.89). SNPs rs9332739 and rs4151672 showed an identical effect (OR, 0.52;
P = 0.04) and were in complete LD (
r 2 = 1) and also with rs4151667 (
CFB L9H), as reported previously.
7 Associated haplotype frequencies in case and control cohorts are presented with the respective odds ratios with confidence intervals and the probabilities calculated
(Table 3) .