Table 2.
Association between Phenotype of High Myopia and Genetic Variants at 13q12.12 in the Han Chinese populations
| SNP | Position | Risk Allele | Dataseta | Number (Control/Case) | RAFb(Control/Case) | p_HWE (Control/Case) | p Valuec |
Odds ratio (95% CI)d |
|
|---|---|---|---|---|---|---|---|---|---|
| Homozygote | Heterozygote | ||||||||
| rs9510902 |
23328312 |
A |
GWAS (SH) | 0/419 | 0/0.520 | 0/0.344 | NA | NA | NA |
| FD1(WZ) | 2525/843 | 0.452/0.512 | 0.723/0.419 | 1.92 × 10−5 | 1.62 (1.29, 2.02) | 1.36 (1.13, 1.65) | |||
| FD2(CD) | 1890/549 | 0.454/0.520 | 0.455/0.546 | 1.06 × 10−4 | 1.71 (1.31, 2.23) | 1.20 (0.95, 1.52) | |||
| FD3(GD-HK) | 1227/1411 | 0.464/0.510 | 0.515/0.643 | 8.26 × 10−4 | 1.44 (1.16, 1.78) | 1.21 (1.01, 1.46) | |||
| Combined | 5642/3222 | 0.455/0.514 | 0.908/0.627 | 6.32 × 10−14 | 1.60 (1.41, 1.80) | 1.25 (1.12, 1.38) | |||
| rs9318086 |
23330467 |
A |
GWAS (SH) | 669/419 | 0.447/0.514 | 0.249/0.504 | 8.14 × 10−5 | 1.68 (1.19, 2.36) | 1.33 (0.99, 1.78) |
| FD1(WZ) | 2525/843 | 0.433/0.499 | 0.256/0.654 | 2.28 × 10−6 | 1.68 (1.35, 2.10) | 1.40 (1.16, 1.69) | |||
| FD2(CD) | 1890/549 | 0.435/0.513 | 0.963/0.532 | 5.09 × 10−6 | 1.86 (1.43, 2.44) | 1.30 (1.03, 1.63) | |||
| FD3(GD-HK) | 1227/1411 | 0.453/0.495 | 0.640/0.955 | 0.00217 | 1.40 (1.12, 1.74) | 1.22 (1.02, 1.46) | |||
| Combined | 6311/3222 | 0.439/0.502 | 0.178/0.806 | 1.91 × 10−16 | 1.64 (1.46, 1.85) | 1.32 (1.19, 1.46) | |||
| rs3794338 |
23331291 |
T |
GWAS (SH) | 0/419 | 0/0.419 | 0/0.176 | NA | NA | NA |
| FD1(WZ) | 2525/843 | 0.348/0.389 | 0.319/0.133 | 0.00227 | 1.45 (1.15, 1.84) | 1.13 (0.95, 1.34) | |||
| FD2(CD) | 1890/549 | 0.348/0.418 | 0.593/0.852 | 2.10 × 10−5 | 1.79 (1.35, 2.39) | 1.35 (1.10, 1.67) | |||
| FD3(GD-HK) | 1227/1411 | 0.363/0.395 | 0.288/0.066 | 0.0152 | 1.33 (1.05, 1.67) | 1.11 (0.94, 1.31) | |||
| Combined | 5642/3222 | 0.351/0.401 | 0.137/0.010 | 5.46 × 10−11 | 1.54 (1.35, 1.76) | 1.18 (1.07, 1.30) | |||
| rs1886970 |
23338498 |
G |
GWAS (SH) | 669/419 | 0.451/0.514 | 0.339/0.504 | 1.05 × 10−4 | 1.64 (1.16, 2.30) | 1.29 (0.96, 1.73) |
| FD1(WZ) | 2525/843 | 0.440/0.501 | 0.806/0.469 | 1.33 × 10−5 | 1.63 (1.30, 2.04) | 1.35 (1.12, 1.64) | |||
| FD2(CD) | 1890/549 | 0.438/0.512 | 0.766/0.711 | 1.67 × 10−5 | 1.81 (1.38, 2.37) | 1.28 (1.02, 1.62) | |||
| FD3(GD-HK) | 1227/1411 | 0.457/0.495 | 0.733/0.960 | 0.00512 | 1.36 (1.09, 1.69) | 1.19 (0.99, 1.42) | |||
| Combined | 6311/3222 | 0.444/0.502 | 0.636/0.945 | 2.31 × 10−14 | 1.59 (1.41, 1.80) | 1.27 (1.15, 1.41) | |||
| rs7325450 |
23365004 |
G |
GWAS (SH) | 0/419 | 0/0.504 | 0/0.558 | NA | NA | NA |
| FD1(WZ) | 2525/843 | 0.436/0.493 | 0.598/0.254 | 4.31 × 10−5 | 1.59 (1.27, 1.99) | 1.34 (1.11, 1.61) | |||
| FD2(CD) | 1890/549 | 0.427/0.492 | 0.767/0.373 | 1.32 × 10−4 | 1.70 (1.30, 2.22) | 1.19 (0.95, 1.49) | |||
| FD3(GD-HK) | 1227/1411 | 0.450/0.491 | 0.969/0.640 | 0.00274 | 1.39 (1.12, 1.73) | 1.15 (0.96, 1.38) | |||
| Combined | 5642/3222 | 0.436/0.493 | 0.603/0.758 | 1.49 × 10−13 | 1.59 (1.41, 1.80) | 1.23 (1.11, 1.36) | |||
| rs7331047 | 23365342 | C | GWAS (SH) | 0/419 | 0/0.499 | 0/0.696 | NA | NA | NA |
| FD1(WZ) | 2525/843 | 0.425/0.486 | 0.769/0.589 | 1.42 × 10−5 | 1.62 (1.30, 2.03) | 1.34 (1.11, 1.61) | |||
| FD2(CD) | 1890/549 | 0.425/0.505 | 0.655/0.767 | 2.05 × 10−6 | 1.93 (1.47, 2.53) | 1.33 (1.05, 1.67) | |||
| FD3(GD-HK) | 1227/1411 | 0.449/0.491 | 0.857/0.531 | 0.00245 | 1.40 (1.12, 1.74) | 1.16 (0.96, 1.38) | |||
| Combined | 5642/3222 | 0.430/0.493 | 0.957/0.680 | 6.16 × 10−16 | 1.66 (1.47, 1.88) | 1.27 (1.15, 1.41) | |||
a
GWAS cohort: Shanghai cohort. FD1: follow-up dataset 1, Wenzhou cohort. FD2, follow-up dataset 2, Chengdu cohort. FD3, follow-up dataset 3, Guangdong-Hong Kong cohort.
b
RAF, frequency of risk allele.
c
The allelic p value was corrected by age and gender, and genomic control was used for the GWAS cohort.
d
CI: confidence interval.