Table 1. Genome-wide significant hits for refractive error in the European ancestry population with results in Asian population and combined analysis.
Number of loci | SNP | Chromosome | Position | Nearest gene | A1/A2 | MAF | Beta | SEM | P value | MAF | Beta | SEM | P value | Beta | SEM | P value | P value |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| |||||||||||||||||
Stage 1 (n = 37,382) | Stage 2 (n = 8,376) | Combined (n = 45,758) | Heterogeneity | ||||||||||||||
1 | rs1652333 | 1 | 203858855 | CD55 | G/A | 0.32 | −0.115 | 0.018 | 6.29E-11 | 0.42 | −0.099 | 0.035 | 5.00E-03 | −0.112 | 0.016 | 3.05E-12 | 0.94 |
2 | rs1656404 | 2 | 233205446 | PRSS56 | A/G | 0.21 | −0.151 | 0.025 | 2.38E-09 | 0.11 | −0.167 | 0.069 | 1.60E-02 | −0.153 | 0.024 | 7.86E-11 | 0.83 |
rs1881492 | 2 | 233406997 | CHRNG | T/G | 0.22 | −0.145 | 0.022 | 1.28E-10 | 0.15 | −0.057 | 0.110 | 6.09E-01 | −0.139 | 0.021 | 5.15E-11 | 0.88 | |
3 | rs14165 | 3 | 53847407 | CACNA1D | A/G | 0.32 | 0.095 | 0.017 | 4.36E-08 | 0.12 | 0.120 | 0.100 | 2.29E-01 | 0.096 | 0.017 | 2.14E-08 | 0.25 |
4 | rs1960445 | 4 | 81930813 | BMP3 | C/T | 0.17 | −0.147 | 0.026 | 1.19E-08 | 0.11 | 0.034 | 0.055 | 5.32E-01 | −0.114 | 0.024 | 1.25E-06 | 0.31 |
5 | rs12205363 | 6 | 129834628 | LAMA2 | C/T | 0.10 | 0.228 | 0.034 | 1.13E-11 | 0.02 | 0.553 | 0.236 | 1.92E-02 | 0.235 | 0.033 | 1.79E-12 | 0.93 |
6 | rs4237036 | 8 | 61701056 | CHD7 | C/T | 0.35 | 0.097 | 0.017 | 1.52E-08 | 0.23 | 0.043 | 0.040 | 2.81E-01 | 0.089 | 0.016 | 1.82E-08 | 0.76 |
rs7837791 | 8 | 60179085 | TOX | T/G | 0.49 | 0.106 | 0.017 | 9.22E-10 | 0.39 | 0.103 | 0.035 | 4.00E-03 | 0.106 | 0.015 | 3.99E-12 | 0.70 | |
7 | rs7829127 | 8 | 40726393 | ZMAT4 | G/A | 0.25 | 0.116 | 0.020 | 3.04E-09 | 0.11 | 0.112 | 0.055 | 4.23E-02 | 0.116 | 0.018 | 3.69E-10 | 0.66 |
8 | rs7042950 | 9 | 77149836 | RORB | G/A | 0.24 | −0.113 | 0.020 | 1.02E-08 | 0.42 | −0.040 | 0.037 | 2.72E-01 | −0.096 | 0.018 | 4.15E-08 | 0.83 |
9 | rs10882165 | 10 | 94924323 | CYP26A1 | T/A | 0.42 | −0.111 | 0.016 | 1.25E-11 | 0.20 | −0.060 | 0.056 | 2.84E-01 | −0.107 | 0.016 | 1.03E-11 | 0.90 |
10 | rs7084402 | 10 | 60265403 | BICC1 | G/A | 0.48 | −0.111 | 0.016 | 7.23E-12 | 0.50 | −0.094 | 0.035 | 7.34E-03 | −0.108 | 0.015 | 2.06E-13 | 0.71 |
11 | rs11601239 | 11 | 105061808 | GRIA4 | C/G | 0.46 | −0.092 | 0.017 | 3.45E-08 | 0.42 | −0.129 | 0.058 | 2.70E-02 | −0.095 | 0.016 | 5.92E-09 | 0.83 |
12 | rs3138144 | 12 | 56114768 | RDH5 | C/G | 0.48 | 0.113 | 0.018 | 4.28E-10 | 0.45 | 0.157 | 0.072 | 3.00E-02 | 0.119 | 0.017 | 4.44E-12 | 0.09 |
13 | rs2184971 | 13 | 100818091 | PCCA | G/A | 0.44 | 0.095 | 0.016 | 5.90E-09 | 0.22 | 0.022 | 0.040 | 5.84E-01 | 0.085 | 0.015 | 2.11E-08 | 0.96 |
rs8000973 | 13 | 100691366 | ZIC2 | T/C | 0.47 | 0.089 | 0.016 | 4.24E-08 | 0.22 | 0.030 | 0.041 | 4.63E-01 | 0.081 | 0.015 | 5.10E-08 | 0.50 | |
14 | rs524952 | 15 | 35005885 | GJD2 | A/T | 0.48 | −0.154 | 0.021 | 1.11E-13 | 0.44 | −0.193 | 0.060 | 1.00E-03 | −0.158 | 0.020 | 1.44E-15 | 0.22 |
15 | rs4778879 | 15 | 79372874 | RASGRF1 | G/A | 0.44 | −0.103 | 0.017 | 1.27E-09 | 0.39 | −0.103 | 0.043 | 1.50E-02 | −0.102 | 0.015 | 4.25E-11 | 0.15 |
16 | rs17183295 | 17 | 31078271 | MYO1D | T/C | 0.23 | −0.132 | 0.021 | 3.04E-10 | 0.16 | −0.166 | 0.144 | 2.49E-01 | −0.131 | 0.020 | 9.66E-11 | 0.34 |
17 | rs4793501 | 17 | 68718733 | KCNJ2 | C/T | 0.42 | 0.096 | 0.016 | 3.21E-09 | 0.44 | 0.010 | 0.034 | 7.64E-01 | 0.080 | 0.014 | 2.79E-08 | 0.04 |
18 | rs12971120 | 18 | 72174022 | CNDP2 | G/A | 0.23 | 0.108 | 0.020 | 4.39E-08 | 0.30 | 0.014 | 0.063 | 8.27E-01 | 0.099 | 0.019 | 1.85E-07 | 0.49 |