Table 3.
Allele and genotype distribution of selected SNPs in congenital cataract cases
| Gene (SNP) | Allele/Genotype | Cases (n=141) | Controls (n=107) | OR [95% CI] | χ 2 | P | P (HWE) |
|---|---|---|---|---|---|---|---|
| CRYAA (rs3788059) | G | 244 (0.865) | 205 (0.958) | - | - | - | C=0.69; CT=0.65 |
| A | 38 (0.135) | 9 (0.042) | 3.55 [1.68, 7.51] | 12.19 | 0.0005 | ||
| GG | 1.5 (0.745) | 98 (0.916) | - | - | - | ||
| AG | 34 (0.241) | 9 (0.084) | 3.53 [1.61, 7.73] | 10.8 | 0.001 | ||
| AA | 2 (0.014) | 0 (0.000) | 4.67 [0.22, 98.45] | 1.85 | 0.170 | ||
| CRYAB (rs2070894) | G | 202 (0.716) | 137 (0.640) | - | - | - | C=0.0005; CT=7.04-008 |
| A | 80 (0.284) | 77 (0.360) | 0.7 [0.48, 1.03] | 3.26 | 0.071 | ||
| GG | 64 (0.454) | 31 (0.290) | - | - | - | ||
| AG | 74 (0.525) | 75 (0.701) | 0.48 [0.28, 0.82] | 7.4 | 0.007 | ||
| AA | 3 (0.021) | 1 (0.009) | 1.45 [0.15, 14.54] | 0.1 | 0.750 | ||
| CRYBA4 (rs2071861) | A | 167 (0.592) | 136 (0.636) | - | - | - | C=0.02; CT=0.02 |
| G | 115 (0.408) | 78 (0.364) | 1.2 (0.83, 1.73] | 0.96 | 0.327 | ||
| AA | 56 (0.397) | 49 (0.458) | - | - | - | ||
| AG | 55 (0.390) | 38 (0.355) | 1.27 [0.72, 2.23] | 0.68 | 0.411 | ||
| GG | 30 (0.213) | 20 (0.187) | 1.31 [0.66, 2.60] | 0.61 | 0.440 | ||
| CRYBB2 (rs5752083) | C | 140 (0.496) | 104 (0.486) | - | - | - | C=1.14e−007; CT=1.94e−016 |
| A | 142 (0.504) | 110 (0.514) | 0.96 [0.67, 1.37] | 0.05 | 0.817 | ||
| CC | 19 (0.135) | 4 (0.135) | - | - | - | ||
| AC | 102 (0.723) | 96 (0.897) | 0.22 [0.07, 0.68] | 8.04 | 0.005 | ||
| AA | 20 (0.142) | 7 (0.065) | 0.60 [0.15, 2.40] | 0.53 | 0.470 | ||
| CRYBB2 (rs5996863) | C | 120 (0.426) | 100 (0.467) | - | - | - | C=1.24e−013; CT=1.03e−012 |
| T | 162 (0.574) | 114 (0.533) | 1.18 [0.83, 1.69] | 0.86 | 0.354 | ||
| CC | 4 (0.028) | 5 (0.047) | - | - | - | ||
| CT | 112 (0.794) | 90 (0.841) | 1.56 [0.41, 5.96] | 0.42 | 0.520 | ||
| TT | 25 (0.177) | 12 (0.112) | 2.60 [0.59, 11.49] | 1.66 | 0.200 |
SNP: Single nucleotide polymorphism, C: Cases; CT: Controls, HWE: Hardy-Weinberg equilibrium, OR: Odds ratio, CI: Confidence interval