Table 3. Association results for genetic variants in published GWAS loci for spherical equivalent or myopia.
Loci |
Gene |
GWAS variantsb |
GWAS effect size |
Tested variant (r2)c |
MAF |
β (SE) |
P value |
Spherical equivalent |
14q23.1 |
SIX6 [30]
|
rs1254319 |
−0.09 |
rs1254319 (1.00) |
29% [A] |
−0.17 (0.10) |
>0.01 |
15q14 |
GJD2 [31]
|
rs634990 |
−0.23 |
rs634990 (1.00) |
47% [C] |
−0.29 (0.09) |
1.8 × 10−3 |
15q24.2 |
RASGRF1 [32]
|
rs939658 |
−0.15 |
rs939658 (1.00) |
50% [A] |
−0.04 (0.10) |
>0.01 |
18q22.3 |
CNDP2 [30]
|
rs12971120 |
0.11 |
rs2278161 (1.00) |
22% [C] |
0.14 (0.12) |
>0.01 |
Myopia |
2q31.2 |
PDE11A [34]
|
rs17400325 |
1.14d |
rs17400325 (1.00) |
3% [C] |
−0.15 (0.28) |
>0.01 |
2q37.1 |
PRSS56 [34]
|
rs1550094 |
1.09d |
rs1550094 (1.00) |
31% [G] |
−0.33 (0.10) |
1.7 × 10−3 |
4q25 |
4q25 [24]
|
rs10034228 |
0.81e |
rs10034228 (1.00) |
31% [C] |
−0.02 (0.10) |
>0.01 |
13q12 |
MIPEP [26]
|
rs9318086 |
1.64/1.32f |
rs9318086 (1.00) |
44% [A] |
−0.03 (0.10) |
>0.01 |